scholarly journals The pattern of neutral molecular variation under the background selection model.

Genetics ◽  
1995 ◽  
Vol 141 (4) ◽  
pp. 1619-1632 ◽  
Author(s):  
D Charlesworth ◽  
B Charlesworth ◽  
M T Morgan
Keyword(s):  
Genetic Diversity ◽  
Genomic Region ◽  
Stochastic Simulations ◽  
Background Selection ◽  
Effective Population ◽  
Frequency Spectra ◽  
Low Genetic Diversity ◽  
Neutral Locus ◽  
Large Populations ◽  
Site Diversity

Abstract Stochastic simulations of the infinite sites model were used to study the behavior of genetic diversity at a neutral locus in a genomic region without recombination, but subject to selection against deleterious alleles maintained by recurrent mutation (background selection). In large populations, the effect of background selection on the number of segregating sites approaches the effect on nucleotide site diversity, i.e., the reduction in genetic variability caused by background selection resembles that caused by a simple reduction in effective population size. We examined, by coalescence-based methods, the power of several tests for the departure from neutral expectation of the frequency spectra of alleles in samples from randomly mating populations (Tajima's, Fu and Li's, and Watterson's tests). All of the tests have low power unless the selection against mutant alleles is extremely weak. In Drosophila, significant Tajima's tests are usually not obtained with empirical data sets from loci in genomic regions with restricted recombination frequencies and that exhibit low genetic diversity. This is consistent with the operation of background selection as opposed to selective sweeps. It remains to be decided whether background selection is sufficient to explain the observed extent of reduction in diversity in regions of restricted recombination.

scholarly journals Resolving the conflict between associative overdominance and background selection

2016 ◽  
Author(s):  
Lei Zhao ◽  
Brian Charlesworth
Keyword(s):  
Selective Advantage ◽  
Heterozygote Advantage ◽  
Background Selection ◽  
Effective Population ◽  
Infinite Population ◽  
Recessive Mutations ◽  
Neutral Locus ◽  
Large Populations ◽  
Marker Loci ◽  
Shed Light

In small populations, genetic linkage between a polymorphic neutral locus and loci subject to selection, either against partially recessive mutations or in favor of heterozygotes, may result in an apparent selective advantage to heterozygotes at the neutral locus (associative overdominance), and a retardation of the rate of loss of variability by genetic drift at this locus. In large populations, selection against deleterious mutations has previously been shown to reduce variability at linked neutral loci (background selection). We describe analytical, numerical and simulation studies that shed light on the conditions under which retardation versus acceleration of loss of variability occurs at a neutral locus linked to a locus under selection. We consider a finite, randomly mating population initiated from an infinite population in equilibrium at a locus under selection, with no linkage disequilibrium. With mutation and selection, retardation only occurs when S, the product of twice the effective population size and the selection coefficient, is of order one. With S >> 1, background selection always causes an acceleration of loss of variability. Apparent heterozygote advantage at the neutral locus is, however, always observed when mutations are partially recessive, even if there is an accelerated rate of loss of variability. With heterozygote advantage at the selected locus, there is nearly always a retardation of loss of variability. The results shed light on experiments on the loss of variability at marker loci in laboratory populations, and on the results of computer simulations of the effects of multiple selected loci on neutral variability.

scholarly journals The effect of background selection at a single locus on weakly selected, partially linked variants

1999 ◽  
Vol 73 (2) ◽  
pp. 133-146 ◽  
Author(s):  
WOLFGANG STEPHAN ◽  
BRIAN CHARLESWORTH ◽  
GILEAN McVEAN
Keyword(s):  
Sampling Method ◽  
Genetic Parameters ◽  
Single Locus ◽  
Background Selection ◽  
Effective Population ◽  
Weak Selection ◽  
Potential Significance ◽  
Neutral Locus ◽  
Site Diversity ◽  
Rates Of Molecular Evolution

Previous work has shown that genetic diversity at a neutral locus is affected by background selection due to recurrent deleterious mutations as though the effective population size Ne is reduced by a factor that is calculable from genetic parameters such as mutation rates, selection coefficients, and the rates of recombination between sites subject to selection and the neutral locus. Given that silent changes at third coding positions are often subject to weak selection pressures, it is important to develop similar quantitative predictions of the effects of background selection on variation and evolution at weakly selected sites. A diffusion approximation is derived that describes the effects of the presence of a single locus subject to mutation and strongly deleterious selection on variation and evolution at a partially linked, weakly selected locus. The results are validated by computer simulations using the Ito pseudo-sampling method. We show that both nucleotide site diversity and rates of molecular evolution at a weakly selected locus are affected by background selection as though Ne is reduced in the same way as for a neutral locus. Heuristic arguments are presented as to why the change in Ne for the neutral case also applies with weak selection. As in the case of a neutral locus, the number of segregating sites in the population is poorly predicted from the change in Ne. The potential significance of the results in relation to the effects of recombinational environment on molecular variation and evolution is discussed.

scholarly journals Low genetic diversity in the endangered Taxus yunnanensis following a population bottleneck, a low effective population size and increased inbreeding

2016 ◽  
Vol 65 (1) ◽  
pp. 59-66 ◽  
Author(s):  
Y. C. Miao ◽  
Z. J. Zhang ◽  
J. R. Su
Keyword(s):  
Genetic Diversity ◽  
Habitat Fragmentation ◽  
Population Size ◽  
Effective Population Size ◽  
Spatial Genetic Structure ◽  
Population Bottleneck ◽  
Effective Population ◽  
Taxus Yunnanensis ◽  
Low Genetic Diversity ◽  
Two Populations

Abstract Taxus yunnanensis, which is an endangered tree that is considered valuable because it contains the effective natural anticancer metabolite taxol and heteropolysaccharides, has long suffered from severe habitat fragmentation. In this study, the levels of genetic diversity in two populations of 136 individuals were analyzed based on eleven polymorphic microsatellite loci. Our results suggested that these two populations were characterized by low genetic diversity (NE = 2.303/2.557; HO = 0.168/0.142; HE = 0.453/0.517), a population bottleneck, a low effective population size (Ne = 7/9), a high level of inbreeding (FIS = 0.596/0.702), and a weak, but significant spatial genetic structure (Sp = 0.001, b = −0.001*). Habitat fragmentation, seed shadow overlap and limited seed and pollen dispersal and potential selfing may have contributed to the observed gene tic structure. The results of the present study will enable development of practical conservation measures to effectively conserve the valuable genetic resources of this endangered plant.

scholarly journals Unexpected heterozygosity in an island mouflon population founded by a single pair of individuals

2006 ◽  
Vol 274 (1609) ◽  
pp. 527-533 ◽  
Author(s):  
Renaud Kaeuffer ◽  
David W Coltman ◽  
Jean-Louis Chapuis ◽  
Dominique Pontier ◽  
Denis Réale
Keyword(s):  
Genetic Diversity ◽  
Wild Population ◽  
Ovis Aries ◽  
Stochastic Simulations ◽  
Single Pair ◽  
Small Populations ◽  
Short Period ◽  
Large Populations ◽  
History Of ◽  
Over Time

In population and conservation genetics, there is an overwhelming body of evidence that genetic diversity is lost over time in small populations. This idea has been supported by comparative studies showing that small populations have lower diversity than large populations. However, longitudinal studies reporting a decline in genetic diversity throughout the whole history of a given wild population are much less common. Here, we analysed changes in heterozygosity over time in an insular mouflon ( Ovis aries ) population founded by two individuals in 1957 and located on one of the most isolated locations in the world: the Kerguelen Sub-Antarctic archipelago. Heterozygosity measured using 25 microsatellite markers has actually increased over 46 years since the introduction, and exceeds the range predicted by neutral genetic models and stochastic simulations. Given the complete isolation of the population and the short period of time since the introduction, changes in genetic variation cannot be attributed to mutation or migration. Several lines of evidence suggest that the increase in heterozygosity with time may be attributable to selection. This study shows the importance of longitudinal genetic surveys for understanding the mechanisms that regulate genetic diversity in wild populations.

scholarly journals Genetic Diversity of Indigenous Pigs from South China Area Revealed by SNP Array

Animals ◽  
2019 ◽  
Vol 9 (6) ◽  
pp. 361 ◽  
Author(s):  
Shuqi Diao ◽  
Shuwen Huang ◽  
Zhiting Xu ◽  
Shaopan Ye ◽  
Xiaolong Yuan ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Population Size ◽  
Effective Population Size ◽  
Conservation Status ◽  
Snp Array ◽  
Size Analysis ◽  
Selection Signatures ◽  
Effective Population ◽  
Low Genetic Diversity ◽  
Indigenous Pigs

To investigate the genetic diversity, population structure, extent of linkage disequilibrium (LD), effective population size (Ne), and selection signatures in indigenous pigs from Guangdong and Guangxi in China, 226 pigs belonging to ten diverse populations were genotyped using single nucleotide polymorphism (SNP) chips. The genetic divergence between Chinese and Western pigs was determined based on the SNP chip data. Low genetic diversity of Dahuabai (DHB), Luchuan (LC), Lantang (LT), and Meihua (MH) pigs, and introgression of Western pigs into Longlin (LL), MH, and Yuedonghei (YDH) pigs were detected. Analysis of the extent of LD showed that indigenous pigs had low LD when pairwise SNP distance was short and high LD when pairwise SNP distance was long. Effective population size analysis showed a rapid decrease for Chinese indigenous pigs, and some pig populations had a relatively small Ne. This result indicated the loss of genetic diversity in indigenous pigs, and introgression from Western commercial pigs. Selection signatures detected in this study overlapped with meat quality traits, such as drip loss, intramuscular fat content, meat color b*, and average backfat thickness. Our study deepened understanding of the conservation status and domestication of Chinese indigenous pigs.

Nuclear and cytoplasmic genetic diversity reveals long-term population decline in Abies semenovii, an endemic fir of central Asia

2012 ◽  
Vol 42 (12) ◽  
pp. 2142-2152 ◽  
Author(s):  
Svetlana A. Semerikova ◽  
Martin Lascoux ◽  
Vladimir L. Semerikov
Keyword(s):  
Genetic Diversity ◽  
Central Asia ◽  
Population Decline ◽  
Population Expansion ◽  
Nuclear Marker ◽  
Effective Population ◽  
Species Status ◽  
Siberian Fir ◽  
Low Genetic Diversity

The genus Abies is one of the largest conifer genera and many of the marginal species remain poorly characterized. Abies semenovii B. Fedtsch. is a rare mountain fir species from central Asia, and its species status is still disputed. We used both nuclear (allozymes and AFLP) and chloroplastic (cpSSR) markers to show that A. semenovii deserves to be considered as a species and that its low genetic diversity justifies more a proactive conservation policy. First, A. semenovii was significantly differentiated from the Siberian fir Abies sibirica Ledeb. and we did not detect gene flow between the two species. Second, A. semenovii has a very low nuclear genetic diversity, suggesting a prolonged restricted effective population size. Abies semenovii had low cpSSR diversity too but the identification of seven closely related haplotypes suggests that these mutations accumulated recently during a phase of population expansion. This agrees well with the palynological record and is in contrast with the situation observed in another rare Eurasian fir endemic to Kamchatka, Abies gracilis Kom., which was devoid of variation in cpSSRs but that also had a more substantial nuclear marker diversity than A. semenovii, thereby suggesting a more recent but less severe population bottleneck.

scholarly journals The effects of local selection, balanced polymorphism and background selection on equilibrium patterns of genetic diversity in subdivided populations

1997 ◽  
Vol 70 (2) ◽  
pp. 155-174 ◽  
Author(s):  
BRIAN CHARLESWORTH ◽  
MAGNUS NORDBORG ◽  
DEBORAH CHARLESWORTH
Keyword(s):  
Genetic Diversity ◽  
Linkage Disequilibrium ◽  
Balancing Selection ◽  
Polymorphic Locus ◽  
Stochastic Simulations ◽  
Population Subdivision ◽  
Background Selection ◽  
Balanced Polymorphism ◽  
Local Selection ◽  
Species Population

Levels of neutral genetic diversity in populations subdivided into two demes were studied by multi-locus stochastic simulations. The model includes deleterious mutations at loci throughout the genome, causing ‘background selection’, as well as a single locus at which a polymorphism is maintained, either by frequency-dependent selection or by local selective differences. These balanced polymorphisms induce long coalescence times at linked neutral loci, so that sequence diversity at these loci is enhanced at statistical equilibrium. We study how equilibrium neutral diversity levels are affected by the degree of population subdivision, the presence or absence of background selection, and the level of inbreeding of the population. The simulation results are compared with approximate analytical formulae, assuming the infinite sites neutral model. We discuss how balancing selection can be distinguished from local selection, by determining whether peaks of diversity in the region of the polymorphic locus are seen within or between demes. The width of such diversity peaks is shown to depend on the total species population size, rather than local deme sizes. We show that, with population subdivision, local selection enhances between-deme diversity even at neutral sites distant from the polymorphic locus, producing higher FST values than with no selection; very high values can be generated at sites close to a selected locus. Background selection also increases FST, mainly because of decreased diversity within populations, which implies that its effects may be distinguishable from those of local selection. Both effects are stronger in selfing than outcrossing populations. Linkage disequilibrium between neutral sites is generated by both balancing and local selection, especially in selfing populations, because of linkage disequilibrium between the neutral sites and the selectively maintained alleles. We discuss how these theoretical results can be related to data on genetic diversity within and between local populations of a species.

scholarly journals Low genetic variation is associated with low mutation rate in the giant duckweed

2018 ◽  
Author(s):  
Shuqing Xu ◽  
Jessica Stapley ◽  
Saskia Gablenz ◽  
Justin Boyer ◽  
Klaus J. Appenroth ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Population Size ◽  
Mutation Rate ◽  
Spontaneous Mutation ◽  
Effective Population ◽  
Spontaneous Mutation Rate ◽  
Low Genetic Diversity ◽  
Genome Wide ◽  
Census Population Size

AbstractMutation rate and effective population size (Ne) jointly determine intraspecific genetic diversity, but the role of mutation rate is often ignored. We investigate genetic diversity, spontaneous mutation rate andNein the giant duckweed (Spirodela polyrhiza). Despite its large census population size, whole-genome sequencing of 68 globally sampled individuals revealed extremely low within-species genetic diversity. Assessed under natural conditions, the genome-wide spontaneous mutation rate is at least seven times lower than estimates made for other multicellular eukaryotes, whereasNeis large. These results demonstrate that low genetic diversity can be associated with large-Nespecies, where selection can reduce mutation rates to very low levels, and accurate estimates of mutation rate can help to explain seemingly counterintuitive patterns of genome-wide variation.One Sentence SummaryThe low-down on a tiny plant: extremely low genetic diversity in an aquatic plant is associated with its exceptionally low mutation rate.

Already at the bottom? Demographic declines are unlikely further to undermine genetic diversity of a large Arctic ungulate: muskox, Ovibos moschatus (Artiodactyla: Bovidae)

2019 ◽  
Vol 129 (2) ◽  
pp. 459-469
Author(s):  
Erin Prewer ◽  
Susan Kutz ◽  
Lisa Marie Leclerc ◽  
Christopher J Kyle
Keyword(s):  
Genetic Diversity ◽  
Genetic Variation ◽  
Allelic Richness ◽  
Evolutionary Potential ◽  
Ovibos Moschatus ◽  
Low Genetic Diversity ◽  
Expected Heterozygosity ◽  
Large Populations ◽  
Victoria Island ◽  
Demographic Patterns

Abstract Low genetic diversity is associated with low fitness and evolutionary potential, yet the demographic and life-history traits of some species contribute to low genetic diversity, without empirical evidence of negative impacts on fitness. Modelling past and future trajectories of genetic diversity under different demographic scenarios can provide insight into how genetic variation might impact population fitness. The muskox is an Arctic species that has undergone multiple population bottlenecks and, although populations have rebounded repeatedly, two large populations have recently declined by > 50%. It is unclear how these demographic patterns influence muskox genetic diversity and fitness. We compared the genetic diversity of Canadian muskox populations undergoing opposing population trends. Genotyping 84 mainland and 244 Victoria Island individuals at ten microsatellite loci revealed low genetic variation (Victoria Island, mean allelic richness 1.66, expected heterozygosity 0.16; mainland, mean allelic richness 2.58, expected heterozygosity 0.41), with no evidence of further reductions in diversity subsequent to recent demographic declines. Bayesian modelling showed that a 1900s bottleneck contributed to the lack of diversity in contemporary populations, and forward-in-time simulations suggested little effect on genetic diversity over the next 100 years. Muskoxen might have reached a genetic diversity minimum, and additional research will be needed to determine their capacity to adapt to rapid changes in selective pressures in a rapidly changing Arctic.

scholarly journals Conservation concerns associated with low genetic diversity for K’gari–Fraser Island dingoes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
G. C. Conroy ◽  
R. W. Lamont ◽  
L. Bridges ◽  
D. Stephens ◽  
A. Wardell-Johnson ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Genetic Factors ◽  
Conservation Management ◽  
Future Research ◽  
Effective Population ◽  
Tissue Samples ◽  
Island Populations ◽  
Low Genetic Diversity ◽  
Sample Set

AbstractThe dingo population on world heritage-listed K’gari-Fraser Island (K’gari) is amongst the most well-known in Australia. However, an absence of population genetic data limits capacity for informed conservation management. We used 9 microsatellite loci to compare the levels of genetic diversity and genetic structure of 175 K’gari dingo tissue samples with 264 samples from adjacent mainland regions. Our results demonstrated that the K'gari population has significantly lower genetic diversity than mainland dingoes (AR, HE, PAR; p < 0.05) with a fourfold reduction in effective population size (Ne = 25.7 vs 103.8). There is also strong evidence of genetic differentiation between the island and mainland populations. These results are in accordance with genetic theory for small, isolated, island populations, and most likely the result of low initial diversity and founder effects such as bottlenecks leading to decreased diversity and drift. As the first study to incorporate a large sample set of K’gari dingoes, this provides invaluable baseline data for future research, which should incorporate genetic and demographic monitoring to ensure long-term persistence. Given that human-associated activities will continue to result in dingo mortality, it is critical that genetic factors are considered in conservation management decisions to avoid deleterious consequences for this iconic dingo population.

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