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  • Mutation  (1,171)
  • American Association for the Advancement of Science (AAAS)  (1,133)
  • Springer  (38)
  • Elsevier
  • 2020-2024
  • 2005-2009  (538)
  • 1995-1999  (633)
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Comparison of symbiotic effectiveness of Rhizobium sp. with positive hydrogen-uptake activity compared with negative mutants in relation to nitrogen fixation in mungbean (Vigna radiata L.) (1995)
    Springer
    Biology and fertility of soils 20 (1995), S. 270-274 
    Details
    ISSN: 1432-0789
    Keywords: Mungbean ; Vigna radiata ; Nitrogen fixation ; Hydrogen uptake ; Mutation ; Nitrosoguanidine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Geosciences , Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Abstract H2 uptake activity was well distributed in Rhizobium sp. strains isolated from nodules of mung-bean (Vigna radiata L.). Two effective strains, RMP1 und RMP2, exhibiting significantly higher H2 uptake activity were subjected to mutagenesis with nitrosoguanidine. The respective mutation frequencies were 0.18 and 0.19%. Three Hup- mutants each of RMP1 und RMP2 were compared with the wild-type parent strains under pot culture experiments to evaluate the significance of the H2 uptake system in biological N2 fixation. Nodulation capabilities, plant growth characteristics, and the chlorophyll content of the leaves were significantly reduced in the plants treated with Hup- mutants. Nitrogenase activity in Hup- nodules was reduced by 8–41%. Similarly, N accumulation was also reduced singificantly.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00336089
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  • 2
    Electronic Resource
    Electronic Resource
    Constraints on mutability in a multiallelic gene family (1995)
    Springer
    Journal of molecular evolution 41 (1995), S. 732-740 
    Details
    ISSN: 1432-1432
    Keywords: Mutation ; Nearest ; neighbor effects ; DNA structure ; Brassica incompatibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A highly variable family of related DNA sequences was examined in order to determine the effect of local sequence environment on substitution mutation; 29 sequences from the Brassica self-incompatibility gene family, which possess a high level of nonsynonymous mutations, were aligned and grouped according to their similarity and function. The level and distribution of substitution mutations were calculated. A nonrandom distribution of sequence variation was observed along the sequences. The effect of neighbor biases and structural and thermodynamic measures were then compared in the absence of strong codon conservation. Biases were observed in the rates of substitution of the same base pair in different local sequence environments. The effect of the 5′ neighbor was such that nucleotide A or C was associated with more mutations than G or T. There were significant interactions of certain dinucleotides with the frequency of mutation. Sequence-dependent measures of helical stability, intrinsic curvature, components of curvature, and stacking interactions were calculated for each sequence. Decreased helical stability was found to be associated with increased mutation. The compound measure of curvature, calculated according to the “wedge” model, showed little association with mutation. However, the components of increased wedge angle and decreased twist both showed an association with increased mutation. A small effect of A-type DNA stacking was found to be associated with mutated bases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00173153
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  • 3
    Electronic Resource
    Electronic Resource
    Transforming growth factor-β receptors: Role in physiology and disease (1996)
    Springer
    Journal of biomedical science 3 (1996), S. 143-158 
    Details
    ISSN: 1423-0127
    Keywords: Transforming growth factor-β ; Tumorigenesis ; Mutation ; Tumor suppressor gene ; Receptor ; Microsatellite instability ; Transcription
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Transforming growth factor-β (TGF-β) plays a pivotal role in numerous vital cellular activities, most significantly the regulation of cellular proliferation and differentiation and synthesis of extracellular matrix components. Its ubiquitous presence in different tissues and strict conservation of nucleotide sequence down through the most primitive vertebrate organisms underscore the essential nature of this family of molecules. The effects of TGF-β are mediated by a family of dedicated receptors, the TGF-β types I, II, and III receptors. It is now known that a wide variety of human pathology can be caused by aberrant expression and function of these receptors or their cognate ligands. The coding sequence of the human type II receptor appears to render it uniquely susceptible to DNA replication errors in the course of normal cell division. There are now substantial data suggesting that TGF-β type II receptor should be considered a tumor suppressor gene. High levels of mutation in the TGF-β type II receptor gene have been observed in a wide variety of primarily epithelial malignancies, including colon, gastric, and hepatic cancer. It appears likely that mutation of the TGF-β type II receptor gene represents a very critical step in the pathway of carcinogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02253095
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  • 4
    Electronic Resource
    Electronic Resource
    Role of mitochondria in human aging (1997)
    Springer
    Journal of biomedical science 4 (1997), S. 319-326 
    Details
    ISSN: 1423-0127
    Keywords: Oxidative damage ; Reactive oxygen species ; Mitochondria ; Mitochondrial DNA ; Mutation ; Aging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mitochondria are the major intracellular source and target sites of reactive oxygen species (ROS) that are continually generated as by-products of aerobic metabolism in animal and human cells. It has been demonstrated that mitochondrial respiratory function declines with age in various human tissues and that a defective respiratory chain results in enhanced production of ROS and free radicals in mitochondria. On the other hand, accumulating evidence now indicates that lipid peroxidation, protein modification and mitochondrial DNA (mtDNA) muutation are concurrently increased during aging. On the basis of these observations and the fact that the rate of cellular production of superoxide anions and hydrogen peroxide increases with age, it has recently been postulated that oxidative stress is a major contributory factor in the aging process. A causal relationship between oxidative modification and mutation of mtDNA, mitochondrial dysfunction and aging has emerged, although some details have remained unsolved. In this article, the role of mitochondria in the human aging process is reviewed on the basis of recent findings gathered from our and other laboratories.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02258357
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  • 5
    Electronic Resource
    Electronic Resource
    The structure of the llama heavy chain constant genes reveals a mechanism for heavy-chain antibody formation (1999)
    Springer
    Immunogenetics 50 (1999), S. 98-101 
    Details
    ISSN: 1432-1211
    Keywords: Key words Llama ; splice ; CH1 ; Antibody ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050694
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  • 6
    Electronic Resource
    Electronic Resource
    Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS) (1999)
    Springer
    Immunogenetics 49 (1999), S. 644-652 
    Details
    ISSN: 1432-1211
    Keywords: Key words HLA complex ; Immotile cilia syndrome ; Mutation ; Kinesin multigene family ; Human Chromosome 6
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The kinesin-related protein (HSET) gene belongs to the kinesin superfamily, the members of which are involved in cellular transport processes. The HSET gene product was previously characterized by partial cDNA sequencing. The gene is located on the short arm of human Chromosome 6 (6p21.3), at the centromeric end of the major histocompatibility complex. Here, we report the genomic structure of the complete HSET gene together with its flanking loci. Sequence analysis of the 40 kilobase (kb) cosmid clone containing the HSET gene also revealed the presence of several new genes not related to the kinesin superfamily. These include a 60S ribosomal protein L35A-like pseudogene (rPL35A-like) on the telomeric side and a polycomb-like gene (PHF1), a copper tolerance-like gene (CUTA1) and the 5' part of the synaptic ras-GTPase-activating protein (SynGAP) gene centromeric of HSET. In addition, a complete 60S ribosomal protein L12-like (rPL12L) gene in intron 3 of the HSET gene was identified which appears to have an open reading frame. The possible involvement of the HSET gene and a β-tubulin gene (TUBB) in the pathogenesis of immotile cilia syndrome (ICS) was studied by screening two unrelated ICS families with microtubular defects and suspected HLA linkage for mutations within the HSET gene and the TUBB gene. Four single base substitutions were detected in the HSET gene, and none in the TUBB gene. On the basis of these data, a role of the HSET and TUBB products in the pathogenesis of ICS in the two families is unlikely.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050660
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  • 7
    Electronic Resource
    Electronic Resource
    A tobacco mutant with a reduced cell number in embryo sacs (1997)
    Springer
    Sexual plant reproduction 10 (1997), S. 300-304 
    Details
    ISSN: 1432-2145
    Keywords: Key words Embryo sac ; Structural changes ; Mutation ; Nicotiana tabacum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The semisterile tobacco plant BG-141.4 was produced using both irradiation with X-rays and anther culture. The embryological investigation of the progeny of this plant following selfing (R1) revealed disturbances in the structure of the mature embryo sacs (ESs). The major abnormality was a decrease in cell number in the ESs. Other abnormalities included disturbances in the distribution of nuclei and in cell differentiation. The overall frequency of abnormal ESs in individual plants investigated varied from 8% to 83%, while the frequency of ESs with a reduced number of cells varied from 5% to 72%. Since the examination of three subsequent generations - R2, R3 and R4 - showed similar results, it is concluded that a mutation has been induced. Its main phenotypic manifestation is most likely related to its lacking one or two nuclear division(s) during the coenocytic stage of megagametogenesis. The penetrance of the mutation varies widely.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004970050102
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  • 8
    Electronic Resource
    Electronic Resource
    Phenotypic characterization of a tobacco mutant impaired in auxin polar transport (1997)
    Springer
    Plant cell reports 17 (1997), S. 32-38 
    Details
    ISSN: 1432-203X
    Keywords: Key words Tobacco ; Nicotiana tobacum ; Mutation ; Auxin transport ; Indole acetic acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A mutation in tobacco (Nicotiana tabacum L. cv `Xanthi') called lat (low auxin transport) that changes many morphogenic features throughout the life of the plant has been isolated. Abnormalities were observed in seed development, embryogenesis, cotyledon formation, leaf initiation and development, leaf veination pattern, and flower development. Selfed R2 lat mutant plants set between 60% and 90% fewer seeds than wild-type tobacco, and about 10% of these seeds did not germinate. Non-germinating seeds contained either abnormal embryos or abnormal endosperm tissues. There was no uniformity in the stage at which embryonic development ceased in the aberrant seeds. Seedlings often revealed abnormal and highly varied phenotypes after germination. In some of these cases, cotyledons were heart-shaped, fused, cup-shaped, or cylindrical. Leaf morphology ranged from normal to cup-shaped, and some leaves occasionally produced shoots from the leaf midvein. Flowers ranged from normal to compound with occasional fused floral parts or split petals. Stamens were sometimes petal-like. This unusual assortment of phenotypic changes suggested that the mutation might affect a basic component of plant metabolism. We found that polar transport of indole-3-acetic acid (IAA) was reduced to about 9–19% of the wild-type level in the inflorescence axis of selfed R2 lat mutants. In addition, supplementation of 1-naphthaleneacetic acid (NAA) to sterile media suppressed some of the abnormalities of the lat mutation so long as the plants grew there. Similarities in the phenotype of embryos, cotyledon and leaf shapes, translocation of labeled IAA, and response to applied NAA indicate that the lat locus of tobacco may be analogous to the pin locus of Arabidopsis, or produce a protein that functions in the same auxin-transport pathway.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002990050347
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  • 9
    Electronic Resource
    Electronic Resource
    Polymorphism around cog extends into adjacent structural genes (1999)
    Springer
    Current genetics 35 (1999), S. 631-637 
    Details
    ISSN: 1432-0983
    Keywords: Key words Recombinator ; Meiotic recombination ; Polymorphism ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The recombination hotspot cog overlaps a highly polymorphic 950-bp region of linkage group I in Neurospora crassa. The sequence of this region in the four strains, Lindegren 25a, Lindegren A, Emerson A and St. Lawrence 74A, each differs from the others by 1.4% or more. Comparison of the sequence of St. Lawrence 74A and Lindegren 25a each side of cog shows a high level of sequence heterology extending in both directions, including the coding sequences for his-3 and a putative gene lpl with homology to yeast lysophospholipase. The St. Lawrence 74A and Lindegren 25a sequences of his-3, centromere-proximal to cog, differ at 14 nucleotides, resulting in six amino-acid variations between the predicted protein sequences. In lpl, distal from cog, the sequences differ at 19 nucleotides leading to five amino-acid differences between the predicted proteins. Sequence heterology between St. Lawrence 74A and Lindegren 25a peaks either side of cog and then declines with distance. At the am locus on linkage group V, heterology is much less but peaks close to a weak recombination hotspot 5′ of the coding sequence. Uneven distribution of polymorphism along chromosomes has been explained by a hitch-hiking hypothesis in which selection for advantageous mutations causes local fixation of unselected variation. We suggest that new mutations arising from errors in recombination also contribute to the uneven distribution of polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002940050462
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  • 10
    Electronic Resource
    Electronic Resource
    The influence of a surface charge on the electronic and steric structure of a high potential iron-sulfur protein (1996)
    Springer
    JBIC 1 (1996), S. 257-263 
    Details
    ISSN: 1432-1327
    Keywords: Key words High-potential ; Iron-sulfur protein ; Redox ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract  The recombinant high-potential iron-sulfur protein (HiPIP) iso-I from Ectothiorhodospira halophila has been mutated at position 68. The αC of Val 68 is within a 0.6-nm sphere from the closest iron ion of the cluster. The valine residue has been replaced by a negatively charged glutamate residue (V68E) and by a positively charged lysine residue (V68K). With respect to the recombinant wild-type protein the reduction potentials of the V68E and V68K variants are –21±2 and +29±2 mV respectively (200 mM NaCl, pH 7, 25  °C). The solution structure of the V68E mutant was solved up to a pairwise RMSD of 66 pm for backbone atoms and 138 pm for all heavy atoms. The structure of the variant is very similar to that of recombinant wild type, indicating that the observed changes in reduction potentials are largely due to the effect of the introduced charges. It is proposed that the valence distribution within the oxidized iron-sulfur cluster is affected only slightly by the change in charge at position 68, but consistently with a simple electrostatic model.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007750050051
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