Search results for " Heterozygosity"
showing 10 items of 141 documents
Viability selection creates negative heterozygosity–fitness correlations in female Black Grouse Lyrurus tetrix
2017
There is widespread interest in the relationship between individual genetic diversity and fitness–related traits (heterozygosity–fitness correlations, HFC). Most studies found weak continuous increases of fitness with increasing heterozygosity while negative HFC have rarely been reported. Negative HFC are expected in cases of outbreeding depression and outbreeding is rare in natural populations; but negative HFC may also arise through viability selection acting on low heterozygosity individuals at an early stage producing a skew in the heterozygosity distribution leading to negative HFCs. We tested this idea using survival and clutch parameters (egg mass, egg volume, chick mass, clutch size…
S-genotype identification, genetic diversity and structure analysis of Italian sweet cherry germplasm
2017
In this study, 186 local sweet cherry accessions from 12 Italian regions, plus eight reference accessions, were analysed for the first time, using 13 microsatellite markers. Moreover, their S-incompatibility genotypes were identified with consensus primers for the S-RNase and SFB genes. A total of 161 unique genotypes were found; 18 groups of synonyms, along with the discovery of cases of misidentification. The average number of alleles per locus was 9.7, the mean expected heterozygosity (He) was 0.63, the mean observed heterozygosity (Ho) was 0.65 and the mean polymorphic information content (PIC) was 0.58. The structure analysis revealed the presence of six populations, which reflected in…
Overcompensation as a mechanism for maintaining polymorphism: egg-to-adult viability in Drosophila.
1990
Frequency-dependent selection may be accounted for, in ecological terms, by the differential effectiveness of alternative genotypes in exploiting limiting environmental resources. Differentiation in resource exploitation among genotypes implies in turn that a mix of genotypes may exploit more fully the resources than a genetically uniform population, a phenomenon called 'overcompensation' Experiments designed to test for overcompensation whow that highly polymorphic populations can support larger numbers of individuals per food unit than less polymorphic populations. This difference cannot be attributed to the level of individual heterozygosity, which is the same in both types of population…
Characterization of eight microsatellite loci for the sea urchin Meoma ventricosa (Spatangoida, Brissidae) through Next Generation Sequencing.
2015
Eight microsatellite loci were characterized for Meoma ventricosa (Lamarck, 1816), a burrowing sea urchin that can be afflicted by a bacterial disease causing localized mass mortality. For the analyzed population (29 individuals from St. Croix, US Virgin Islands), we observed 8.125 mean number of alleles, 0.640 mean observed heterozygosity (Ho) and 0.747 mean expected heterozygosity (He). Two loci showed significant deviations from Hardy-Weinberg equilibrium. Overall, the described loci were characterized by a moderately highlevel of polymorphism suggesting that these markers are useful for a population genetic studyin the Caribbean Sea.
Heterozygosity-fitness correlations in adult and juvenile Zenaida Dove, Zenaida aurita.
2013
10 pages; International audience; Understanding how fitness is related to genetic variation is of crucial importance in both evolutionary ecology and conservation biology. We report a study of heterozygosity-fitness correlations in a wild, noninbred population of Zenaida Doves, Zenaida aurita, based on a sample comprising 489 individuals (382 adults and 107 juveniles) typed at 13 microsatellite loci, resulting in a data set comprising 5793 genotypes. In both adults and juveniles, and irrespective of sex, no evidence was found for an effect of either multilocus or single-locus heterozygosity on traits potentially related to fitness such as foraging tactic, competitive ability, and fluctuatin…
First identification of polymorphic microsatellite markers in the Burgundy truffle, Tuber aestivum (Tuberaceae)
2014
SPEIPMCT2Pour cette revue, la version de l'éditeur est autorisée mais il y a un embargo d'un an (mentionné dans les Conditions générales : "On Institutional Repositories after 12 months").On peut donc mettre la PJ en "publique" mais il faut indiquer une date d'embargo (un an à partir de la date de publication). L'embargo sera levé automatiquement. Laissée lors du dépôt en workflow par prudence.; Premise of the study: Tuber aestivum, the most common truffle in Europe, plays an important role in the commercial truffle market. For the first time, microsatellite primers were developed to investigate polymorphism within this species. • Methods and Results: Using direct shotgun pyrosequencing, 15…
A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning
2020
ABSTRACT Background Diploid genome assembly is typically impeded by heterozygosity because it introduces errors when haplotypes are collapsed into a consensus sequence. Trio binning offers an innovative solution that exploits heterozygosity for assembly. Short, parental reads are used to assign parental origin to long reads from their F1 offspring before assembly, enabling complete haplotype resolution. Trio binning could therefore provide an effective strategy for assembling highly heterozygous genomes, which are traditionally problematic, such as insect genomes. This includes the wood tiger moth (Arctia plantaginis), which is an evolutionary study system for warning colour polymorphism. F…
Autosomal recessive hypercholesterolemia in Spain.
2017
Abstract Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel muta…
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
2019
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants have been reported. Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5 years, had a stop-gain and a missense variants, each inherited from one parent (p.(Gln442*) and p.(Asp1048Gly)). Both had learning disabilities, macrocephaly, dysmorphic features, skeletal anomalies, and subependymal heterot…
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
2019
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound…