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  • 1
    Electronic Resource
    Electronic Resource
    A human cDNA coding for the Leydig insulin-like peptide (Ley I-L) (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 91-94 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02272850
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  • 2
    Electronic Resource
    Electronic Resource
    Untersuchungen von Proteinpolymorphismen an einer Familie mit gehäuften Chromosomenaberrationen (1969)
    Springer
    Human genetics 〈Berlin〉 8 (1969), S. 33-38 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a family, two children exhibited chromosome aberrations: a male infant had trisomy G1 and his sister Bp deficiency (cri du chat-syndrome). Screening for proteinpolymorphisms within three generations revealed heterozygosity for two enzyme variants, LDH BB' and 6-PGD AB, in a number of family members, some of whom were double heterozygotes. Linkage can not be tested since these variants are derived from different sibships. An aunt of the affected children exhibited a LDH isoenzyme pattern as it is to be expected in a protein chimaera. In addition, a high number of aneuploid and polyploid cells, including endomitoses, were present in the blood of this proband, and similarly in her mother. The origin of the chimaera is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286753
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  • 3
    Electronic Resource
    Electronic Resource
    Screening for minute deletions in patients with suspected cri-du-chat syndrome and apparently normal karyotype (1969)
    Springer
    Human genetics 〈Berlin〉 8 (1969), S. 105-110 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Messungen der B-Chromosomen wurden in Metaphasen verschiedener Probanden durchgeführt: 1. drei Patienten mit Verdacht auf Cri du Chat-Syndrom ohne sichtbare Defizienz am kurzen Arm von Chromosom 5; 2. vier Patienten mit deutlich erkennbarer Defizienz; 3. drei gesunde Vergleichspersonen mit unauffälligem Karyotyp. Eine Deletion war in keinem der Verdachtsfälle nachweisbar. In der Gruppe mit Defizienz zeigte sich eine erhebliche Variation im Ausmaß des deletierten Segments. In Ergänzung zu Methoden der Chromosomenmessung anderer Autoren (vgl. Warburton et al., 1967, 1969; Miller et al., 1969) wird eine weitere einfache Methode angewendet, die unter geringem Aufwand in Zweifelsfällen Aufschluß über das Vorhandensein und Ausmaß einer Deletion am kurzen Arm eines B-Chromosoms geben kann.
    Notes: Summary Measurement studies were carried out on the B-group chromosomes in three patients with suspected cri-du-chat syndrome, four karyotypically confirmed cases of the syndrome and three normal subjects. None of the propositi showed a detectable short-arm deletion. Within the four cases with obvious short arm deletion the amount of the deletion varies to a high degree. In addition to the technique of chromosome measurement proposed by other authors (e.g. Warburton et al., 1967, 1969; Miller et al., 1969), we present another method easely to apply for screening purposes in cases in which a deletion is not readily detectable, blind studies were unsuccessful, or when the amount of the deletion ought to be demonstrated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295833
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  • 4
    Electronic Resource
    Electronic Resource
    Tandemchromosom (G/G) mit Satelliten am kurzen und langen Arm bei einem Patienten mit Translokationstrisomie G1 (1970)
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 361-371 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Wir berichten über einen Patienten mit dem Vollbild des Down-Syndroms und spontaner Translokationstrisomie G1. Das Translokationschromosom ist aus einer Tandemfusion zwischen zwei G-Chromosomen hervorgegangen und trägt Satelliten am kurzen und langen Arm. Es kann auch autoradiographisch nicht entschieden werden, welche G-Chromosomen an der Translokation beteiligt sind. Aus der Literatur bekannte G/G-Tandemfusionen werden mit unserem Fall verglichen und mögliche Entstehungsmechanismen des Tandemchromosoms diskutiert.
    Notes: Summary Report on a patient with features characteristic of Down's syndrome, trisomic for a G-group chromosome due to G/G translocation. The acrocentric translocation chromosome is assumed to be the product of a tandem-fusion event and is endowed with satellites on both short and long arm. The identification of the G-chromosomes involved in this translocation could not be achieved by means of autoradiography. Discussion bears on possible mechanisms leading to the formation of the tandem-chromosome (with additional long arm satellites). Reports of similiar published cases are revised.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286998
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  • 5
    Electronic Resource
    Electronic Resource
    Expression and chromosomal mapping of the gene encoding the human histone H1.1 (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 633-639 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The expression of a human histone H1 isoform (H1.1) was studied in several human tissues. Northern blot analysis has revealed that this gene is expressed in testis and thymus, but not in other human tissues. In this report, we demonstrate that the expression of the histone H1.1 gene in human testis is restricted to early round spermatids that belong to the fraction of postmeiotic sperm cells. Transcripts hybridizing with the human H1.1 gene could not be detected in testis of mouse, rat, bull or boar. Southern blot analysis with human genomic DNA, DNA from different Old World monkeys (chimpanzee, orangutan, gorilla and rhesus monkey) and DNA from several mammalian species has revealed that the histone H1.1 gene is highly conserved in higher primates, whereas no cross-hybridization can be detected with DNA from other mammalian species such as mouse, rat, hamster or bull. In a previous report, the human histone H1.1 gene and other H1 genes (H1.2–H1.5, H1t) were assigned to chromosome 6 by polymerase chain reaction analysis using human-rodent cell hybrid DNA; fluorescence in situ hybridization indicated that these genes form part of a major gene cluster on the short arm of chromosome 6. We have confirmed the localization of histone H1.1 to chromosome 6 and have regionally assigned the locus to 6p21.3 by radioactive in situ hybridization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206957
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  • 6
    Electronic Resource
    Electronic Resource
    Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter’s karyotype: a FISH analysis (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 474-477 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Meiotic segregation of the sex chromosomes was analysed in sperm nuclei from a man with Klinefelter’s karyotype by three-colour FISH. The X- and Y-specific DNA probes were co-hybridized with a probe specific for chromosome 1, thus allowing diploid and hyperhaploid spermatozoa to be distinguished. A total of 2206 sperm nuclei was examined; 958 cells contained an X chromosome, 1077 a Y chromosome. The ratio of X : Y bearing sperm differed significantly from the expected 1 : 1 ratio (χ2 = 6.96; 0.001 〈 P 〈 0.01). Sex-chromosomal hyperhaploidy was detected in 2.67% of the cells (1.22% XX, 1.36% XY, 0.09% YY) and a diploid constitution in 0.23%. Although the frequency of 24,YY sperm was similar to that detected in fertile males, the frequencies of 24,XX, 24,XY and diploid cells were significantly increased. A sex-chromosomal signal was missing in 4.26% of the spermatozoa. This percentage appeared to be too high to be attributed merely to nullisomy for the sex chromosomes and was considered, at least partially, to be the result of superposition of sex-chromosomal hybridization signals by autosomal signals in a number of sperm nuclei. The results contribute additional evidence that 47,XXY cells are able to complete meiosis and produce mature sperm nuclei.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050391
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  • 7
    Electronic Resource
    Electronic Resource
    Autoradiographische Identifizierung der an zentrischen Fusionen beteiligten D-Chromosomen bei fünf nichtverwandten Familien: t(14qGq); t(14qGq); t(15qGq); t(13q14q); t(13q15q) (1970)
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 140-149 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Wir berichten über autoradiographische Untersuchungen der D-Chromosomen bei 5 nichtverwandten Familien mit Fusionstranslokationen. Aus der Literatur sind bislang 54 ähnliche Fälle bekannt, die zumeist über klinisch auffällige Individuen entdeckt wurden. Innerhalb dieser Stichprobe ist die Häufigkeit, mit der bestimmte akrozentrische Chromosomen miteinander fusionieren, nicht zufällig. Als mögliche Ursachen werden einerseits die Auswahl der Stichprobe und andererseits einige cytogenetische Mechanismen diskutiert. Erst über auslesefreie cytogenetische Populationsuntersuchungen kann entschieden werden, inwieweit die in der Stichprobe beobachteten Häufigkeiten mit denen in der Durch-schnittsbevölkerung übereinstimmen.
    Notes: Summary DNA replication studies were carried out on the D-group chromosomes involved in the centric-fusion type chromosomal disorder in members of 5 non-related families. Ascertainement of similiar cases thus far has, almost exclusively, been achieved by investigation of non-balanced carriers. Within a total of 54 patients reported in the literature autoradiography revealed D-acrocentrics to be non-randomly involved. This might be due to ascertainement bias or to endogenous chromosomal mechanisms, as is discussed. It is considered impossible, however, to provide further evidence for the presumed excess of some types of translocation unless selection-free samples have been investigated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278929
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  • 8
    Electronic Resource
    Electronic Resource
    Zum Mechanismus der Diploidisierung in der Wirbeltierevolution: Koexistenz von tetrasomen und disomen Genloci der Isocitrat-Dehydrogenasen bei der Regenbogenforelle (Salmo irideus) (1970)
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 150-156 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Beim Hering und bei der Regenbogenforelle finden sich genetisch determinierte Polymorphismen für die Überstands-(S-) und die mitochondriale (M-)Form der NADP-abhängigen Isocitrat-Dehydrogenasen (IDH). Beide Enzymformen verhalten sich wie dimere Moleküle. Beim Hering ist für beide Formen auf jeweils einen Genlocus mit 2 Allelen zu schließen. Entsprechend der tetraploiden Herkunft sind bei der Regenbogenforelle individuelle Genloci gegenüber dem Hering verdoppelt. Für die M-Form der NADP-IDH existieren bei dieser Forelle 2 verschiedene Genloci; an einem der beiden loci wurden 2 Allele gefunden. Für die S-Form ist nur 1 Genlocus mit 4 Allelen nachweisbar. In einer Stichprobe von 135 Individuen fanden sich 9 verschiedene Phänotypen, darunter 3 mit einer 3-Allelen-Kombination. Dieser Befund ist interpretierbar unter der Annahme eines tetrasomen Erbganges für die S-IDH. Der Mechanismus der Diploidisierung phylogenetisch tetraploider Organismen wird im Hinblick auf die Säugerevolution diskutiert.
    Notes: Summary In the herring (Clupea harengus) and trout (Salmo irideus), the supernatant (S-) and mitochondrial (M-)form of the NADP-dependent isocitrate dehydrogenases (IDH) exhibit genetically determined polymorphisms. Both enzyme forms behave as dimeric molecules. In the herring, for each form, it can be inferred that 1 gene locus with 2 alleles exists. According to the tetraploid origin of the trout, individual gene loci are duplicated as compared to those of the herring. For the M-form of the enzyme, 2 different gene loci exist in the trout; at 1 of these loci 2 alleles were found. For the S-form only a single gene locus can be demonstrated. In a random sample of 135 individuals, 9 different phenotypes were observed, among which 3 exhibited a 3-allele combination. This finding can be interpreted, assuming a tetrasomic inheritance of the S-form IDH. The diploidization mechanism of phylogenetically tetraploid organisms is discussed with respect to mammalian evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278930
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  • 9
    Electronic Resource
    Electronic Resource
    Genduplikation durch polyploide Evolution: die Isoenzyme der Sorbitdehydrogenase bei herings- und lachsartigen Fischen (Isospondyli) (1970)
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 157-163 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die elektrophoretische Analyse der Isoenzyme der Sorbitdehydrogenase (SDH) bei verschiedenen Säugerspecies unter Einschluß des Menschen läßt darauf schließen, daß bei Säugern nur 1 Genlocus für dieses Enzym existiert. Auch bei Knochenfischen läßt sich in der Regel nur 1 SDH-Gen nachweisen. Eine Ausnahme bilden einige Species der Fischordnung Isospondyli. Innerhalb dieser Ordnung findet sich eine Diploid-tetraploid-Beziehung. Arten mit diploiden Charakteristika wie der Hering (Clupea harengus) besitzen 1 SDH-locus, an dem 3 Allele zu beobachten waren. Bei einigen phylogenetisch tetraploiden lachsartigen Fischen läßt sich eine Duplikation des SDH-Gens nachweisen. Während bei der Bachforelle (Salmo trutta) die nach der Tetraploidisierung zunächst identischen loci sich divergent entwickelt haben und jetzt diploidisiert sind, zeigen Regenbogenforelle (Salmo irideus) und Blaufelchen (Coregonus lavaretus) tetrasome Phänotypen der SDH. Beim Blaufelchen findet sich ein Überschuß an Heterozygoten, der auf eine meiotische Vorzugspaarung der Chromosomen mit identischen Allelen schließen läßt. Diese Befunde geben Einblick in den Mechanismus der Diploidisierung, der in der Evolution der höheren Wirbeltiere eine wesentliche Rolle gespielt haben dürfte.
    Notes: Summary Electrophoretic analysis of the sorbitol dehydrogenase isozymes (SDH) in various mammalian species including man revealed the existence of only 1 gene locus for this enzyme. As a rule, the same is true for Teleostean fishes. Some species of the fish order Isospondyli, however, represent an exception. Within this order, a diploid-tetraploid relationship exists. Species exhibiting diploid characteristics as the herring (Clupea harengus), are endowed with a single SDH gene locus at which 3 different alleles were observed. In some Salmonoid fish having passed through tetraploid evolution, a duplication of the SDH gene can be demonstrated. While in Salmo trutta the duplicated genes evolved divergently and became diploidized, in Salmo irideus and Coregonus lavaretus tetrasomic phenotypes occur. In Coregonus, the predominance of heterozygotes is to be interpreted as the consequence of preferential pairing of meiotic chromosomes endowed with identical alleles. These findings give some insight in the diploidization mechanism which may have played an important role during evolution of higher vertebrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278931
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  • 10
    Electronic Resource
    Electronic Resource
    The application of photoemission microscopy to the study of heterogeneous reactions over metal single crystal surfaces (1989)
    Springer
    Applied physics 49 (1989), S. 399-402 
    Details
    ISSN: 1432-0630
    Keywords: 79.60.−i ; 61.16.Di ; 68.35.Bs ; 68.45Da
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Abstract The development of UHV instrumentation for photoemission electron microscopy (PEEM) has opened up the possibility of investigating in situ the morphology of metal single crystal surfaces during simple catalytical reactions in the pressure range up to 10−4 mbar. We have studied the Pt(100) surface during the transition from the high to low rate branches of the CO oxidation reaction. Steps, step bunches and grain boundaries have been identified. They play an important role in the decomposition of CO and the deposition of carbon and probably regulate the reactivity of the Pt surface.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00615023
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