Search results for " Variation"
showing 10 items of 1712 documents
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 ( …
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
2014
Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of …
A genome-wide view of Caenorhabditis elegans base-substitution mutation processes
2009
Knowledge of mutation processes is central to understanding virtually all evolutionary phenomena and the underlying nature of genetic disorders and cancers. However, the limitations of standard molecular mutation detection methods have historically precluded a genome-wide understanding of mutation rates and spectra in the nuclear genomes of multicellular organisms. We applied two high-throughput DNA sequencing technologies to identify and characterize hundreds of spontaneously arising base-substitution mutations in 10 Caenorhabditis elegans mutation-accumulation (MA)-line nuclear genomes. C. elegans mutation rate estimates were similar to previous calculations based on smaller numbers of m…
Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep
2019
Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep
Differential expression of SUC genes: A question of bases
1994
Non-coding nucleotide sequences located 5' upstream of the transcriptional start site play an essential role in gene expression as they contain binding sites for transcription and regulatory factors. The yeast SUC gene family is a useful model to study the influence that nucleotide exchanges within the promoter regions have on their expression, since (i) these genes, regulated by glucose repression, are differentially transcribed (invertase activity produced by distinct SUC genes may show variations of about 10-fold); and (ii) promoter sequences of SUC3, SUC4, SUC5 and SUC7 are more than 99% homologous, showing only six base exchanges among all of them. Comparison of these nucleotide exchan…
Genotype-Phenotype Analysis across 130,422 Genetic Variants Identifies Rspo3 as the First Genome-Wide Significant Modifier Gene in Primary Sclerosing…
2016
Background Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution of rare genetic variants including copy number variations (CNVs) to disease risk. In this study, we performed a multi-step genome-wide case-control analysis to interrogate the presence of disease-relevant rare copy number variants. Methods One thousand one hundred twenty-one German UC patients and 1770 healthy controls were initially screened for rare deletions and duplications employing SNP-array data. Quantitative PCR and high density custom array-CGH were used for validat…
The good-genes and compatible-genes benefits of mate choice.
2009
Genetic benefits from mate choice could be attained by choosing mates with high heritable quality ("good genes") and that are genetically compatible ("compatible genes"). We clarify the conceptual and empirical framework for estimating genetic benefits of mate choice, stressing that benefits must be measured from offspring fitness because there are no unequivocal surrogates for genetic quality of individuals or for compatibility of parents. We detail the relationship between genetic benefits and additive and nonadditive genetic variance in fitness, showing that the benefits have been overestimated in previous verbal treatments. We point out that additive benefits readily arise from nonaddit…
Multiple quantitative trait loci influence intra-specific variation in genital morphology between phylogenetically distinct lines of Drosophila monta…
2011
The evolution of animal genitalia has gained renewed interest because of their potential roles during sexual selection and early stages of species formation. Although central to understanding the evolutionary process, knowledge of the genetic basis of natural variation in genital morphology is limited to a very few species. Using an outbred cross between phylogenetically distinct lines of Drosophila montana, we characterized quantitative trait loci (QTLs) affecting the size and shape of the distiphallus, a prominent part of the male intromittent organ. Our microsatellite-based linkage analysis shows that intra-specific variation in the distiphallus involves several QTLs of largely additive …
Mitochondrial Dna Sequence Variation among Geographic Strains of Diamondback Moth (Lepidoptera: Plutellidae)
1997
We examined genetic variation among 6 geographic strains of diamondback moth, Plutella xylostella (L.), using 365 base pairs of the mitochondrial gene encoding cytochrome oxidase I (COI). No sequence variation was detected within 5 of the 6 strains; 1 strain contained 2 haplotypes that differed by a single base substitution (0.27%). Sequence differences between strains of diamondback moth from Hawaii, the Philippines, and Pennsylvania ranged from 0 to 0.82%. With one exception, base pair substitutions among strains resulted in synonymous codons and did not alter amino acid sequence. Genetic divergence between strains of diamondback moth was not correlated with geographic distances between t…