scholarly journals Differences in local population history at the finest level: the case of the Estonian population

2020 ◽  
Vol 28 (11) ◽  
pp. 1580-1591 ◽  
Author(s):  
Vasili Pankratov ◽  
Francesco Montinaro ◽  
Alena Kushniarevich ◽  
Georgi Hudjashov ◽  
Flora Jay ◽  
...  
Keyword(s):  
Natural Selection ◽  
Genetic Structure ◽  
Population Size ◽  
Effective Population Size ◽  
Local Population ◽  
Population History ◽  
Human Populations ◽  
Effective Population ◽  
The Impact ◽  
Estonian Population

Abstract Several recent studies detected fine-scale genetic structure in human populations. Hence, groups conventionally treated as single populations harbour significant variation in terms of allele frequencies and patterns of haplotype sharing. It has been shown that these findings should be considered when performing studies of genetic associations and natural selection, especially when dealing with polygenic phenotypes. However, there is little understanding of the practical effects of such genetic structure on demography reconstructions and selection scans when focusing on recent population history. Here we tested the impact of population structure on such inferences using high-coverage (~30×) genome sequences of 2305 Estonians. We show that different regions of Estonia differ in both effective population size dynamics and signatures of natural selection. By analyzing identity-by-descent segments we also reveal that some Estonian regions exhibit evidence of a bottleneck 10–15 generations ago reflecting sequential episodes of wars, plague and famine, although this signal is virtually undetected when treating Estonia as a single population. Besides that, we provide a framework for relating effective population size estimated from genetic data to actual census size and validate it on the Estonian population. This approach may be widely used both to cross-check estimates based on historical sources as well as to get insight into times and/or regions with no other information available. Our results suggest that the history of human populations within the last few millennia can be highly region specific and cannot be properly studied without taking local genetic structure into account.

scholarly journals Introgression makes waves in inferred histories of effective population size

2017 ◽  
Author(s):  
John Hawks
Keyword(s):  
Gene Flow ◽  
Population Size ◽  
Effective Population Size ◽  
Population History ◽  
Human Populations ◽  
Effective Population ◽  
History Of ◽  
Or Gene ◽  
Time Of Origin ◽  
Past Population

AbstractHuman populations have a complex history of introgression and of changing population size. Human genetic variation has been affected by both these processes, so that inference of past population size depends upon the pattern of gene flow and introgression among past populations. One remarkable aspect of human population history as inferred from genetics is a consistent “wave” of larger effective population size, prior to the bottlenecks and expansions of the last 100,000 years. Here I carry out a series of simulations to investigate how introgression and gene flow from genetically divergent ancestral populations affect the inference of ancestral effective population size. Both introgression and gene flow from an extinct, genetically divergent population consistently produce a wave in the history of inferred effective population size. The time and amplitude of the wave reflect the time of origin of the genetically divergent ancestral populations and the strength of introgression or gene flow. These results demonstrate that even small fractions of introgression or gene flow from ancient populations may have large effects on the inference of effective population size.

scholarly journals The genetic structure of populations of orchids and its evolutionary importance: understanding processes from patterns

Lankesteriana ◽  
2016 ◽  
Vol 3 (2) ◽  
Author(s):  
Raymond L. Tremblay
Keyword(s):  
Gene Flow ◽  
Natural Selection ◽  
Genetic Structure ◽  
Population Size ◽  
Effective Population Size ◽  
Genetic Drift ◽  
Mating Systems ◽  
Mutation Rates ◽  
Effective Population ◽  
Genetic Structure Of Populations

<div class="page" title="Page 1"><div class="layoutArea"><div class="column"><p><span>Evolution through either natural selection or genetic drift is dependent on variation at the genetic and mor- phological levels. Processes that influence the genetic structure of populations include mating systems, effective population size, mutation rates and gene flow among populations. </span></p></div></div></div>

scholarly journals Alu Evolution in Human Populations: Using the Coalescent to Estimate Effective Population Size

Genetics ◽  
1997 ◽  
Vol 147 (4) ◽  
pp. 1977-1982
Author(s):  
Stephen T Sherry ◽  
Henry C Harpending ◽  
Mark A Batzer ◽  
Mark Stoneking
Keyword(s):  
Population Size ◽  
Effective Population Size ◽  
Genomic Library ◽  
Diploid Cell ◽  
Human Populations ◽  
Effective Population ◽  
Alu Repeats ◽  
Branch Lengths ◽  
Diploid Cell Line ◽  
Coalescence Theory

Abstract There are estimated to be ~1000 members of the Ya5 Alu subfamily of retroposons in humans. This Subfamily has a distribution restricted to humans, with a few copies in gorillas and chimpanzees. Fifty-seven Ya5 elements were previously cloned from a HeLaderived randomly sheared total genomic library, sequenced, and screened for polymorphism in a panel of 120 unrelated humans. Forty-four of the 57 cloned Alu repeats were monomorphic in the sample and 13 Alu repeats were dimorphic for insertion presence/absence. The observed distribution of sample frequencies of the 13 dimorphic elements is consistent with the theoretical expectation for elements ascertained in a single diploid cell line. Coalescence theory is used to compute expected total pedigree branch lengths for monomorphic and dimorphic elements, leading to an estimate of human effective population size of ~18,000 during the last one to two million years.

scholarly journals Low effective population size and high spatial genetic structure of black poplar populations from the Oder valley in Poland

2021 ◽  
Vol 78 (2) ◽  
Author(s):  
Błażej Wójkiewicz ◽  
Andrzewj Lewandowski ◽  
Weronika B. Żukowska ◽  
Monika Litkowiec ◽  
Witold Wachowiak
Keyword(s):  
Genetic Structure ◽  
Genetic Resources ◽  
Population Size ◽  
Effective Population Size ◽  
Spatial Genetic Structure ◽  
Demographic History ◽  
River Valley ◽  
Ex Situ ◽  
Effective Population ◽  
Black Poplar

Abstract Context Black poplar (Populus nigra L.) is a keystone species of European riparian ecosystems that has been negatively impacted by riverside urbanization for centuries. Consequently, it has become an endangered tree species in many European countries. The establishment of a suitable rescue plan of the remaining black poplar forest stands requires a preliminary knowledge about the distribution of genetic variation among species populations. However, for some parts of the P. nigra distribution in Europe, the genetic resources and demographic history remain poorly recognized. Aims Here, we present the first study on identifying and characterizing the genetic resources of black poplar from the Oder valley in Poland. This study (1) assessed the genetic variability and effective population size of populations and (2) examined whether gene flow is limited by distance or there is a single migrant pool along the studied river system. Methods A total of 582 poplar trees derived from nine black poplar populations were investigated with nuclear microsatellite markers. Results (1) The allelic richness and heterozygosity level were high and comparable between populations. (2) The genetic structure of the studied poplar stands was not homogenous. (3) The signatures of past bottlenecks were detected. Conclusion Our study (1) provides evidence for genetic substructuring of natural black poplar populations from the studied river catchment, which is not a frequent phenomenon reported for this species in Europe, and (2) indicates which poplar stands may serve as new genetic conservation units (GCUs) of this species in Europe. Key message The genetic resources of black poplar in the Oder River valley are still substantial compared to those reported for rivers in Western Europe. On the other hand, clear signals of isolation by distance and genetic erosion reflected in small effective population sizes and high spatial genetic structure of the analyzed populations were detected. Based on these findings, we recommend the in situ and ex situ conservation strategies for conserving and restoring the genetic resources of black poplar populations in this strongly transformed by human river valley ecosystem.

Effective population size and genetic structure of a Piute ground squirrel (Spermophilus mollis) population

2001 ◽  
Vol 79 (1) ◽  
pp. 26-34 ◽  
Author(s):  
Michael F. Antolin ◽  
Beatrice Van Horne ◽  
Michael D. Berger, Jr. ◽  
Alisha K. Holloway ◽  
Jennifer L. Roach ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Population Size ◽  
Effective Population Size ◽  
Ground Squirrel ◽  
Effective Population

scholarly journals Recombination Gives a New Insight in the Effective Population Size and the History of the Old World Human Populations

2011 ◽  
Vol 29 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Marta Melé ◽  
Asif Javed ◽  
Marc Pybus ◽  
Pierre Zalloua ◽  
Marc Haber ◽  
...  
Keyword(s):  
Population Size ◽  
Effective Population Size ◽  
Human Populations ◽  
Effective Population ◽  
Old World ◽  
History Of

scholarly journals Effective population size of current human population

2011 ◽  
Vol 93 (2) ◽  
pp. 105-114 ◽  
Author(s):  
LEEYOUNG PARK
Keyword(s):  
Population Size ◽  
Effective Population Size ◽  
Human Population ◽  
Random Mating ◽  
Phase Iii ◽  
Human Populations ◽  
Effective Population ◽  
Hapmap Phase ◽  
Hardy Weinberg Equilibrium ◽  
Genetic Drifts

SummaryIn order to estimate the effective population size (Ne) of the current human population, two new approaches, which were derived from previous methods, were used in this study. One is based on the deviation from linkage equilibrium (LE) between completely unlinked loci in different chromosomes and another is based on the deviation from the Hardy–Weinberg Equilibrium (HWE). When random mating in a population is assumed, genetic drifts in population naturally induce linkage disequilibrium (LD) between chromosomes and the deviation from HWE. The latter provides information on the Ne of the current population, and the former provides the same when the Ne is constant. If Ne fluctuates, recent Ne changes are reflected in the estimates based on LE, and the comparison between two estimates can provide information regarding recent changes of Ne. Using HapMap Phase III data, the estimates were varied from 622 to 10 437, depending on populations and estimates. The Ne appeared to fluctuate as it provided different estimates for each of the two methods. These Ne estimates were found to agree approximately with the overall increment observed in recent human populations.

Examination of the relationship between inbreeding and population size

1985 ◽  
Vol 17 (1) ◽  
pp. 97-106 ◽  
Author(s):  
John H. Relethford
Keyword(s):  
Population Structure ◽  
Linear Regression ◽  
Population Size ◽  
Effective Population Size ◽  
Linear Regression Model ◽  
Historical Change ◽  
Human Populations ◽  
Effective Population ◽  
The Common ◽  
The Relationship

SummaryA method is presented for examining the relationship between effective population size and accumulated random inbreeding in human populations. For a set of populations, the inverse of inbreeding is regressed on effective population size using a linear regression model. This procedure allows testing of several hypotheses regarding the common and unique influences on population structure. Deviations from the expected curve suggest demographic or historical change. This method is applied to surname data from nine Irish isolates. The results show that the method is very useful in assessing differential influences on population structure.

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