scholarly journals Population dynamics of GC-changing mutations in humans and great apes

2020 ◽  
Author(s):  
Juraj Bergman ◽  
Mikkel Heide Schierup
Keyword(s):  
Gene Conversion ◽  
Nucleotide Composition ◽  
Human Populations ◽  
Great Ape ◽  
Effective Population ◽  
Biased Gene Conversion ◽  
Repair Mechanisms ◽  
Nucleotide Context ◽  
Population Sizes ◽  
Transitions And Transversions

AbstractBackgroundThe nucleotide composition of the genome is a balance between origin and fixation rates of different mutations. For example, it is well-known that transitions occur more frequently than transversions, particularly at CpG sites. Differences in fixation rates of mutation types are less explored. Specifically, recombination-associated GC-biased gene conversion (gBGC) may differentially impact GC-changing mutations, due to differences in their genomic distributions and efficiency of mismatch repair mechanisms. Given that recombination evolves rapidly across species, we explore gBGC of different mutation types across human populations and among great ape species.ResultsWe report a stronger correlation between GC frequency and recombination for transitions than for transversions. Notably, CpG transitions are most strongly affected by gBGC. We show that the strength of gBGC differs for transitions and transversions but that its overall strength is positively correlated with effective population sizes of human populations and great ape species, with some notable exceptions, such as a stronger effect of gBGC on non-CpG transitions in populations of European descent. We study the dependence of gBGC dynamics on flanking nucleotides and show that some mutation types evolve in opposition to the gBGC expectation, likely due to hypermutability of specific nucleotide contexts.ConclusionsDifferences in GC-biased gene conversion are evident between different mutation types, and dependent on sex-specific recombination, population size and flanking nucleotide context. Our results therefore highlight the importance of different gBGC dynamics experienced by GC-changing mutations and their impact on nucleotide composition evolution.

scholarly journals Population dynamics of GC-changing mutations in humans and great apes

Genetics ◽  
2021 ◽  
Author(s):  
Juraj Bergman ◽  
Mikkel Heide Schierup
Keyword(s):  
Great Apes ◽  
Nucleotide Composition ◽  
Human Populations ◽  
Great Ape ◽  
Effective Population ◽  
European Descent ◽  
Cpg Sites ◽  
Biased Gene Conversion ◽  
Repair Mechanisms ◽  
Population Sizes

Abstract The nucleotide composition of the genome is a balance between origin and fixation rates of different mutations. For example, it is well-known that transitions occur more frequently than transversions, particularly at CpG sites. Differences in fixation rates of mutation types are less explored. Specifically, recombination-associated GC-biased gene conversion (gBGC) may differentially impact GC-changing mutations, due to differences in their genomic distributions and efficiency of mismatch repair mechanisms. Given that recombination evolves rapidly across species, we explore gBGC of different mutation types across human populations and great ape species. We report a stronger correlation between segregating GC frequency and recombination for transitions than for transversions. Notably, CpG transitions are most strongly affected by gBGC in humans and chimpanzees. We show that the overall strength of gBGC is generally correlated with effective population sizes in humans, with some notable exceptions, such as a stronger effect of gBGC on non-CpG transitions in populations of European descent. Furthermore, species of the Gorilla and Pongo genus have a greatly reduced gBGC effect on CpG sites. We also study the dependence of gBGC dynamics on flanking nucleotides and show that some mutation types evolve in opposition to the gBGC expectation, likely due to hypermutability of specific nucleotide contexts. Our results highlight the importance of different gBGC dynamics experienced by GC-changing mutations and their impact on nucleotide composition evolution.

scholarly journals The effect of life-history and mode of inheritance on neutral genetic variability

2001 ◽  
Vol 77 (2) ◽  
pp. 153-166 ◽  
Author(s):  
BRIAN CHARLESWORTH
Keyword(s):  
Sequence Variation ◽  
Adult Mortality ◽  
Structured Populations ◽  
Human Populations ◽  
Effective Population ◽  
Transmission Modes ◽  
Population Sizes ◽  
Age Structured ◽  
Infinite Sites Model ◽  
Site Diversity

Formulae for the effective population sizes of autosomal, X-linked, Y-linked and maternally transmitted loci in age-structured populations are developed. The approximations used here predict both asymptotic rates of increase in probabilities of identity, and equilibrium levels of neutral nucleotide site diversity under the infinite-sites model. The applications of the results to the interpretation of data on DNA sequence variation in Drosophila, plant, and human populations are discussed. It is concluded that sex differences in demographic parameters such as adult mortality rates generally have small effects on the relative effective population sizes of loci with different modes of inheritance, whereas differences between the sexes in variance in reproductive success can have major effects, either increasing or reducing the effective population size for X-linked loci relative to autosomal or Y-linked loci. These effects need to be accounted for when trying to understand data on patterns of sequence variation for genes with different transmission modes.

scholarly journals Changes in life history and population size can explain the relative neutral diversity levels on X and autosomes in extant human populations

2020 ◽  
Vol 117 (33) ◽  
pp. 20063-20069
Author(s):  
Guy Amster ◽  
David A. Murphy ◽  
William R. Milligan ◽  
Guy Sella
Keyword(s):  
Life History ◽  
Population Size ◽  
Mutation Rates ◽  
Human Populations ◽  
Effective Population ◽  
Mutation Bias ◽  
Female Ratio ◽  
Generation Times ◽  
Population Sizes ◽  
Male Mutation Bias

In human populations, the relative levels of neutral diversity on the X and autosomes differ markedly from each other and from the naïve theoretical expectation of 3/4. Here we propose an explanation for these differences based on new theory about the effects of sex-specific life history and given pedigree-based estimates of the dependence of human mutation rates on sex and age. We demonstrate that life history effects, particularly longer generation times in males than in females, are expected to have had multiple effects on human X-to-autosome (X:A) diversity ratios, as a result of male-biased mutation rates, the equilibrium X:A ratio of effective population sizes, and the differential responses to changes in population size. We also show that the standard approach of using divergence between species to correct for male mutation bias results in biased estimates of X:A effective population size ratios. We obtain alternative estimates using pedigree-based estimates of the male mutation bias, which reveal that X:A ratios of effective population sizes are considerably greater than previously appreciated. Finally, we find that the joint effects of historical changes in life history and population size can explain the observed X:A diversity ratios in extant human populations. Our results suggest that ancestral human populations were highly polygynous, that non-African populations experienced a substantial reduction in polygyny and/or increase in the male-to-female ratio of generation times around the Out-of-Africa bottleneck, and that current diversity levels were affected by fairly recent changes in sex-specific life history.

Mutation, Gene Conversion, and Migration

2020 ◽  
pp. 75-108
Author(s):  
Daniel L. Hartl
Keyword(s):  
Nucleotide Sequence ◽  
Gene Conversion ◽  
Sequence Data ◽  
Functional Divergence ◽  
Random Genetic Drift ◽  
Effective Population ◽  
Population Number ◽  
Biased Gene Conversion ◽  
Stepping Stone Models ◽  
And Migration

Chapter 4 focuses on forward and reverse mutation, gene duplication and functional divergence, gene conversion, and equilibrium heterozygosity. It includes an introduction to the coalescent as well as the Wright–Fisher and Moran models of random genetic drift, measures of nucleotide polymorphism and diversity, and how these may be estimated from sequence data. Biased gene conversion is discussed in regard to its effects on homogeneity of nucleotide sequence across the genome. Several distinct types of effective population number are compared and contrasted including the inbreeding, variance, and coalescent effective numbers. Various models of migration are also examined including one-way migration, the island model, and stepping-stone models.

scholarly journals Codon Usage Bias in Animals: Disentangling the Effects of Natural Selection, Effective Population Size, and GC-Biased Gene Conversion

2018 ◽  
Vol 35 (5) ◽  
pp. 1092-1103 ◽  
Author(s):  
Nicolas Galtier ◽  
Camille Roux ◽  
Marjolaine Rousselle ◽  
Jonathan Romiguier ◽  
Emeric Figuet ◽  
...  
Keyword(s):  
Natural Selection ◽  
Codon Usage ◽  
Population Size ◽  
Gene Conversion ◽  
Effective Population Size ◽  
Codon Usage Bias ◽  
Effective Population ◽  
Biased Gene Conversion

scholarly journals HIV-2 Diversity Displays Two Clades within group A with Distinct Geographical Distribution and Evolution

2021 ◽  
Author(s):  
Benoit Visseaux ◽  
Mélanie Bertine ◽  
Quentin Le Hingrat ◽  
Valentine Ferré ◽  
Charlotte Charpentier ◽  
...  
Keyword(s):  
Ivory Coast ◽  
Genetic Distances ◽  
Human Populations ◽  
Effective Population ◽  
African Countries ◽  
Guinea Bissau ◽  
Western Africa ◽  
Early Diversification ◽  
Population Sizes ◽  
Group A

Abstract Genetic diversity of HIV-2 groups A and B has not yet been fully described, especially in a few Western Africa countries such as Ivory-Coast or Mali. We collected 444 pol, 152 vif, 129 env, and 74 LTR sequences from patients of the French ANRS CO5 HIV-2 cohort completed by 221 pol, 18 vif, 377 env, and 63 LTR unique sequences from public databases. We performed phylogenetic reconstructions and revealed two distinct lineages within HIV-2 group A, herein called A1 and A2, presenting non-negligible genetic distances and distinct geographic distributions as A1 is related to coastal Western African countries and A2 to inland Western countries. Estimated early diversification times for groups A and B in human populations were 1940 [95% HPD: 1935-53] and 1961 [1952-70]. A1 experienced an early diversification in 1942 [1937-58] with two distinct early epidemics in Guinea-Bissau or Senegal, raising the possibility of group A emergence in those countries from an initial introduction from Ivory-Coast to Senegal, two former French colonies. Changes in effective population sizes over time revealed that A1 exponentially grew concomitantly to Guinea-Bissau independence war, but both A2 and B lineages experienced a latter growth, starting during the 80’s economic crisis. They all decreased after the 2000’s but at a slow rate for A2 and B lineages. This large HIV-2 genetic analysis provides suggest the existence of two distinct subtypes within group A and new data about HIV-2 early spreading patterns and recent epidemiologic evolution for which data are scarce outside Guinea-Bissau.

scholarly journals Quantifying GC-Biased Gene Conversion in Great Ape Genomes Using Polymorphism-Aware Models

Genetics ◽  
2019 ◽  
Vol 212 (4) ◽  
pp. 1321-1336 ◽  
Author(s):  
Rui Borges ◽  
Gergely J. Szöllősi ◽  
Carolin Kosiol
Keyword(s):  
Gene Conversion ◽  
Great Ape ◽  
Biased Gene Conversion

scholarly journals GC-content evolution in bacterial genomes: the biased gene conversion hypothesis expands.

2014 ◽  
Author(s):  
Florent Lassalle ◽  
Séverine Périan ◽  
Thomas Bataillon ◽  
Xavier Nesme ◽  
Laurent Duret ◽  
...  
Keyword(s):  
Gene Conversion ◽  
Bacterial Species ◽  
Gc Content ◽  
Base Substitution ◽  
Human Populations ◽  
Bacterial Genomes ◽  
Evolutionary Forces ◽  
Evolutionary Force ◽  
Biased Gene Conversion ◽  
Genomic Regions

The characterization of functional elements in genomes relies on the identification of the footprints of natural selection. In this quest, taking into account neutral evolutionary processes such as mutation and genetic drift is crucial because these forces can generate patterns that may obscure or mimic signatures of selection. In mammals, and probably in many eukaryotes, another such confounding factor called GC-Biased Gene Conversion (gBGC) has been documented. This mechanism generates patterns identical to what is expected under selection for higher GC-content, specifically in highly recombining genomic regions. Recent results have suggested that a mysterious selective force favouring higher GC-content exists in Bacteria but the possibility that it could be gBGC has been excluded. Here, we show that gBGC is probably at work in most if not all bacterial species. First we find a consistent positive relationship between the GC-content of a gene and evidence of intra-genic recombination throughout a broad spectrum of bacterial clades. Second, we show that the evolutionary force responsible for this pattern is acting independently from selection on codon usage, and could potentially interfere with selection in favor of optimal AU-ending codons. A comparison with data from human populations shows that the intensity of gBGC in Bacteria is comparable to what has been reported in mammals. We propose that gBGC is not restricted to sexual Eukaryotes but also widespread among Bacteria and could therefore be an ancestral feature of cellular organisms. We argue that if gBGC occurs in bacteria, it can account for previously unexplained observations, such as the apparent non-equilibrium of base substitution patterns and the heterogeneity of gene composition within bacterial genomes. Because gBGC produces patterns similar to positive selection, it is essential to take this process into account when studying the evolutionary forces at work in bacterial genomes.

scholarly journals Quantifying GC-biased gene conversion in great ape genomes using polymorphism-aware models

2018 ◽  
Author(s):  
Rui Borges ◽  
Gergely Szöllősi ◽  
Carolin Kosiol
Keyword(s):  
Gene Conversion ◽  
Population Data ◽  
Great Apes ◽  
Genetic Distances ◽  
Mutation Rates ◽  
Great Ape ◽  
Genome Wide ◽  
Biased Gene Conversion ◽  
Allelic Selection ◽  
The Impact

AbstractAs multi-individual population-scale data is becoming available, more-complex modeling strategies are needed to quantify the genome-wide patterns of nucleotide usage and associated mechanisms of evolution. Recently, the multivariate neutral Moran model was proposed. However, it was shown insufficient to explain the distribution of alleles in great apes. Here, we propose a new model that includes allelic selection. Our theoretical results constitute the basis of a new Bayesian framework to estimate mutation rates and selection coefficients from population data. We employ the new framework to a great ape dataset at we found patterns of allelic selection that match those of genome-wide GC-biased gene conversion (gBCG). In particular, we show that great apes have patterns of allelic selection that vary in intensity, a feature that we correlated with the great apes’ distinct demographies. We also demonstrate that the AT/GC toggling effect decreases the probability of a substitution, promoting more polymorphisms in the base composition of great ape genomes. We further assess the impact of CG-bias in molecular analysis and we find that mutation rates and genetic distances are estimated under bias when gBGC is not properly accounted. Our results contribute to the discussion on the tempo and mode of gBGC evolution, while stressing the need for gBGC-aware models in population genetics and phylogenetics.

scholarly journals Codon usage bias in animals: disentangling the effects of natural selection, effective population size and GC-biased gene conversion

2017 ◽  
Author(s):  
N. Galtier ◽  
C. Roux ◽  
M. Rousselle ◽  
J. Romiguier ◽  
E. Figuet ◽  
...  
Keyword(s):  
Natural Selection ◽  
Codon Usage ◽  
Population Size ◽  
Gene Conversion ◽  
Effective Population Size ◽  
Codon Usage Bias ◽  
Effective Population ◽  
Translational Selection ◽  
Wide Range ◽  
Biased Gene Conversion

AbstractSelection on codon usage bias is well documented in a number of microorganisms. Whether codon usage is also generally shaped by natural selection in large organisms, despite their relatively small effective population size (Ne), is unclear. Codon usage bias in animals has only been studied in a handful of model organisms so far, and can be affected by confounding, non-adaptive processes such as GC-biased gene conversion and experimental artefacts. Using population transcriptomics data we analysed the relationship between codon usage, gene expression, allele frequency distribution and recombination rate in 31 non-model species of animals, each from a different family, covering a wide range of effective population sizes. We disentangled the effects of translational selection and GC-biased gene conversion on codon usage by separately analysing GC-conservative and GC-changing mutations. We report evidence for effective translational selection on codon usage in large-Ne species of animals, but not in small-Ne ones, in agreement with the nearly neutral theory of molecular evolution. C- and T-ending codons are generally preferred over synonymous G- and A-ending ones, for reasons that remain to be determined. In contrast, we uncovered a conspicuous effect of GC-biased gene conversion, which is widespread in animals and the main force determining the fate of AT↔GC mutations. Intriguingly, the strength of its effect was uncorrelated with Ne.

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