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  • Articles  (210,183)
  • 1990-1994  (210,183)
  • Medicine  (210,183)
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  • Articles  (210,183)
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  • 1
    Electronic Resource
    Electronic Resource
    Spermine protects protein kinase C from phospholipid-induced inactivation (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 953-957 
    Details
    ISSN: 1420-9071
    Keywords: Protein kinase C ; polyamines ; spermine ; protein kinase C inactivation ; phospholipid vesicles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Phosphatidylserine (PS), an activator of protein kinase C (PKC) in the assay of protein phosphorylation, inhibited this enzyme in a time-dependent manner following preincubation in the absence of Ca2+. The phospholipid-induced inactivation of kinase activity was dependent on the PS content and on the charge density of liposomes. This inactivation of PKC could be reduced, but not completely eliminated, by addition of Ca2+. In the present work the effect of a naturally occurring polyamine (spermine) on the PS-induced inactivation of PKC was investigated. The presence of spermine during preincubation without Ca2+ was effective in suppressing the PS-induced inactivation of PKC over the period (20 min) required for PS to inhibit the enzyme by 95%. PKC exists in two membrane-bound states: a reversible one which can be dissociated by Ca2+ chelators (membrane-associated form) and an irreversible one which is chelator-stable (membrane-inserted form). Gel filtration experiments on the PKC-PS complex formed in the presence of Ca2+ indicated that less insertion of enzyme into liposomes occurred in the presence of spermine and that the kinase activity of the reversibly membrane-associated PKC was protected from PS inactivation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923486
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  • 2
    Electronic Resource
    Electronic Resource
    The role of sex steroid in two avian song behaviours differing in ontogenetic process (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 972-974 
    Details
    ISSN: 1420-9071
    Keywords: Bengalese finch ; birdsong ; directed song ; undirected song ; maturational process ; fecal steroid hormone ; testosterone dependency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The male Bengalese finch,Lonchura striata, has two types of song behaviour (directed song, DS and undirected song, US). DS and US share a basically identical syllable repertoire, sequence pattern and tempo, but differ in the time course of appearance during the maturational process. In order to examine whether this results from a difference in testosterone (T) dependency, we studied developmental changes in the fecal T level and the amounts of DS and US during the 2–4 month period (N=7). DS appeared between 83 and 94 days of age, 4–16 days after a rise in the fecal T level. In contrast, US appeared earlier and at high frequency even when T was still at a very low level. These results suggest that DS is more dependent on the T level than US, and is not activated until the T level rises during the maturational process.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923490
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  • 3
    Electronic Resource
    Electronic Resource
    Hsp70s and lysosomal proteolysis (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1021-1025 
    Details
    ISSN: 1420-9071
    Keywords: Lysosomes ; proteolysis ; heat shock proteins ; protein targeting ; translocation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Confluent cultured cells activate a lysosomal pathway of polypeptide breakdown in response to withdrawal of serum growth factors. The substrates for this proteolytic pathway are a restricted class of cytosolic polypeptides containing peptide sequences biochemically related to lysine-phenylalanine-glutamate-arginine-glutamine, or, in single amino acid abbreviations, KFERQ. The heat shock cognate protein of 73 kD (hsc73) binds to a variety of polypeptides via this molecular determinant and facilitates their lysosomal import and degradation. In addition, a portion of intracellular hsc73 resides within the lysosome and appears to be an essential component of the proteolytic machinery. Several potential mechanisms by which hsc73 mediates selective lysosomal import and degradation of polypeptides are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923456
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  • 4
    Electronic Resource
    Electronic Resource
    Programmed cell death (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. A1 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02033112
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  • 5
    Electronic Resource
    Electronic Resource
    Competitiveness and communication for effective inoculation byRhizobium, Bradyrhizobium and vesicular-arbuscular mycorrhiza fungi (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 884-889 
    Details
    ISSN: 1420-9071
    Keywords: Bradyrhizobium ; communication ; competitiveness ; Rhizobium ; vesicular-arbuscular (VA) mycorrhiza fungi
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract After a short summary on the ecology and rhizosphere biology of symbiotic bacteria and vesicular-arbuscular (VA) mycorrhiza fungi and their application as microbial inocula, results on competitiveness and communication are summarized. Stress factors such as high temperature, low soil pH, aluminium concentrations and phytoalexins produced by the host plants were studied withRhizobium leguminosarum bv.phaseoli andRhizobium tropici onPhaseolus beans. Quantitative data for competitiveness were obtained by usinggus + (glucoronidase) labelled strains, which produce blue-coloured nodules. ForPhaseolus-nodulating rhizobia, a group specific DNA probe was also developed, which did not hybridize with more than 20 other common soil and rhizosphere bacteria. Results from several laboratories contributing to knowledge of signal exchange and communication in theRhizobium/Bradyrhizobium legume system are summarized in a new scheme, including also defense reactions at the early stages of legume nodule initiation. Stimulating effects of flavonoids on germination and growth of VA mycorrhiza fungi were also found. A constitutive antifungal compound in pea roots, β-isoxazolinonyl-alanine, was characterized.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923474
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  • 6
    Electronic Resource
    Electronic Resource
    Biochemical approaches to the study of plant-fungal interactions in arbuscular mycorrhiza (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 919-925 
    Details
    ISSN: 1420-9071
    Keywords: Arbuscular mycorrhiza ; abscisic acid ; carotenoid ; Glomus ; nitrate reductase ; mycorradicin ; sterols ; yellow pigment in mycorrhiza
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract This communication compares some biochemical methods for quantifying colonization by arbuscular mycorrhizal (AM) fungi. The degree of mycorrhizal colonization can conveniently be measured by determining fungal specific sterols. AM-colonized plants show a specific synthesis of 24-methylene cholesterol and an enhanced level of campesterol (=24-methyl cholesterol). A gene probe for nitrate reductase, the key enzyme for nitrogen assimilation, has been developed, which allows the monitoring of the distribution of this enzyme in fungi. Among the phytohormones tested, only abscisic acid (ABA) is found at a considerably higher level in AM-colonized plants than in controls. The concentration of ABA is about twenty times higher in spores and hyphae of the AM fungusGlomus than in maize roots. Other phytohormones (auxins, cytokinins) do not show such alterations after mycorrhizal colonization. The roots of gramineous plants become yellow as a result of mycorrhizal colonization. The yellow pigment(s) formed is (are) deposited in larger quantities in the vacuole(s) of the root parenchyma and endodermis cells during the development of the gramineous plants. A substance isolated from such roots has now been identified as a C-14 carotenoid with two carboxylic groups, and named mycorradicin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923479
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  • 7
    Electronic Resource
    Electronic Resource
    The COMT inhibitor tolcapone potentiates the anticataleptic effect of Madopar in MPP+-lesioned mice (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 939-942 
    Details
    ISSN: 1420-9071
    Keywords: Catalepsy ; Madopar ; tolcapone ; 3-O-methyldopa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Orally administered Madopar (levodopa/benserazide 4∶1) dose-dependently antagonized haloperidol-induced (1 mg/kg s.c.) catalepsy in MPP+-lesioned mice. Pretreatment with a new selective catechol-O-methyltransferase (COMT) inhibitor, tolcapone (30 mg/kg p.o.), slightly potentiated the antagonistic effect of Madopar (15 mg/kg p.o.) on haloperidol-induced catalepsy. The ability of tolcapone to increase the Madopar effect was significantly attenuated by high doses of 3-O-methyldopa (3-OMD) (800 mg/kg i.p.). This might suggest a competitive blockade of the active transport of levodopa through the blood-brain barrier. In conclusion, the inhibitory effect of tolcapone on the O-methylation of levodopa to 3-OMD by COMT is largely due to improved levodopa and dopamine availability in the brain, and to the reduced formation of 3-OMD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923483
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  • 8
    Electronic Resource
    Electronic Resource
    Effect of radical scavengers on TNFα-mediated activation of the uPA in cultured cells (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 958-962 
    Details
    ISSN: 1420-9071
    Keywords: Plasminogen activator ; active oxygen ; gene expression ; radical scavengers ; endothelial cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Active oxygen, produced by cultured cells following stimulation with various growth factors, seems to be involved in signal transduction leading to cellular responses such as gene expression and growth modulation. In the present study, the intracellular oxidation state was measured in immortalized human endothelial cells (ECV304) after treatment with tumor necrosis factor (TNF)α, using a fluorescent dye and a laser-scanning confocal microscope. The intracellular oxidation state was increased 60 min after the addition of TNFα, and this increase was abolished by a radical scavenger, N-acetylcysteine (NAC), which is also a precursor of glutathione, and by pyrrolidine dithiocarbamate (PDTC). TNFα increased the steady state level of urokinase-type plasminogen activator (uPA), and NAC inhibited this increase at a dose that also inhibited the increase in the intracellular oxidation state. PDTC, on the other hand, did not affect the induction of the uPA gene by TNFα. These results suggest that intracellular glutathione level rather than the oxidation state is necessary for the induction of the uPA gene by TNFα.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923487
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  • 9
    Electronic Resource
    Electronic Resource
    Structure and function of RecA-DNA complexes (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 192-203 
    Details
    ISSN: 1420-9071
    Keywords: RecA ; RecA-DNA complexes ; homologous recombination ; Rad51 protein ; electron microscopy ; image analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract While theE. coli RecA protein has been the most intensively studied enzyme of homologous recombination, the unusual RecA-DNA filament has stood alone until very recently. It now appears that this protein is part of a universal family that spans all of biology, and the filament that is formed by the protein on DNA is a universal structure. With RecA's role in recombination given new and greatly increased significance, we focus in this review on the energetics of the RecA-mediated strand exchange and the relation between the energetics and recombination spanning heterologous inserts.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01924002
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  • 10
    Electronic Resource
    Electronic Resource
    Protective effects of hsp70 in inflammation (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1031-1038 
    Details
    ISSN: 1420-9071
    Keywords: Heat shock proteins ; inflammation ; reactive oxygen species ; nitric oxide ; lipid peroxidation ; tumor necrosis factor α ; interleukin 1 ; adult respiratory distress syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Inflammation results from the recruitement to a given tissue or organ and the activation of leucocytes, among which the monocytes-macrophages play a major role. These phagocytic cells produce high levels of reactive oxygen species (ROS) as well as cytokines. Whereas both ROS and cytokines have the potential to regulate the expression of heat shock (HS)/stress proteins (HSP), it appears that these proteins in turn have the ability to protect cells and tissues from the deleterious effects of inflammation. The mechanisms by which such protection occurs include prevention of ROS-induced DNA strand breaks and lipid peroxidation as well as protection from mitochondrial structure and function. In vivo, HS protects organs against a number of lesions associated with the increased production of ROS and/or cytokines. In an animal model for adult respiratory distress syndrome, an acute pulmonary inflammatory condition, HS completely prevented mortality. HSP (hsp70 in particular) may also exert protective effects in the immune system by contributing to the processing and presentation of bacterial and tumoral antigens. The analysis of the expression of hsp70 may prove of diagnostic and prognostic value in inflammatory conditions and therapeutical applications are being considered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923458
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  • 11
    Electronic Resource
    Electronic Resource
    Hsp70: a carrier molecule with built-in adjuvanticity (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1061-1066 
    Details
    ISSN: 1420-9071
    Keywords: Heat shock proteins ; mycobacteria ; vaccines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract One problem associated with the development of subunit vaccines is their limited immunogenicity, due to their physico-chemical structure, their inability to encounter the correct MHC restriction element, or the need for strong adjuvants to be delivered along with them. These problems are usually solved by conjugating target epitopes (peptides or oligosaccharides) with carrier proteins which provide a source of T-cell epitopes recognised by a large proportion of the vaccinated individuals. We have shown that mycobacterial hsp65 and hsp70 exert a strong helper effect in vivo when conjugated to synthetic peptides or oligosaccharides. Interestingly, this helper effect did not require the need for any adjuvant, either in mice or in monkeys. The helper effect mediated by the hsp65 required that animals were previously primed with either live BCG or the hsp65 alone; on the other hand, such a priming was not required when the hsp70 was used in the conjugates. Similar results were obtained with HSP molecules fromEscherichia coli. This may suggest that the adjuvant-free helper effect observed applies not only to mycobacterial HSP, but also to HSP from other prokaryotes. These findings suggest that microbial hsp70 could be considered for the design of conjugated vaccine constructs for eventual human use.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923462
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  • 12
    Electronic Resource
    Electronic Resource
    Hsp70 and aging (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1092-1098 
    Details
    ISSN: 1420-9071
    Keywords: Aging ; liver ; transcription ; heat shock transcription factor ; rat ; senescence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An alteration in the ability of cells to express heat shock proteins could be physiologically important in aging because all living organisms show a reduced ability to respond to stress with increasing age. Using hepatocytes freshly isolated from young adult and old rats, we have shown that the induction of hsp70 expression by heat shock is reduced approximately 50% with age. The decrease in hsp70 expression occurs at the level of transcription and appears to arise from a defect in the heat shock transcription factor. Other investigators have also shown that the induction of hsp70 expression by heat shock as well as other stresses declines significantly with age in a variety of tissues from rats as well as mononuclear cells from human subjects. In addition, a decrease in the inducibility of hsp70 is observed with cell senescence in cultured cells. Therefore, it appears that a reduced ability to express hsp70 in response to stress may be a common phenomenon underlying the aging process.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923466
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  • 13
    Electronic Resource
    Electronic Resource
    Announcements (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1117-1118 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923471
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  • 14
    Electronic Resource
    Electronic Resource
    Spermatogenesis is extraordinarily accelerated in metamorphosis-arrested larvae of a salamander,Hynobius retardatus (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 94-98 
    Details
    ISSN: 1420-9071
    Keywords: Neoteny ; metamorphosis ; goitrogens ; Hynobius ; spermatogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Laboratory experiments were conducted to induce neoteny inHynobius retardatus, which had been reported to propagate in larval forms like axolotl. A large number of newly hatched larvae were reared in an aqueous solution of thiourea (TU) and sodium perchlorate (SPC) in order to arrest the metamorphosis. Gonadal development in the metamophosis-arrested larvae was compared with that in normally metamorphosing and metamorphosed controls. Metamorphosis-arrested male larvae produced morphologically mature spermatozoa approximately 4 months after hatching, when the gonads in the controls began to differentiate into testes, or to show the premeiotic proliferation of germ cells. Possible endocrine controls of these phenomena are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01984941
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  • 15
    Electronic Resource
    Electronic Resource
    Effect of dipyridamole on glomerular mesangial cell ecto-5′-nucleotidase expression (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 943-946 
    Details
    ISSN: 1420-9071
    Keywords: Mesangial cells ; ecto-5′-nucleotidase ; dipyridamole ; adenosine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Although dipyridamole has been extensively studied as an anti-aggregating agent, its mechanism of action has not been elucidated. Cultured mesangial cells were treated with dipyridamole 1–100 μM from 6–72 h. Ecto-5′-nucleotidase activity approximately doubled (from 115±11 to 226±14 nmol/min/mg) after treatment with 100 μM dipyridamole for 72 h. This effect was concentration- and time-dependent. Cycloheximide, an inhibitor of protein synthesis, did not alter basal 5′-nucleotidase activity. However, it prevented stimulation by 5 μM dipyridamole. Adenosine availability at the receptor sites was increased by dipyridamole and S-(p-nitrobenzyl)-6-thioinosine (NBTI), which inhibit adenosine uptake into the cell. Addition of dipyridamole or NBTI to the adenosine-treated mesagial cells produced an additive increase in ecto-5′-nucleotidase activity. Dipyridamole, through its effect on extracellular adenosine and ecto-5′-nucleotidase, may have an influence upon regulation of the glomerular microcirculation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923484
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  • 16
    Electronic Resource
    Electronic Resource
    Gap junctional intercellular communication of cultured rat liver parenchymal cells is stabilized by epithelial cells and their isolated plasma membranes (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 124-126 
    Details
    ISSN: 1420-9071
    Keywords: Rat hepatocyte ; gap junctional intercellular communication ; coculture ; plasma membrane ; stabilization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The gap junctional intercellular communication (GJIC) determined by measuring dye coupling with Lucifer yellow, decreased within 3 d from 66% to 28% in monocultures of rat liver parenchymal cells. Coculturing of the parenchymal cells with a nonparenchymal epithelial cell line from rat liver resulted in increased and stabilized intercellular communication (83% after 3 d). The presence of isolated plasma membrane vesicles of the nonparenchymal epithelial cells also stabilized the intercellular communication between the liver parenchymal cells (70% after 3 d). When liver parenchymal cells were cocultured with a rat liver fibroblast cell line the gap junctional communication between the parenchymal cells was not stabilized (43% after 3 d), and isolated plasma membrane vesicles of the fibroblast were also unable to support the GJIC in parenchymal cells (35% after 3 d). It is concluded that plasma membrane constituents of the nonparenchymal epithelial cells were responsible for the stabilization of the GJIC between parenchymal cells. A heterotypic gap junctional communication between parenchymal and nonparenchymal cells was not observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01984948
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  • 17
    Electronic Resource
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    Physical characteristics of the cerebral big prothoracicotropic hormone fromManduca sexta (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 159-163 
    Details
    ISSN: 1420-9071
    Keywords: Prothoracicotropic hormone ; Manduca sexta ; anti-PTTH monoclonal antibody ; sedimentation coefficient ; frictional ratio ; molecular weight
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The prothoracicotropic hormones (PTTHs) are cerebral peptides that control insect postembryonic development by stimulating the prothoracic glands to synthesize ecdysteroids. InManduca sexta, the tobacco hornworm, two classes of PTTH are distinguished by their Mr, small (ca. 7 kDa) and big PTTH (ca. 25–30 kDa). Little is known about the physical nature of the PTTHs and this study takes a first step towards defining characteristics of theManduca big PTTH. The neurohormone has a Stokes radius of 2.59 nm and a sedimentation coefficient of 2.76 S. Based on these data, an Mr of 29,443.7 and anf/f 0 of 1.27 were calculated. Combined, the physical data revealManduca big PTTH is an asymmetrical acidic homodimeric peptide with intra- and intermolecular disulfide bonds.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01984956
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  • 18
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    Heat shock proteins in immune response to cancer: The Fourth Paradigm (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1054-1060 
    Details
    ISSN: 1420-9071
    Keywords: Vaccination ; T lymphocytes ; infection ; peptides ; antibodies ; γδ T cells ; antigen presentation ; cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The involvement of heat shock proteins in immune response is categorized into four distinct paradigms. In the First Paradigm, HSP derived from foreign organisms act as classical foreign antigens, and they elicit immune response to the non-conserved HSP epitopes. The Second Paradigm refers to instances where the host responds to self HSP to which there is no central or peripheral tolerance. The Third Paradigm involves molecular mimicry, where cross-reactivity between an HSP and another protein leads to an immune response to the latter under conditions which elicit an immune response to the former, such as infection with a bacterium whose immunodominant antigen is an HSP. The Fourth Paradigm refers to situations where an HSP-antigen complex elicits an effective response to the antigen andnot to the HSP. Thus the HSP acts as a carrier for the antigenic peptide. The role of HSP in recognition by γδ T cells may also fall into this paradigm. In this article, the Fourth Paradigm is considered as a crucial element in the development of vaccines against cancers and infectious diseases, and is analyzed through the prism of the observed association of hsp70 species with antigenic peptides.
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    URL: http://dx.doi.org/10.1007/BF01923461
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  • 19
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    Heat shock response in the central nervous system (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1085-1091 
    Details
    ISSN: 1420-9071
    Keywords: Excitotoxicity ; stroke ; stress response ; neuro protection ; ischemia ; brain ; neuron
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The heat shock response is induced in nervous tissue in a variety of clinically significant experimental models including ischemic brain injury (stroke), trauma, thermal stress and status epilepticus. Excessive excitatory neurotransmission or the inability to metabolically support normal levels of excitatory neurotransmission may contribute to neuronal death in the nervous system in many of the same pathophysiologic circumstances. We demonstrated that in vitro glutamate-neurotransmitter induced excitotoxicity is attenuated by the prior induction of the heat shock response. A short thermal stress induced a pattern of protein synthesis characteristic of the highly conserved heat shock response and increased the expression of heat shock protein (HSP) mRNA. Protein synthesis was necessary for the neuroprotective effect. The study of the mechanisms of heat shock mediated protection may lead to important clues as to the basic mechanisms underlying the molecular actions of the HSP and the factors important for excitotoxic neuronal injury. The clinical relevance of these findings in vitro is suggested by experiments performed by others in vivo demonstrating that pretreatment of animals with a submaximal thermal or ischemis stress confers protection from a subsequent ischemic insult.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923465
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  • 20
    Electronic Resource
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    Comparative study of the karyotypes of two Egyptian species of bats,Taphozous perforatus andTaphozous nudiventris (Chiroptera: Mammalia) (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1111-1114 
    Details
    ISSN: 1420-9071
    Keywords: Chromosome ; karyotype ; G-banding ; Taphozous perforatus ; Taphozous nudiventris
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A detailed karyotypic analysis of two Egyptian species of bats,Taphozous perforatus andTaphozous nudiventris, was made on the basis of conventional data and G-band patterns. No detectable karyotypic difference was found between the two species (2n=42, F.N. 64). By comparison of G-band patterns, some differences between the two species were seen in the corresponding autosomal pairs. These results are reported for the first time in Egypt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01923469
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  • 21
    Electronic Resource
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    Divergent effects of hyperosmolality on stress-response (heat shock) protein expression in cultured human tumor cells: an immunocytochemical study (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 479-482 
    Details
    ISSN: 1420-9071
    Keywords: Stress-response proteins ; heat shock proteins ; hyperosmolality ; human tumor cells ; MCF-7 ; HeLa S3 ; immunocytochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Exposing cells to adverse conditions usually elicits expression of stress-response (heat shock) proteins (srp). Here we show that hyperosmolar growth conditions do not uniformly affect srp expression in MCF-7 and HeLa S3 cells, derived from carcinoma of the breast and cervix, respectively. Thus, whereas srp 27 expression was increased in MCF-7, but not in HeLa S3, the opposite was the case with srp 72. On the other hand, hyperosmolality did not induce αB-crystallin or ubiquitin in either cell line. These findings show that srp expression by the human tumor cells studied is non-coordinate, suggesting that each srp is independently modulated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01920751
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  • 22
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    Comparison of protein synthesis profiles in chronic lymphocytic leukaemia cells and B-lymphocytes from peripheral blood, cord blood and tonsil (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 493-496 
    Details
    ISSN: 1420-9071
    Keywords: CLL ; 2D-gel ; protein ; CD5+ve ; B-lymphocyte
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract 2D-gel electrophoresis was used to investigate protein synthesis in leukaemic cells from a series of 15 chronic lymphocytic leukaemia (CLL) patients, and in non-malignant B-cell populations from different sources. The protein synthesis profiles of CD5+ B-cells from umbilical cord blood and from tonsil were determined, and the levels of expression of their proteins were observed to be similar to the CLL cells. The CD5-cells from cord blood resembled peripheral blood B-lymphocytes, and the protein synthesis profile of CD5-cells from tonsils was very complex. One protein was also identified which consistently appeared to be synthesised at a low level in CD5+ B-cells from tonsil but which was always more prominant in CLL cells and other non-malignant B-lymphocytes. On the basis of these data it is possible that the closest non-malignant counterpart to CLL is the CD5+ B-lymphocyte from cord blood.
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    Gastric lysozyme as a digestive enzyme in the hoatzin (Opisthocomus hoazin), a ruminant-like folivorous bird (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 499-501 
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    ISSN: 1420-9071
    Keywords: Lysozyme ; birds ; herbivory ; foregut fermentation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The hoatzin is the only bird known to have pregastric fermentation in the crop. This digestive strategy is supported by morphological and microbiological adaptations analogous to those present in ruminants and ruminant-like mammals. The hoatzin expresses a lysozyme-like bacteriolytic activity in its foregut. The enzyme has a high activity, and its low pH optimum, pepsin resistance and localization to the proventriculus allow it to be active for digestion in the stomach. The hoatzin enzyme and the ruminant gastric lysozyme present similar biochemical characteristics. The lysis of bacterial cells may be of significance for the nutrition of the hoatzin. We propose that the hoatzin expresses a lysozyme which has been recruited to function as a digestive enzyme, representing a unique case of evolutionary convergence of digestive adaptations in this bird and foregut fermenter mammals.
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    Ancient DNA: An introduction (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 521-523 
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    ISSN: 1420-9071
    Keywords: Ancient DNA ; evolution ; conservation ; biology ; anthropology ; plant biology ; PCR (polymerase chain reaction)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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    URL: http://dx.doi.org/10.1007/BF01921719
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    Implications of ancient DNA for phylogenetic studies (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 543-550 
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    ISSN: 1420-9071
    Keywords: Ancient DNA ; insect systematics ; fossils ; cladistics ; DNA sequences
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The utility of DNA sequence characters from fossil specimens is examined from a phylogenetic perspective. Four ways that fossil characters can alter phylogenetic hypotheses are discussed. Two empirical examples and a third hypothetical example concerning amber-preserved insects are presented to illustrate these phenomena. Fossil DNA sequences as characters will be affected by the problem of missing data and missing taxa. In general, cladogram accuracy will be more greatly affected by missing taxa and cladogram resolution will be affected more acutely by missing data. Due to these points, an examination of the importance of the phylogenetic question being addressed, the utility of the fossil DNA sequences and the rarity of the fossil should be considered before damage of a fossil is undertaken.
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    Paracelsus — physician, reformer, philosopher, scientist (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 334-338 
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    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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    URL: http://dx.doi.org/10.1007/BF02026633
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    Selected papers from early volumes of EXPERIENTIA (1994)
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    Cellular and molecular life sciences 50 (1994), S. 352-353 
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    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
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    URL: http://dx.doi.org/10.1007/BF02026637
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    The islet-acinar axis of the pancreas: Is there a role for glucagon or a glucagon-like peptide? (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 442-446 
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    ISSN: 1420-9071
    Keywords: Glucagon ; endocrine pancreas ; exocrine pancreas ; islet-acinar axis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Intravenous glucagon inhibits exocrine pancreatic secretion in vivo, but exogenous glucagon does not affect exocrine secretion in vitro. Recent work, however, suggested that endogenous glucagon may be involved in the regulation of exocrine secretion even in vitro. We therefore investigated the effects of exogenous and endogenous glucagon on exocrine secretion by the isolated perfused rat pancreas in the presence of 1.8 mM glucose. Exogenous glucagon did not affect CCK-stimulated amylase output. 20 mM arginine stimulated glucagon release, but did not affect basal enzyme secretion. CCK-stimulated amylase output, however, was significantly inhibited in the presence of arginine. This inhibitory effect of arginine on exocrine pancreatic secretion could be blocked by glucagon antibodies, but not by nonspecific gammaglobulins. Thus exogenous glucagon failed to affect exocrine pancreatic secretion in vitro, but endogenously released glucagon or a glucagon-like peptide inhibited amylase release in the isolated perfused pancreas. We conclude that glucagon or a glucagon-like peptide may be a mediator in the islet-acinar axis.
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    Abnormalities of meioses in male reciprocal hybrids between the Hiroshima and Ichinoseki populations ofRana japonica (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 860-866 
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    ISSN: 1420-9071
    Keywords: Cytogenetics ; meiosis ; spermatocytes ; intraspecific hybrids ; amphibia ; anura ; Rana japonica
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In order to elucidate cytogenetically the cause of male sterility in intraspecific hybrids ofRana japonica, the behavior of chromosomes in the first meiosis was observed in spermatocytes from male reciprocal hybrids between two populations from Hiroshima and Ichinoseki. In the parental Hiroshima and Ichioseki populations, 2530 (96.7%) meiotic spreads had 13 bivalents and 78 (3.0%) contained 12 bivalents and two univalents, whereas in reciprocal hybrids only 337 (7.0%) contained 13 bivalents and the other 4445 (93.0%) had 2–26 univalents. A total of 31647 (93.4%) bivalents was ring-shaped and the other 2234 (6.6%) were rod-shaped in both parental populations, whereas in reciprocal hybrids 26352 (57.1%) and 19819 (42.9%) bivalents were ring- and rod-shaped, respectively. These results show that meiotic chromosomes of reciprocal hybrids are characterized by a remarkable increase in univalents and rod-shaped bivalents.
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    Methodological developments in nucleic acid diagnosis (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 789-789 
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    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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    Identification of new oral spirochetes in a subgingival plaque sample by 16S rRNA sequence analysis (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 790-790 
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    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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    URL: http://dx.doi.org/10.1007/BF01956435
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    Parental care in terrestrial gastropods (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 5-14 
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    ISSN: 1420-9071
    Keywords: parental investment ; juvenile survival ; evolution ; gastropods ; molluscs ; ovoviviparity ; viviparity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Parental care in terrestrial gastropods includes the of oviposition sites, production of large, heavily-yolked eggs supplied with calcium carbonate, provisioning of hatchings with eggs in specis with facultative sibling cannibalism, egg retention, and ovoviviparity. Evidence for true viviparity is scarce in terrestrial gastropods, as it is for postlaying care of eggs, though external egg carrying on the shell occurs in a few species. Care of young has not been observed in any terrestrial gastropod species. Provisioning of eggs with nutrients and calcium carbonate might be the most common form of parental investment. Ovoviviparity allows terrestrial gastropods to persist in habitats otherwise unsuitable for oviparous species (e.g. exposed rock walls). An interspecific comparison demonstrates that egg-retaining and ovoviviparous species produce smaller clutches than oviparous species and suggests a cost of parental care.
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    Hsp70 in parasites: as an inducible protective protein and as an antigen (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1067-1074 
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    ISSN: 1420-9071
    Keywords: Parasite ; Candida ; histoplasma ; salmonella ; Leishmania ; macrophage ; antigen ; hsc70 ; hsp70 ; HIS-62 ; HIS-80
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The heat shock (HS) response is a general homeostatic mechanism that protects cells and the entire organism from the deleterious effects of environmental stresses. It has been demonstrated that heat shock proteins (HSP) play major roles in many cellular processes, and have a unique role in several areas of cell biology, from chronic degenerative diseases to immunology, from cancer research to interaction between host and parasites. This review deals with thehsp70 gene family and with its protein product, hsp70, as an antigen when pathogens infect humans. Members of HSP have been shown to be major antigens of many pathogenic organisms when they experience a major temperature shift upwards at the onset of infection and become targets for host B and T cells.
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    Heritable trinucleotide repeats and neurological disorders (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1099-1105 
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    ISSN: 1420-9071
    Keywords: Anticipation ; triplet expansion ; unstable DNA ; hereditary ; dynamic mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In the past 3 years, seven human neurological disorders have been found to be associated with an abnormal number of unstable trinucleotide repeats within exons or non-expressed regions of a gene. These forms of mutations are called dynamic mutations. The expansion in copy number of trinucleotide repeats may represent a large number of hereditary disorders. The correlation between the length of the repeated size and the disease severity and variable onset has provided some genetic explanation for a phenomenon called anticipation. However, there are numerous questions which cannot be explained by anticipation. Many other factors such as genomic imprinting and variable DNA methylation may also contribute to the puzzling features of these phenotypes.
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    A new flavone glycoside from the fernPteris cretica (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 1115-1116 
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    ISSN: 1420-9071
    Keywords: Pteris cretica ; ferns ; luteolin 7-O-robinobioside ; flavone glycosides
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A new flavone glycoside isolated from the fernPteris cretica has been shown to be luteolin 7-O-robinobioside (1) by chemical and spectral methods. In addition luteolin 7-O-rutinoside (2) and luteolin 7-O-glucoside (3) have been isolated from this plant. Flavonoid2 is reported for the first time in ferns.
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    Bovine microvascular endothelial cells of separate morphology differ in growth and response to the action of interferon-γ (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 99-104 
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    ISSN: 1420-9071
    Keywords: Microvascular endothelial cells ; cell culture ; interteron-γ ; cell growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Five cell types recently isolated from the bovine corpus luteum differed in their epithelioid morphology and their cytoskeleton, but shared common criteria of microvascular endothelial cells1,2. To give strong evidence for the separate entity, the growth rate of the 5 phenotypically different cells was studied. They were seeded at low density on day 0. Most of these cells were treated with 200 to 1000 U recombinant bovine interferon-γ (IFN-γ) for 3 days. The untreated remainder served as controls. Cell counts were made for all cultures on days 4, 7, 10 and 13. morphology: 13 d after treatment with IFN-γ senescent cells as well as intact cells occurred in cultures of cell types 1 to 4. Cultures of cell type 5 were apparently unchanged and resembled their untreated counterparts. Desminpositive cells in cultures of cell type 2 developed cell processes. Growth rate: In the absence of IFN-γ, the growth rate was high for cell types 3 and 4, moderate for cell type 1, and low for cell types 2 and 5. The presence of IFN-γ caused anti-proliferative effects. These were higher for cell types 3 and 4 than for cell types 1 and 2. IFN-γ could be cytotoxic on cell type 3. In contrast, the cytokine tended to support the cell growth of cell type 5. These findings substantiate the postulate that endothelial cells exhibiting separate morphology in culture also function differently.
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    Pressure acclimation of the eel and liver membrane composition (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 121-123 
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    ISSN: 1420-9071
    Keywords: Eel ; hydrostatic pressure ; liver ; mitochondria ; phospholipids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Homeoviscous adaptation of membrane fluidity is known to exist in fish living at great depths. Is this adaptation also present in fish living near the surface but experimentally acclimated to high pressure? The composition of mitochondria-rich fractions extracted from the livers of eels acclimated for 15 days at 101 ATA was determined. The results show that pressure induced a significant increase (+100%) of total phospholipids (PL) and cholesterol without a change in their ratio. The increase of PL content was accompanied by a decrease in phosphatidylcholine in favour of phosphatidyl ethanolamine which, due to its preference for the H11 form, is able to compensate for the loss in fluidity induced by pressure.
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    Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 16-20 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
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    Notes: Abstract About two-thirds of patients with Leber hereditary optic neuroretinopathy (LHON) harbor mutations in mitochondrial DNA at positions 11778 (ND4) or 3460 (ND1). Thus, the clinical diagnosis of LHON can often be confirmed with mutation analysis. Detection of pathogenic mutations and quantification of heteroplasmy has mainly relied on PCR and restriction site analysis and densitometric scanning. We applied the recently developed solid-phase minisequencing method, based on primerguided nucleotide incorporation, to the simultaneous detection and quantitation of the ND4/11778 and ND1/3460 mutations. The method was highly sensitive, heteroplasmy as low as 1.5% being easily detected. Rapid, reproducible, and accurate results prove solid-phase minisequencing to be the method of choice for quantitative analysis of LHON mutations.
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    Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 32-34 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
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    Notes: Abstract Human sperm chromosomes from a 46,XY/ 47,XXY male were obtained using the technique of in vitro penetration of zona-free hamster eggs. The analysis of 543 sperm complements shows a significantly increased incidence (0.9%) of hyperhaploid gonosomal 24,XY sets, with a lack of the expected corresponding gonosomal hypohaploidies, and a normal rate of autosomal non-disjunctions. These results support the suggestion that 47,XXY cells are able to go through meiosis and to form spermatozoa. Only 24,XY sperm chromosomal constitutions were observed suggesting a preferential pairing of homologous sex chromosomes in 47,XXY spermatocytes.
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    Expression of (cac)n/(gtg)n simple repetitive sequences in mRNA of human lymphocytes (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 35-41 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Di- and trinucleotide tandem repeat sequences are ubiquitously interspersed and are often polymorphic in the human genome. We have analyzed the transcription of simple (cac) n /(gtg) n repeats in the cDNA of RNA from human lymphocytes. When using such motifs as probes in RNA hybridization experiments, distinct signals are scarcely demonstrable. In order to investigate mRNA sequences that contain such simple repeats, 1 million phage clones from cDNA libraries were screened with the probe (CAC)5. From 50 hybridizing phages, 38 clones were successfully isolated and characterized. The lengths of the transcripts ranged from 120 bp to 3.5 kb. More than 15 different additional simple repeat motifs were found immediately next to or distant to the (cac) n /(gtg) n repeat. In 12 clones, significant homologies were identified with a wide variety of unrelated genes, such as a processed pseudogene of human ubiquitin, serin protease inhibitor genes, a gene candidate from yeast, and sequence-tagged sites of man and mouse. Of the clones, 18% represented mRNA of MHC class I promotor binding protein; 79% displayed novel single copy sequences or partial similarity to many different organelle and nuclear genomes of animal, fungal, bacterial, and viral sequences. These data indicate that short (cac) n /(gtg) n stretches (n ≲ (6) are sometimes contained in open reading frames, but more often in the 3′ and 5′ untranslated portions of mature mRNAs. Longer stretches of perfect simple (cac) n /(gtg) n repeats can rarely be recovered, even from the hnRNA of human lymphocytes.
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    Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 47-52 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by mutations of the gene coding for porphobilinogen deaminase (PBGD). Until now, sixteen different mutations have been described. In an effort to investigate further the molecular epidemiology of AIP, we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients. Here, we have examined seven of the fifteen exons of the gene from 43 unrelated Dutch and French AIP patients using denaturing gradient gel electrophoresis after polymerase chain reaction amplification. Eleven new mutations were found, accounting for the enzymatic defect in about half of the patients. This study further documents the molecular heterogeneity of the mutations responsible for AIP and describes an efficient strategy to detect the mutations in patients with previously unknown abnormalities.
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    Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 53-58 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome characterised by the development of retinal and central nervous system haemangioblastomas, renal cell carcinoma (RCC), phaeochromocytoma and pancreatic tumours. The VHL disease gene maps to chromosome 3p25-p26. To investigate the mechanism of tumourigenesis in VHL disease, we analysed 24 paired blood/tumour DNA samples from 20 VHL patients for allele loss on chromosome 3p and in the region of tumour suppressor genes on chromosomes 5, 11, 13, 17 and 22. Nine out of 24 tumours showed loss of heterozygosity (LOH) at at least one locus on chromosome 3p and in each case the LOH included the region to which the VHL gene has been mapped. Chromosome 3p allele loss was found in four tumour types (RCC, haemangioblastoma, phaeochromocytoma and pancreatic tumour) suggesting a common mechanism of tumourigenesis in all types of tumour in VHL disease. The smallest region of overlap was between D3S1038 and D3S18, a region that corresponds to the target region for the VHL gene from genetic linkage studies. The parental origin of the chromosome 3p25-p26 allele loss could be determined in seven tumours from seven familial cases; in each tumour, the allele lost had been inherited from the unaffected parent. Our results suggest that the VHL disease gene functions as a recessive tumour suppressor gene and that inactivation of both alleles of the VHL gene is the critical event in the pathogenesis of VHL neoplasms. Four VHL tumours showed LOH on other chromosomes (5q21, 13q, 17q) indicating that homozygous VHL gene mutations may be required but may not be sufficient for tumourigenesis in VHL disease.
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    Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 67-73 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The alternatively spliced exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for the initial part of the amino-terminal nucleotide-binding fold of CFTR. A unique feature of the acceptor splice site preceding this exon is a variable length polymorphism within the polypyrimidine tract influencing the extent of exon 9 skipping in CFTR mRNA. We investigated this repeat for its relationship to CFTR mutations and intragenic markers on 200 chromosomes from German patients with cystic fibrosis (CF). Four frequent length variations were strongly associated with the four predominant haplotypes previously defined by intragenic marker dimorphisms. One of these alleles displayed absolute linkage disequilibrium to the major CF mutation ΔF508. Other frequent CFTR mutations were linked to one particular splice site haplotype indicating that differential exon 9 skipping contributes little to the clinical heterogeneity among CF patients with an identical mutation. We also identified a novel missense mutation (V456F) and a novel nonsense mutation (Q414X) within the coding region of exon 9. The missense mutation V456F adjacent to Walker motif A was present in a pancreas-sufficient CF patient. In contrast, the pancreas-insufficient Q414X/ΔF508 compound heterozygote suffered from a severe form of the disease, indicating that alternative splicing of exon 9 does not overcome the deleterious effect of a stop codon within this exon.
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    Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 74-76 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Screening for lactate dehydrogenase (LDH) subunit deficiencies was performed on 2880 blood samples from healthy individuals in the Fukuoka Prefecture in Japan by means of electrophoresis. The frequencies of heterozygotes with either LDH-A or LDH-B deficiency were found to be 0.104% at each locus. These estimated frequencies of either LDH-A or LDH-B deficiencies were slightly lower than, but not significantly different from, those found previously in Shizuoka Prefecture. The genetic mutations in individuals heterozygous for LDH-B deficiency were analyzed by the polymerase chain reaction and DNA conformation polymorphism. Abnormal migration patterns were observed in individuals heterozygous for LDH-B deficiency. Subsequent sequence determination of the mutant alleles revealed three novel mutations: an eight-base duplication in exon 3, a four-base duplication in exon 4, and a one-base deletion in exon 7 of the LDH-B gene. These three mutations result in frameshift translation and premature termination. In addition, the mutations resulting in the duplication of eight or four nucleotides appear to cause a decrease in the levels of LDH-B mRNA.
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    The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 77-78 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have observed a T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a β-thalassemia, but continued analyses have provided convincing evidence that this mutation is a simple polymorphism.
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    Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 81-83 
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    Notes: Abstract We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.
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    Highly polymorphic repeat marker within the β-amyloid precursor protein gene (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 85-86 
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    Notes: Abstract We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the β-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivsl, we detected 13 alleles in the CEPH family members (heterozygosity = 0.69). Lod score analysis showed complete linkage of the marker to the loci D21S210 and D21221.
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    Editorial help (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 93-93 
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    Announcements (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 94-94 
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    Assignment of human satellite 1 DNA as revealed by fluorescent in situ hybridization with oligonucleotides (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 125-128 
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    Notes: Abstract We have used a fluorescent in situ hybridization procedure to detect human satellite 1 DNA, the simple sequence family that constitutes the non-male-specific fraction of classical satellite 1 DNA. Satellite 1 appears to be located on pericentromeric regions of chromosomes 3, 4 and 13, and on satellites of each acrocentric chromosome. These results suggest a possible relationship between quinacrine fluorescence of heterochromatin and DNA composition. Furthermore, by means of multicolour in situ hybridization, we have spatially resolved satellite 1 sequences and centromeric α-satellite within heterochromatic blocks.
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    Maternal cell contamination in amniotic fluid samples as a consequence of the sampling technique (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 121-124 
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    Notes: Abstract Maternal cell contamination in amniotic fluid samples is easily detected by in situ hybridization if the karyotype of the fetus differs from the karyotype of the mother. One out of two amniotic fluid samples appears to contain more than 20% maternal cells. Bloody samples often contain even more than 50% maternal cells. Maternal cells can also be identified on the basis of their nuclear morphology. Maternal cell contamination is regularly observed in pregnancies with an anterior placenta, whereas it is rare in posterior placenta pregnancies. The maternal cells are therefore thought to be artificially introduced into the amniotic fluid sample, as a result of placental bleeding during amniocentesis. The implications of maternal cell contamination for prenatal diagnosis using uncultured amniotic fluid samples are discussed.
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    Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1 (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 135-138 
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    Notes: Abstract Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion of chromosome (1)(p31q12). Q-banded pronuclear chromosomes were analyzed after in vitro penetration of golden hamster oocytes. A total of 159 sperm were examined: 54% bearing the inverted chromosome 1 and 46% the normal chromosome 1. These frequencies are not significantly different from the theoretical 1∶1 ratio. There were no recombinant sperm with duplications or deficiencies, suggesting that a pairing loop failed to form or that crossing-over was suppressed. The frequency of abnormalities unrelated to the inversion was 5% for numerical, 8.8% for structural, 2.5% for numerical and structural, values not significantly different from control donors studied in our lab. The frequencies of X- and Y-bearing sperm were 46% and 54%, respectively, not significantly different from the expected value of 50%. This is the fifth pericentric inversion studied by human sperm chromosome analysis; recombinant chromosomes have been observed in two of the five cases. Some of the factors associated with an increased risk of recombinant sperm appear to be inversion size greater than 30% of the chromosome and chromosome breakpoints in G-light bands.
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    Diagnosis of fragile X syndrome by direct mutation analysis (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 143-147 
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    Notes: Abstract A total of 27 fragile X pedigrees consisting of over 100 nuclear families were analyzed by Southern blotting methods and probes StB12.3 and StB12.3xx to detect the expansion of the (CGG) n repeat within the FMR-1 gene and the abnormal methylation pattern of the adjacent DNA region responsible for the fragile X syndrome. Clinical expression was found to be associated with the presence of a full mutation (Δ 〉 500 bp, associated with abnormal methylation) in all the males and 50% of the females studied, whereas individuals carrying a premutation (Δ = 100–700 bp) were normal. A preferential size increase in the enlarged (CGG) n repeat was detected in successive generations, the instability being stronger when transmitted from a female than from a male. No expansion of the premutation to the full mutation occurred in the paternal transmissions, and the size increase was significantly smaller than in the maternal transmissions. This could partly explain the stability of the premutation through several generations in families with transmitting males. In the maternal transmissions, the risk of expansion of a premutation to a full mutation appeared to depend on its size. The critical maternal premutation size leading invariably to the full mutation was between Δ = 175–200 bp. This is important for genetic counseling and also explains the commonly observed clustering of affected individuals in fragile X families.
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    Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 151-156 
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    Notes: Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion corresponds to the duplication that is commonly observed in patients with hereditary motor and sensory neuropathy type Ia (HMSNIa, 17p11.2–p12). Therefore, the gene for peripheral myelin protein 22 (PMP-22) is a candidate gene for both HMSNIa and HNPP. Here, we show that a similar deletion is present in one family with HNPP but is clearly absent in another family. Affected members of this family carry the expected two copies of the PMP-22 gene and the surrounding region. Furthermore, linkage analyses of this family exclude a large part of 17p, spanning the area deleted in other families with HNPP, as the location for the disease gene. These data strongly argue for the existence of genetic heterogeneity underlying HNPP. Results from two-point linkage analysis with markers on chromosome 1q are inconsistent with a possible involvement of the locus for HMSNIb in the present family.
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    Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 170-174 
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    Notes: Abstract Analysis of Bulgarian Duchenne/Becker muscular dystrophy (DMD/BMD) patients has demonstrated that deletions spanning exon 4 or exon 48 of the dystrophin gene account for about half of all patients, and that female relatives from these families constitute nearly 40% of all patients who require diagnosis of carrier status. We propose a relatively simple and inexpensive assay for the detection of deletion carriers based on a duplex PCR with radioactive 5′ end labeling of one of the PCR primers for each exon. The PCR amplification is performed under conditions of exponential relationship be tween template DNA and the amount of PCR product obtained, thus facilitating gene dosage. The quantification of the products, and especially the use of a coefficient estimating of the relative proportion of each exon in the total densitometric area, provide a reliable differentiation between carriers and non-carriers.
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    Sickle cell anemia, sickle cell β-thalassemia, and thalassemia major in Albania: characterization of mutations (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 182-187 
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    Notes: Abstract We have analyzed the hemoglobin abnormalities in nearly 50 Albanian patients with a significant hemoglobinopathy and included 37 relatives in this study. Sickle cell anemia (SS) is a common disorder; all 15 sickle cell anemia patients had the complications expected for this disease. The βs haplotype was type 19 (Benin); α-thalassemia-2 was rare. Three β-thalassemia alleles (IVS-I-110, G→A; codon 39, C→T; IVS-I-6, T→C) were present in nearly 85% of the β-thalassemia alleles; their frequencies were intermediate between those observed in the populations of neighboring countries. A few rare mutations were also found, which might have originated in India, Turkey, Macedonia, and Greece. Nearly all patients with Hb S-β-thalassemia had the IVS-I-110 (G→A) mutation. The frequencies of 11 β-thalassemia mutations in 17 mostly Mediterranean countries have been reviewed.
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    Mapping of the human gene encoding the mutual signal-transducing subunit (β-chain) of granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and interleukin-5 (IL-5) receptor complexes to chromosome 22q13.1 (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 198-200 
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    Notes: Abstract The human gene encoding the mutual signal-transducing subunit (β-chain) of granulocyte-macrophage colony-stimulating factor, interleukin-3, and interleukin-5 receptor complexes has been mapped to chromosome 22q13.1 by the fluorescence in situ hybridization method.
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    A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 204-206 
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    Notes: Abstract We describe a steroid 21-hydroxylase allele carrying four disease-causing mutations, viz. I173N, V282L, I237N+V238E+M240K, and the insertion of T at 308 L. The first two are established causes of partial enzyme deficiency, whereas the last two are known to result in the most severe, salt-wasting form of the disease. All four mutations are normally found in the pseudogene. This abnormal allele was found in the general Swedish population (6 out of 354 individuals), but has so far not been identified among 21-hydroxylase deficiency patients. The existence of alleles with multiple mutations illustrates the importance of segregating mutations for the correct genetic diagnosis of steroid 21-hydroxylase deficiency; an allele-specific polymerase chain reaction can be successfully employed for this purpose when families are unavailable.
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    Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes γ-aminobutyraldehyde (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 211-212 
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    Notes: Abstract A cDNA clone of the E3 isozyme of human liver aldehyde dehydrogenase consisting of a 1320-base pair (bp) coding region and a 180-bp non-coding region at the 3′ end was used for chromosomal localization of the E3 gene. Using a panel of human/hamster somatic cell hybrids we have localized, the gene coding for the E3 isozyme to human chromosome 1.
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    HaeIII polymorphism in intron 1 of the human p53 gene (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 222-222 
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    Notes: Abstract A new HaeIII polymorphism, which is found in the first intron of the human p53 gene, provides a genetic marker for tumor suppressor p53 gene alterations.
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    Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25 (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 218-221 
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    Notes: Abstract Three microsatellites and five restriction fragment length polymorphisms (RFLPs) have been detected at loci DXS275, DXS97, DXS11 and DXS100. All of the reported polymorphisms are in linkage equilibrium with existing polymorphisms at these loci. However, two RFLPs at DXS275 and two at DXS97 appear to be in linkage disequilibrium with each other. Increased informativity at these loci have enabled exclusion of Xq22-q25 as a candidate region for X-linked spina bifida and anencephaly, and should aid in the mapping of other genes in the region.
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    Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17) (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 227-227 
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    Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 383-388 
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    Notes: Abstract Classical satellites I, II and III are composed of a mixture of repeated sequences. However, each of them contains a simple family of repeated sequences as a major component. Satellites 2 and 3 are simple families of repeated sequences that form the bulk of human classical satellites II and III, respectively, and are composed of closely related sequences based on tandem repeats of the pentamer ATTCC. For this reason, extensive cross-hybridizations are probably responsible for the similar in situ hybridization patterns obtained for satellites II and III. We have used a fluorescent in situ hybridization method with highly specific oligonucleotides for satellites 2 and 3, respectively, as probes. Our results show that satellite 2 is mainly located on chromosomes 1, 2, 10 and 16, whereas the major domain of satellite 3 is on chromosome 9. Furthermore, minor sites of satellites 2 and 3 are shown. Two-colour in situ hybridizations have enabled us to define the spatial relationships existing between the major domains of both satellites and centromeric alpha satellite sequences. These experiments indicate that the heterochromatin regions of chromosomes 1, 9 and 16 have different molecular organizations.
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    Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 408-414 
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    Notes: Abstract Pure hereditary spastic paraparesis (HSP) is an upper motor neuron syndrome clinically characterized by slowly progressive weakness and spasticity of the legs. To determine the chromosomal location of the genetic defect, a five-generational Dutch family with autosomal dominant pure HSP was subjected to linkage studies. Analysis was carried out on 48 members spanning three generations, of whom 23 individuals are definitely affected. By screening the genome with a total of 167 microsatellite markers distributed over all autosomes, an exclusion map for HSP was constructed. Depending on the actual size of the human genome, our exclusion map covered between 40% and 65% of its autosomal length. Loci on chromosomes 1, 8, 13, 14, and 18 showed slightly positive lod scores. The areas around these loci were investigated more closely, but no conclusive evidence for, or against, linkage could be obtained.
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    Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 421-423 
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    Notes: Abstract Nonradioactive in situ hybridization with an α-satellite DNA probe specific for chromosome 18 was performed on human interphase sperm nuclei to detect the frequency of sperm cells disomic for chromosome 18. A total of 16127 sperm heads from eight healthy donors, aged 23–57 years, was investigated, and a minimum of 2000 sperm nuclei per proband was analyzed. The disomy rate ranged from 0.25% to 0.5%, with an average of 0.36%. This frequency does not differ significantly from that determined for other chromosomes.
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    Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 435-436 
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    Notes: Abstract A rapid, simple restriction isotyping method is described for the direct screening of a previously characterized Amerindian mitochondrial DNA (mtDNA) marker consisting of a 6-bp “Huetar” deletion. In a sample of 31 maternally non-related Chibchan Amerindian Bribri from Costa Rica, this deletion was present in 74%, arguing for the usefulness of this private polymorphism for Amer-indian taxonomic research.
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    Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 437-442 
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    Notes: Abstract A rare subgroup (approx. 5%) of all chronic granulomatous disease (CGD) patients suffers from mutations in the gene encoding the small p22-phox subunit of the flavocytochrome b 558 heterodimer, the terminal redox component of the phagocyte NADPH oxidase. A male CGD patient with neutrophil granulocytes devoid of any spectrometrically detectable cytochrome b 558 owing to autosomally inherited p22-phox deficiency (phenotype, A22−) is reported. The patient was identified as being compound heterozygous for two independent mutations of his p22-phox alleles. On the maternal allele a single base substitution (A186 to T) was found that predicts a nonconservative replacement of Glu 53 by Val. On his paternal p22-phox allele a G was found to be added to a G stretch between nucleotides G195 and G199 in the cDNA sequence. The resulting frame shift predicts an aberrant open reading frame, 16 amino acids longer than the normal p22-phox polypeptide. Genomic DNA was tested for the presence of the mutant allele by mismatch PCR (polymerase chain reaction). For this purpose, a single base mismatch was introduced at nucleotide position 189, leading to digestion of the normal allele by the restriction enzyme HinfI. The maternal allele was found to be present in 50% of the patient's DNA and in 50% of the DNA from his mother. The same mismatch PCR analysis with control DNA from 35 healthy individuals ruled out the possibility that the single base substitution (A186 to T) represents a common polymorphism. Inheritance of the second allelic mutation (G insertion) was verified by restriction enzyme analysis using BslI [CC(N)7GG] to digest PCR-amplified genomic DNA at the mutation site. PCR in combination with restriction enzyme analysis proved to be a powerful tool for verification of point mutations in the compound heterozygous CGD patient analyzed and may be used for prenatal diagnosis in this family.
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    Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 452-456 
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    Notes: Abstract Various polymorphic markers with a random distribution along the X chromosome were used in a linkage analysis performed on a family with apparently Xlinked recessive inheritance of neural tube defects (NTD). The lod score values were used to generate an exclusion map of the X chromosome; this showed that the responsible gene was probably not located in the middle part of Xp or in the distal region of Xq. A further refining of these results was achieved by haplotype analysis, which indicated that the gene for X-linked NTD was located either within Xp21.1-pter, distal from the DMD locus, or in the region Xq12–q24 between DXS106 and DXS424. Multipoint linkage analysis revealed that the likelihood for gene location is highest for the region on Xp. The region Xq26–q28, which has syntenic homology with the segment of the murine X chromosome carrying the locus for ‘bent tail’ (Bn), a mouse model for X-linked NTD, is excluded as the location for the gene underlying X-linked NTD in the present family. Thus, the human homologue of the Bn gene and the present defective gene are not identical, suggesting that more than one gene on the X chromosome plays a role in the development of the neural tube.
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    A Sau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 457-459 
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    Notes: Abstract Genomic clones encompassing the Huntington disease (HD) mutation were used to isolate a probe that detects size changes in the restriction fragments that contain the HD trinucleotide repeat (TNR). This probe also detects a frequent Sau3A polymorphism (allele sizes 1.8kb and 2.7kb), which maps approximately 950bp from the TNR. Examination of a number of HD families established that the frequency of the Sau3A alleles did not differ significantly between control and HD populations; however, the HD expansion was always present on a chromosome that contained the 1.8-kb Sau3A allele. This association between a specific allele and the HD TNR expansion was significant and could provide a clue to the chromosomal elements that produce the trinucleotide expansion on the Huntington disease chromosome.
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    A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 463-466 
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    Notes: Abstract A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, from the relevant region, the distal deletion breakpoint was shown to be between 3.18 and 3.57 Mb from Xptel. As the patient is not affected by X-linked recessive chondrodysplasia punctata, the gene for this disease can therefore be located to within an interval of less than one megabase proximal to the pseudoautosomal boundary. If the chondrodysplasia punctata gene is associated with a CpG island, this leaves only two islands at 2760 and 3180 kb from the Xp telomere as the most promising candidate sites for this gene.
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    Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens (1994)
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    Human genetics 〈Berlin〉 93 (1994), S. 488-493 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
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    Notes: Abstract Fragile X syndrome is a genetic disorder caused by abnormal function of the FMR-1 gene. The majority of fragile X syndrome patients carry an expansion of the CGG tri-nucleotide repeat in the FMR-1 gene, whereas others have a deletion or a point mutation in the FMR-1 structural gene. In this report, we analyzed a typical family with three male patients. RNA from Epstein-Barr virus transformed lymphoblastoid cells was used for RNase protection assay and reverse transcription-polymerase chain reaction (RT-PCR) analysis. Five normal individuals and one asymptomatic heterozygote from this family expressed detectable FMR-1 transcripts, whereas three fragile X patients showed no sign of expression with either assay. To extend the application of this PCR-based assay to laboratory diagnosis of fragile X syndrome, we confirmed that dried blood samples collected on screening filter papers for newborns are an adequate source of RNA for RTPCR. Moreover, fragile X patients from the study family and another family were reliably identified by the absence of the FMR-1-specific PCR product from the dried blood specimens. Our studies indicate that this simple assay can be used to diagnose the fragile X syndrome for the majority of male patients.
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    Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 80-82 
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    ISSN: 1432-1203
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    Notes: Abstract Synthesis of glycosaminoglycans (GAGS) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between postnatal aneuploid strains and controls.
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    Identification of deletions in thebtk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 77-79 
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    Notes: Abstract Mutations within thebtk gene have recently been shown to cause X-linked agammaglobulinaemia (XLA). Altered patterns of DNA restriction fragments are seen by Southern blot analysis of DNA from affected patients with deletions in thebtk gene. We have identified seven affected families in which altered restriction fragments can be used to diagnose and confirm the carrier status of female relatives of affected boys and in prenatal diagnosis.
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    A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 83-87 
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    ISSN: 1432-1203
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    Notes: Abstract Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one duplication including exons from 3 to 43 is the largest reported so far. Data from this study were combined with those from the literature and breakpoint distribution by intron was analysed. In general breakpoints occur mostly in the proximal third of the gene, in particular in intron 7. However, both the frequency of duplications and the distribution of breakpoints by intron are different in the Japanese sample compared with the other groups of patients. The role of geographical differentiation of intron sequences by genetic drift and of transposon-like sequences in explaining these differences is discussed.
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    Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 95-96 
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    ISSN: 1432-1203
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    Notes: Abstract DNA markers YNZ22.1 and YNH37.3 were studied by Southern blotting in 14 patients with typical (11 cases) and atypical (3 cases) type 1 Lissencephaly, all with normal high resolution karyotype. A submicroscopic deletion was found in 2 typical cases: one with Miller-Dieker Syndrome (MDS), the other with Isolated Lissencephaly Sequence (ILS). These results suggest a genetic continuum between MDS and ILS. The low frequency of such deletions, especially in ILS, will necessitate direct testing of the newly identified LIS 1 gene.
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    A human cDNA coding for the Leydig insulin-like peptide (Ley I-L) (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 91-94 
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    ISSN: 1432-1203
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    Notes: Abstract cDNA clones for the human Leydig insulin-like peptide (Ley I-L) have been isolated and characterized. The nucleotide sequence of the 743-bp cDNA includes an incomplete 7-bp 5′-noncoding region, an open reading frame of 393 bp, and a 343-bp 3′-noncoding region. By primer extension analysis, the transcription start site was determined as being 14-bp upstream of the translation start site. The underlying gene is expressed in the testis but not in other organs. From the cDNA sequence, it can be deduced that the Ley I-L protein is synthesized as a 131-amino-acid (aa) preproprotein and that it contains a 24-aa signal peptide. Comparison of the pro Ley I-L protein with members of the insulin-like hormone superfamily predicts that the biologically active hormone, after proteolytic processing of the C peptide, consists of a 31-aa long B chain and a 26-aa long A chain, and that it has a molecular weight of 6.25 kDa.
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    A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 97-100 
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    ISSN: 1432-1203
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    Notes: Abstract A new mutation, the first one close to the 5′-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 by of exon 3 precisely from the cDNA. Genomic Southern blots revealed a larger deletion with breakpoints within the introns flanking exon 3. This mutation suggests that the amino-terminal region of neurofibromin is functionally significant. When using this mutation to distinguish the wild type and mutant alleles, their expression could be analysed in neurofibroma fibroblasts, melanocytes from the unaffected skin, and those from a café-au-lait macule. In all these cell types, the products of both alleles were detected, confirming similar results obtained with a different NFl gene mutation.
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    BamHI restriction fragment length polymorphism (RFLP) at the human GST3 gene locus (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 107-108 
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    ISSN: 1432-1203
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    Notes: Abstract A new restriction fragment length polymorphism (RFLP) detected for the human glutathione S-transferase-pi (GST3) gene with the restriction endonuclease,BamHI (GGATCC) is described. Because of the association of GST isozymes with certain human diseases, the data on involvement of different GST loci, their chromosomal location and information on RFLPs are of potential diagnostic value.
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    Dinucleotide repeat polymorphism at 11q23 (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 109-109 
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    Notes: Abstract A highly polymorphic CA repeat sequence was identified near the NCAM gene on chromosome 11q23. It should be a useful marker in the localization of genes responsible for neurological disorders that are known to map to this region.
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    Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 111-116 
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    ISSN: 1432-1203
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    Notes: Abstract One third of mutations responsible for Duchenne or Becker muscular dystrophy (DMD/BMD) represent point mutations or other small sequence alterations not readily detectable by Southern blot analysis or multiplex amplification. Here, we report results of a comprehensive point mutation search that yielded seven new sequence variations and one novel polymorphism. We also summarize known mutations, polymorphisms and other small nucleotide variations in the DMD gene. To date, 12 nonsense mutations, two missense mutations, six microdeletions and one microinsertion have been reported in the coding sequence and a further six mutations in splice sites all of which were made responsible for the disease. Twelve polymorphisms with frequencies suitable for diagnostic purposes have been detected. A further 28 differences from the published sequence of the coding sequence or the promotor region are described.
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    Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 141-148 
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    Notes: Abstract A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindreds: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been performed in the B.C. family and in a newly identified Manitoba Mennonite family with X-linked cleft palate and ankyloglossia. The Manitoba CPX locus maps to the same region as Icelandic and B.C. CPX. Two-point disease-tomarker linkage analyses in the Manitoba family indicate a maximum lod score (Zmax) between CPX and DXS349 (Zmax=3.33 at $$\hat \theta$$ ). In multipoint linkage analysis, combined data from the B.C. and Manitoba families suggest that the most likely location for CPX is at DXS447 in Xq21.1 (multipoint Z=13.5). The support interval for CPX at DXS447 extends approximately from PGK1 to DXYS1 and includes a newly isolated polymorphic locus DXS1109.
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    Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 154-158 
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    Notes: Abstract Optimal temperature conditions for the detection of 28 known mutations on 15 exons of the human cystic fibrosis transmembrane conductance regulator gene by single strand conformation polymorphism analysis using the Diagen TGGE Apparatus were established. This procedure was applied to the detection of unknown mutations in 58 non-deltaF508 chromosomes. Three novel mutations,-471del3 (5′ flanking region), 3171insC (exon 17a) and 4700(T)8/9 (3′ non-translated region) of the CFTR gene were found. Mutation 3171insC occured in conjunction with the delta F508 mutation on the other allele of a child presenting with severe pathology. Mutation -471 del3 has so far only been found in one healthy individual and her father, and 4700(T)8/9 is a DNA sequence polymorphism.
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    Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 159-164 
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    Notes: Abstract We have looked for genes for ferritin and its translational control protein that could account for anomalies in the expression of ferritin (FT) and the transferrin receptor in the duodenum of individuals with hemochromatosis (HC). We show that there are probably only two FTH-like sequences near the HC locus on the short arm of chromosome 6 and no FTL-like sequences. We report the cloning of the previously uncharacterized FTH sequence from 6p (FTHL15) and show that it is probably a processed pseudogene. This gene has been mapped with a panel of radiation hybrid cells to near 6p12. Additionally, we show that there are no sequences on chromosome 6p for a protein that coordinately regulates expression of ferritin and the transferrin receptor.
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    Familial resemblance for immunoglobulin levels (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 179-185 
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    Notes: Abstract The familial resemblance for immunoglobulin A, D, E, G, and M levels was investigated with family data collected in Canada and the U.S., entertaining both multifactorial and single gene hypotheses. Significant familial effects were found for each of the immunoglobulins, and there was significant support for a major gene hypothesis for IgA and IgD levels. Whereas there have been several reports suggesting a major gene determinant for IgE levels, including that from our own Canadian study, analysis of the U.S. sample suggested that a multifactorial component parsimoniously explained the observed familial resemblance.
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    Chromosomal localization of the human histamine H1-receptor gene (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 186-188 
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    Notes: Abstract We have assigned the human histamine H1-receptor gene to chromosome 3 by Southern blot analysis of a chromosome mapping panel constructed from humanhamster somatic cell hybrids. This assignment was confirmed by in situ hybridization on metaphase chromosomes and involved bands 3p14–p21.
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    Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172 (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 193-194 
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    Notes: Abstract Arrestin is a component of the light transduction cascade that takes place in the outer segment of retinal rods. In situ hybridization and linkage analysis have localized the arrestin gene to a region of 50 cM between CRYGα and D2S23/D2S55 on chromosome 2q24–37. We have performed pairwise and multipoint linkage analysis between arrestin and four highly polymorphic markers from this region. The results indicate tight linkage between the gene and the microsatellite D2S172 (Z max = 9.25 at θ=0.038). This fine localization of the gene should provide a useful tool for cosegregation analyses involving the arrestin gene.
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    Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Karelian patients with coronary heart disease (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 189-192 
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    Notes: Abstract The genes encoding apolipoproteins (apos) A-I, B, C-III and E as well as that encoding the angiotensin converting enyzme (ACE) have been proposed as candidate genes for coronary heart disease (CHD). We determined the common polymorphisms of the apo genes, previously found to influence serum lipid levels at the population level, and the insertion/deletion polymorphism of the ACE gene, recently reported to reflect the risk of myocardial infarction, in 82 very young (mean, 41 years) North Karelian Finns with symptomatic CHD and 50 controls of similar age. Patients with familial hypercholesterolemia had been excluded from this material. None of the polymorphisms examined, including the apo A-I promoter MspI, apo C-III SstI and apo B XbaI restriction fragment polymorphisms, a common variation of apo E (ɛ2, ɛ3 and ɛ4 alleles) and an ACE insertion/deletion (I/D) polymorphism, was significantly associated with the risk of premature CHD. Patients with CHD had a higher mean serum LDL cholesterol/HDL cholesterol ratio than controls (3.15±1.30 vs 2.72±0.98, P 〈 0.05), but no significant associations between the common apo gene polymorphisms and serum lipid levels were disclosed in either group. It is possible that other genetic loci than those proposed to be associated with accelerated atherosclerosis may be more important as risk factors of symptomatic CHD at the age of 40 years.
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    Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 331-338 
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    Notes: Abstract A human aniridia candidate (AN) gene on chromosome 11p13 has been cloned and characterized. The AN gene is the second cloned gene of the contiguous genes syndrome WAGR (Wilms' tumor, aniridia, genitourinary malformations, mental retardation) on chromosome 11p13, WT1 being the first gene cloned. Knowledge about the position of the AN and WT1 genes on the map of 11p13 makes the risk assessment for Wilms' tumor development in AN patients possible. In this study, we analyzed familial and sporadic aniridia patients for deletions in 11p13 by cytogenetic analyses, in situ hybridization, and pulsed field gel electrophoresis (PFGE). Cytogenetically visible deletions were found in 3/11 sporadic AN cases and in one AN/WT patient, and submicroscopic deletions were identified in two sporadic AN/WT patients and in 1/9 AN families. The exact extent of the deletions was determined with PFGE and, as a result, we could delineate the risk for Wilms' tumor development. Future analyses of specific deletion endpoints in individual AN cases with the 11p13 deletion should result in a more precise risk assessment for these patients.
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    DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 401-406 
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    Notes: Abstract The molecular basis for DNA haplotype-dependent debrisoquine 4-hydroxylase (CYP2D6) expression was explored by sequencing all of the nine exons of the CYP2D6 gene. Two distinct exon sequence frameworks of the CYP2D6 gene were found, each associated with specific BamHI-defined DNA haplotypes of the CYP2D cluster. They corresponded to Arg296/Cys296 and Ser486/Thr486 amino acid polymorphisms in the CYP2D6 enzyme, and occurred in almost equal frequency among the Caucasians examined. These two major allozymes with amino acid differences in the presumed substrate recognition region and in the vicinity of the heme binding site could be the source of the observed DNA haplotype-dependent variation in phenotypic expression.
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    Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 411-417 
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    Notes: Abstract The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432 fetuses or liveborns with an additional chromosome 13, 14, 15, 21, or 22. Our studies suggest that there is little variation in the origin of nondisjunction among the five acrocentric trisomies and that there is no association between the origin of nondisjunction and the likelihood of survival to term of the trisomic conceptus. The proportion of cases of paternal origin was similar among the five trisomies: 12% for trisomy 13, 17% for trisomy 14, 12% for trisomy 15, 9% for trisomy 21, and 11% for trisomy 22. The stage of nondisjunction was also similar among the five trisomies, with the majority of cases of maternal origin being due to nondisjunction at meiosis I, whereas for paternally derived cases, nondisjuction occurred primarily at meiosis II.
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    Interleukin 1 receptor antagonist gene polymorphism association with lichen sclerosus (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 407-410 
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    Notes: Abstract Cytokines play key roles in immune responses, inflammation and fibrosis. The balance between levels of cytokines, their receptors and specific inhibitors controls inflammatory reactions in tissues. The pathogenesis of lichen sclerosus is unknown but probably involves cytokine mediators such as interleukin 1 (IL-1) and interleukin 1 receptor antagonist (IL-1ra). The IL-1ra is a competitive inhibitor of IL-1α and IL-1β, and therefore is a powerful endogenous anti-inflammatory molecule. The gene encoding IL-1ra (designated IL-1RN) has a variable number tandem repeat polymorphism in intron 2. There are five alleles of the gene corresponding to 2, 3, 4, 5 and 6 repeats of an 86-bp sequence. We have determined allele frequencies in a control population and a group of 78 patients with lichen sclerosus. The frequency of one of the alleles is related to increasing disease severity. Thus, IL-1RN may be a candidate gene or severity factor for lichen sclerosus or may possibly be a linked marker to another, as yet undefined, gene.
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    Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 418-422 
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    Notes: Abstract We identified two informative polymorphisms in the transcribed 3′ untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the poly-merase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These poly-morphisms demonstrated Mendelian inheritance and were useful for linkage analysis. TNFR2 was very closely linked to the pronatriodilatin gene (PND), and the TNFR2 SSCP polymorphisms were much more informative than the restriction fragment length polymorphisms currently available for the PND locus. In addition, we have demonstrated that genotyping could be performed with DNA obtained from paraffin-embedded tissue.
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    Parental origin of the extra chromosomes in polysomy X (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 423-426 
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    Notes: Abstract Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48, XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and the extra X chromosomes in 48 X polysomies were paternal. In each case the multiple X chromosomes were contributed by a single parent. Taken together with previously reported cases, these data support a single mechanism of sequential nondisjunction during either maternal or paternal gametogenesis as the cause of higher order sex chromosome polysomy.
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    Fine mapping of human PI 3-kinase associated p85α transcripts in the YAC contig surrounding the spinal muscular atrophy gene (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 427-431 
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    ISSN: 1432-1203
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    Notes: Abstract During a search for transcribed sequences within the gene region for autosomal recessive spinal muscular atrophy (SMA), two cDNA clones were isolated from a human fetal brain and an adult spinal cord cDNA library, respectively, by use of the cosmid LA96B (LAS96). The clones sized 950 bp and 1733 bp detect a 7.7-kb transcript in all tested human tissues. An additional transcript of 6.6 kb is detectable in brain and kidney, and faintly in skeletal muscle and liver. Using comparative human Northern blot analysis, the isolated LA96B cDNA clones could be identified as parts of the 3′ untranslated region from the phosphatidylinositol 3 (PI 3)-kinase associated p85α transcripts; these were unknown up to now. The 5′ end of the gene was mapped to YAC-EFTA: A, whereas the 3′ end was localized within the distal overlapping YAC 85 flanking the SMA candidate gene region.
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    Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus (1994)
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    Human genetics 〈Berlin〉 94 (1994), S. 432-436 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report on linkage analysis and haplotype characterization in 12 Cuban families with autosomal dominant polycystic kidney disease (ADPK) using PKD1-linked markers. They included both standard restriction fragment length polymorphisms (26.6., BLu24, and pGGGl) as well as microsatellite polymorphisms (CW2, 16AC2.5, and SM6). All of the examined families were fully informative for genetic diagnosis and no evidence of unlinked families was found. Analysis of two recombination events places PKD1 distal to the marker BLu24 and reduces the size of the region likely to contain the disease gene by approximately 300 kb. The allele frequencies of each marker were similar in the ADPKD and normal populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201607
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  • 96
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    Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 441-441 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Two novel point mutations in the gp91-phox gene of two Japanese with X-linked chronic granulomatous disease were identified by sequence analysis of polymerase chain reaction amplified DNA fragments
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201609
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  • 97
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    Etiological aspects of congenital diaphragmatic hernia: results of a case comparison study (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 445-446 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report the results of a parental questionnaire concerning possible etiological and teratological factors, such as exposure to herbicides, in the development of congenital diaphragmatic hernia (CDH). The herbicide Nitrofen interferes with lung development in rats, can induce diaphragmatic hernia and greatly resembles thyroid hormone. No association with the studied teratogens nor with maternal thyroid dysfunction was found. The questionnaire was completed by 33 parents whose baby had CDH, and by 43 couples whose baby had oesophageal atresia. The resemblance of Nitrofen to thyroid hormone, a well-known growth factor for the developing lung, is of particular interest from a pathogenetic point of view in the development of CDH.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201611
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  • 98
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    Electronic Resource
    Characterization of several DNA polymorphic markers in the LIF gene region (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 450-451 
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    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe seven restriction fragment length polymorphisms (RFLPs) in the Leukemia Inhibitory Factor (LIF) gene region. These new markers, found using a cosmid contig, have been used to map precisely the chromosome 22 long arm.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201613
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  • 99
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    Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 447-449 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In an attempt to characterize disease producing mutations in the factor VIII gene we screened exons 4, 7, 8, 11, 12 and 16 by PCR-SSCP (polymerase chain reactionsingle strand conformation polymorphism), in 12 randomly selected haemophilia A patients. These exons were chosen because they have been reported to harbour a disproportionately high number of mutations relative to their size. Using this strategy we detected a frame-shifting 5-bp deletion (TACCT, involving nucleotides 519–523), which is predicted to result in a severely truncated factor VIII polypeptide, terminating approximately midway through the conserved A1 domain and resulting in the observed severe phenotype. We also showed that the sequence in the vicinity of the observed deletion is concordant with the modified “slipped-mispairing at DNA replication” model of Krawczak and Cooper.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201612
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  • 100
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    Electronic Resource
    A PvuII polymorphism near exon 2 of the dystrophin gene (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 454-455 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report a PvuII polymorphism near exon 2 of the dystrophin gene with a heterozygosity frequency of 0.5.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201615
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