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Small effective population size and genetic homogeneity in the Val Borbera isolate.

ABSTRACT: Population isolates are a valuable resource for medical genetics because of their reduced genetic, phenotypic and environmental heterogeneity. Further, extended linkage disequilibrium (LD) allows accurate haplotyping and imputation. In this study, we use nuclear and mitochondrial DNA data to determine to what extent the geographically isolated population of the Val Borbera valley also presents features of genetic isolation. We performed a comparative analysis of population structure and estimated effective population size exploiting LD data. We also evaluated haplotype sharing through the analysis of segments of autozygosity. Our findings reveal that the valley has features characteristic of a genetic isolate, including reduced genetic heterogeneity and reduced effective population size. We show that this population has been subject to prolonged genetic drift and thus we expect many variants that are rare in the general population to reach significant frequency values in the valley, making this population suitable for the identification of rare variants underlying complex traits.

SUBMITTER: Colonna V

PROVIDER: S-EPMC3522197 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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Small effective population size and genetic homogeneity in the Val Borbera isolate.

Colonna Vincenza V Pistis Giorgio G Bomba Lorenzo L Mona Stefano S Matullo Giuseppe G Boano Rosa R Sala Cinzia C Viganò Fiammetta F Torroni Antonio A Achilli Alessandro A Hooshiar Kashani Baharak B Malerba Giovanni G Gambaro Giovanni G Soranzo Nicole N Toniolo Daniela D

European journal of human genetics : EJHG 20120620 1

Population isolates are a valuable resource for medical genetics because of their reduced genetic, phenotypic and environmental heterogeneity. Further, extended linkage disequilibrium (LD) allows accurate haplotyping and imputation. In this study, we use nuclear and mitochondrial DNA data to determine to what extent the geographically isolated population of the Val Borbera valley also presents features of genetic isolation. We performed a comparative analysis of population structure and estimate ...[more]

PMID: 22713810

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Project description:Eradication or local extinction of the human parasite Schistosoma mansoni is a goal for many control programs. Population genetic analyses are helping to evaluate and guide these efforts, yet what to sample, how to sample and how densely to sample is not well established. We determined the S. mansoni allele frequency profile of nearly all infected inhabitants in two small Brazilian communities and created sub-samples representing 5-50% of all detected human infections (infrapopulations). Samples were selected at random with replacement, and each size class was replicated 100 times. Mean pairwise differentiation for all infrapopulations (Di) and the variance effective population size (Ne) were calculated for each sample. Prior to community-wide treatment, the true mean Di was moderate (0.095-0.123) and Ne large (>30,000). Most samples of <50% of those infected produced estimates outside of 5% of the true value. For estimates within 10%, sample sizes of >15% of all infrapopulations were required. At the 3 year follow-up after treatment, the Di increased and Ne was reduced by >15 fold. At this time sampling of >30-45% was needed to achieve the same accuracy. Following a second treatment and 4 years from baseline, the Di further increased and Ne decreased with little change in the sampling effort required. Extensive sampling is required for accurate estimates of these important population parameters. Characteristics such as population census size, infection prevalence, the community's treatment history and the degree of infrapopulation differentiation should be taken into account. The intensity of infection was weakly correlated with the ability of a single infrapopulation to represent the component population (Dic), indicating a tendency toward random acquisition of parasite genotypes. This also suggests that targeted sampling from those most heavily infected will better represent the genetic diversity of the whole community than a random sample of infrapopulations.

Project description:Effective population size, a central concept in conservation biology, is now routinely estimated from genetic surveys and can also be theoretically predicted from demographic, life-history, and mating-system data. By evaluating the consistency of theoretical predictions with empirically estimated effective size, insights can be gained regarding life-history characteristics and the relative impact of different life-history traits on genetic drift. These insights can be used to design and inform management strategies aimed at increasing effective population size. We demonstrated this approach by addressing the conservation of a reintroduced population of Asiatic wild ass (Equus hemionus). We estimated the variance effective size (Nev ) from genetic data (N ev =24.3) and formulated predictions for the impacts on Nev of demography, polygyny, female variance in lifetime reproductive success (RS), and heritability of female RS. By contrasting the genetic estimation with theoretical predictions, we found that polygyny was the strongest factor affecting genetic drift because only when accounting for polygyny were predictions consistent with the genetically measured Nev . The comparison of effective-size estimation and predictions indicated that 10.6% of the males mated per generation when heritability of female RS was unaccounted for (polygyny responsible for 81% decrease in Nev ) and 19.5% mated when female RS was accounted for (polygyny responsible for 67% decrease in Nev ). Heritability of female RS also affected Nev ; hf2=0.91 (heritability responsible for 41% decrease in Nev ). The low effective size is of concern, and we suggest that management actions focus on factors identified as strongly affecting Nev, namely, increasing the availability of artificial water sources to increase number of dominant males contributing to the gene pool. This approach, evaluating life-history hypotheses in light of their impact on effective population size, and contrasting predictions with genetic measurements, is a general, applicable strategy that can be used to inform conservation practice.

Dataset Information

Small effective population size and genetic homogeneity in the Val Borbera isolate.

Publications

Small effective population size and genetic homogeneity in the Val Borbera isolate.

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