Search results for "Heterozygote"
showing 10 items of 240 documents
Genetic variation of European beech (Fagus sylvatica L.) along an altitudinal transect at mount Vogelsberg in Hesse, Germany
2000
Allelic and genotypic variation at 13 different enzyme loci of autochthonous European beech (Fagus sylvatica L.) was investigated in six 110-160-year-old stands growing at elevations between 150 and 660 m above sea level on the western slope of mount Vogelsberg in central Germany. The highest elevated population showed the highest number of effective alleles (Ne), the highest total heterozygosity (He) and the highest population differentiation deltaT. Also, the genotype SKD-A2A3 of shikimate dehydrogenase was significantly more frequent at the two highest elevated stands (P = 11%) than at the three lowest elevated stands (P = 1%). Further differences in genotype frequencies between 11 of 15…
Population structure and mitochondrial DNA gene flow in Old World populations of Drosophila subobscura
1992
An extensive survey of mitochondrial DNA (mtDNA) restriction polymorphism in 156 isofemale lines from 29 different geographic populations of Drosophila subobscura distributed throughout the Old World was carried out. Ten restriction enzymes were used, five of which revealed restriction site polymorphism. Of the 31 restriction sites detected, 13 were found to be polymorphic. Comparisons with the mtDNA map of Drosophila yakuba indicate that the variable sites are mainly concentrated in protein genes, especially those corresponding to the NADH complex. A total of 13 different haplotypes were observed, two of which (haplotypes I and II) are quite frequent and widely distributed throughout the p…
RCS1, a gene involved in controlling cell size inSaccharomyces cerevisiae
1991
Cloning and sequencing of RCS1, Saccharomyces cerevisiae gene whose product seems to be involved in timing the budding event of the cell cycle, is described. A haploid strain in which the 3'-terminal region of the chromosomal copy of the gene has been disrupted produces cells that are, on average, twice the size of cells of the parental strain. The critical size for budding in the mutant is similarly increased, and the disruption mutation is dominant in a diploid heterozygous for the RCS1 gene. Spores from this diploid have a reduced ability to germinate, the effect being more pronounced in the spores carrying the disrupted copy of RCS1. However, disrupted cells recover from alpha-factor tr…
Intraspecific and within-isolate sequence variation in the ITS rRNA gene region of Pythium mercuriale sp. nov. (Pythiaceae)
2008
Belbahri, Lassaad et al.
THE EFFECTS OF MATING SYSTEM AND GENETIC VARIABILITY ON SUSCEPTIBILITY TO TREMATODE PARASITES IN A FRESHWATER SNAIL, LYMNAEA STAGNALIS
2004
The amount and distribution of genetic variability in host populations can have significant effects on the outcome of host-parasite interactions. We studied the effect of mating system and genetic variability on susceptibility of Lymnaea stagnalis snails to trematode parasites. Mating system of snails from eight populations differing in the amount of genetic variability was manipulated, and self- and cross-fertilized offspring were exposed to naturally occurring trematode parasites in a controlled lake experiment. Susceptibility of snails varied between populations, but mating-system treatment did not have a significant effect. Heterozygosity of snails was negatively correlated with the pro…
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
1998
The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption of Lmxlb results in skeletal defects including hypoplas-tic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NFS). We show that LMX1B maps to the NFS locus and that three independent NFS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature terminatio…
A comparative analysis of genetic variation in rootstocks and scions of old olive trees – a window into the history of olive cultivation practices an…
2014
Background Past clonal propagation of olive trees is intimately linked to grafting. However, evidence on grafting in ancient trees is scarce, and not much is known about the source of plant material used for rootstocks. Here, the Simple Sequence Repeat (SSR) marker technique was used to study genetic diversity of rootstocks and scions in ancient olive trees from the Levant and its implications for past cultivation of olives. Leaf samples were collected from tree canopies (scions) and shoots growing from the trunk base (suckers). A total of 310 trees were sampled in 32 groves and analyzed with 14 SSR markers. Results In 82.7% of the trees in which both scion and suckers could be genotyped, t…
p16INK4A (CDKN2A) gene deletion is a frequent genetic event in synovial sarcomas.
2006
We assessed the frequency of genomic deletion of p16 INK4A (CDKN2A) in synovial sarcomas (SSs) and its possible association with immunoexpression of p16 and cyclin D1 and the Ki-67 proliferation index using dualcolor fluorescence in situ hybridization (FISH) on tissue microarray sections of 41 histologically and molecularly confirmed SSs. A heterozygous p16 INK4A gene deletion was identified in 28 (74%) of 38 cases, with 25 (89%) of them showing abnormal p16 protein expression (20 negative and 5 heterogeneous). Of 25 cases, 19 (76%) exhibiting increased cyclin D1 expression also demonstrated heterozygous p16 INK4A deletion. No significant association was observed between p16 INK4A deletion …
Analysis of the (H-2b x H-2k)F1Restricted Response to Insulin.
1984
The aim of these studies was to characterize the (H-2b X H-2k)F1-unique restriction element(s) responsible for presentation of bovine insulin (BI) to a long-term cultured T-cell line (BK-BI-1.2). (B10.BR X bm12)F1 spleen cells, which express a normal Ab alpha Ak beta molecule but a mutated Ak alpha Abm12 beta product on their cell surface, were perfectly able to act as BI-presenting cells. Antibody inhibition experiments with antibodies directed at I-Ak products revealed that monoclonal antibody 10-2.16, which reacts with the Ak beta polypeptide chain, abrogated BI-directed T-cell proliferation, whereas antibody H116-32.R5 with specificity for the Ak alpha chain was not inhibitory. These re…
Association Between Exercise and Pubertal BMD Is Modulated by Estrogen Receptor α Genotype
2003
Genetic and environmental factors contribute to bone mass, but the ways they interact remain poorly understood. This study of 245 pre- and early pubertal girls found that the PvuII polymorphism in the ER- gene modulates the effect of exercise on BMD at loaded bone sites. Introduction: Impaired achievement of bone mass at puberty is an important risk factor for the development of osteoporosis in later life. Genetic, as well as environmental, factors contribute to bone mass, but the ways they interact with each other remain poorly understood. Materials and Methods: We investigated the interaction between a PvuII polymorphism at the ER- gene and physical activity (PA) on the modulation of bone…