Search results for "VARIATION"
showing 10 items of 2124 documents
Phylogeography of the Eurasian Willow Tit (Parus montanus) based on DNA sequences of the mitochondrial cytochrome b gene.
2002
The phylogeographic relationships of the trans-Palearctic Willow Tit assemblage were studied by obtaining sequence data from the mitochondrial cytochrome b gene from 34 specimens representing nine subspecies from across the species range. Four distinct genetic groups were identified: Parus montanus weigoldicus, P. m. affinis, P. m. songarus, and a clade containing six Eurasian subspecies (ssp. baicalensis, borealis, montanus, restrictus, rhenanus, and sachalinensis). P. m. weigoldicus, P. m. affinis, and P. m. songarus were reciprocally monophyletic and separated from each other and other subspecies by uncorrected genetic distances between 1.9 and 5.8%. The remaining six subspecies were clo…
Interplay between RNA structure and protein evolution in HIV-1.
2010
The genomes of many RNA viruses contain abundant secondary structures that have been shown to be important for understanding the evolution of noncoding regions and synonymous sites. However, the consequences for protein evolution are less well understood. Recently, the secondary structure of the HIV-1 RNA genome has been experimentally determined. Using this information, here we show that RNA structure and proteins do not evolve independently. A negative correlation exists between the extent of base pairing in the genomic RNA and amino acid variability. Relaxed RNA structures may favor the accumulation of genetic variation in proteins and, conversely, sequence changes driven by positive sel…
Molecular diversity at the self-incompatibility locus is a salient feature in natural populations of wild tomato (Lycopersicon peruvianum)
1993
A cDNA encoding a stylar protein was cloned from flowers of self-incompatible wild tomato (Lycopersicon peruvianum). The corresponding gene was mapped to the S locus, which is responsible for self-incompatibility. The nucleotide sequence was determined for this allele, and compared to other S-related sequences in the Solanaceae. The S allele was used to probe DNA from 92 plants comprising 10 natural populations of Lycopersicon peruvianum. Hybridization was conducted under moderate and permissive stringencies in order to detect homologous sequences. Few alleles were detected, even under permissive conditions, underscoring the great sequence diversity at this locus. Those alleles that were de…
Karyotypic diversity among Blastocystis hominis isolates
1997
Fifteen Blastocystis hominis strains, 13 axenic and 2 monoxenic, have been included in the present study. The chromosomal pattern was analyzed by the contour-clamped homogeneous electric-field (CHEF) system. The number of chromosomes detected ranged between 9 and 13, with sizes from 2200 kbp to 260 kbp. Eleven karyotypic profiles, with a common pattern constituted by 8 chromosomes of 2200, 1280, 890, 840, 700, 650, 540 and 260 kbp, were observed. The Jaccard index demonstrated that the similarity between isolates ranged from 0.5714 to 1. The different isolates were clustered in 3 karyotypes (A: 8 isolates; B: 6 isolates and C: 1 isolate). All isolates grouped in karyotype A presented a char…
Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.
2010
We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to the genes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1- 4]. We first applied a two-step enrichment strategy for autism-specific genes. We fished out from the four mentioned studies a list of 2928 genes overall overlapping 328 CNVs in patients and we first selected a sub-group of 2044 genes after excluding those ones that are also involved in CNVs reported in the Database of Genomic Variants (enrichment step 1). We then selected from the step 1-enriched list a sub-group of 514 genes each of which was found to be deleted or dupli…
Mitochondrial DNA evolution in experimental populations of Drosophila subobscura.
1990
When two mitochondrial DNA (mtDNA) haplotypes of Drosophila subobscura compete in experimental populations with discrete generations, one or the other approaches fixation, depending on the nuclear background with which they are associated. The approach to fixation, however, is strongly dependent on the effective number of females in the population, Nf. Whether or not the ultimate fate of a given mtDNA haplotype is determined by random genetic drift depends on Nf as well as on the relative fitnesses. Our experimental results show that the mtDNA polymorphisms observed in natural populations are affected by interactions among nuclear polymorphisms, random genetic drift, and direct selection on…
Analysis of extended genomic rearrangements in oncological research.
2007
Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…
Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes
2021
Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction o…
Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (<i>ASIP)</i> Gene in Goat Breeds with Different Coat Colors
2009
In goats, classical genetic studies reported a large number of alleles at the <i>Agouti</i> locus with effects on coat color and pattern distribution. From these early studies, the dominant <i>A</i><sup>Wt</sup> (white/tan) allele was suggested to cause the white color of the Saanen breed. Here, we sequenced the coding region of the goat <i>ASIP</i> gene in 6 goat breeds (Girgentana, Maltese, Derivata di Siria, Murciano-Granadina, Camosciata delle Alpi, and Saanen), with different coat colors and patterns. Five single nucleotide polymorphisms (SNPs) were identified, 3 of which caused missense mutations in conserved positions of the cysteine-ri…
The Stock Genetic Structure of Two Sparidae Species, Diplodus vulgaris and Lithognathus mormyrus, in the Mediterranean Sea.
2003
Abstract Polyacrilamide gel electrophoresis (PAGE) of allozymes was used to investigate the intraspecies genetic variation and the genetic stock structure of Diplodus vulgaris and Lithognathus mormyrus captured from eight localities in the Mediterranean Sea. Twenty-two and 20 putative enzyme-coding loci were examined, respectively, in D. vulgaris and L. mormyrus . Polymorphic loci at the 95% level were used to assess the allozyme variability in D. vulgaris ( AAT-2 ∗ , EST-1 ∗ , GLDH ∗ , PEPB-2 ∗ , PGI-2 ∗ , PGM ∗ , SDH ∗ ) and L. mormyrus ( AAT-2 ∗ , EST-1 ∗ , GLDH ∗ , MDH-2 ∗ , PGI-2 ∗ , PGM ∗ ). The proportion of polymorphic loci in both species ranged from 0.31 ( D. vulgaris ) to 0.30 ( …