scholarly journals The Effects of Hill-Robertson Interference Between Weakly Selected Mutations on Patterns of Molecular Evolution and Variation

Genetics ◽  
2000 ◽  
Vol 155 (2) ◽  
pp. 929-944 ◽  
Author(s):  
Gilean A T McVean ◽  
Brian Charlesworth
Keyword(s):  
Codon Bias ◽  
Molecular Adaptation ◽  
Weak Selection ◽  
Multiple Loci ◽  
Locus Model ◽  
Fitness Consequences ◽  
Novel Variants ◽  
Population Sizes ◽  
The Hill ◽  
Reversible Mutation

Abstract Associations between selected alleles and the genetic backgrounds on which they are found can reduce the efficacy of selection. We consider the extent to which such interference, known as the Hill-Robertson effect, acting between weakly selected alleles, can restrict molecular adaptation and affect patterns of polymorphism and divergence. In particular, we focus on synonymous-site mutations, considering the fate of novel variants in a two-locus model and the equilibrium effects of interference with multiple loci and reversible mutation. We find that weak selection Hill-Robertson (wsHR) interference can considerably reduce adaptation, e.g., codon bias, and, to a lesser extent, levels of polymorphism, particularly in regions of low recombination. Interference causes the frequency distribution of segregating sites to resemble that expected from more weakly selected mutations and also generates specific patterns of linkage disequilibrium. While the selection coefficients involved are small, the fitness consequences of wsHR interference across the genome can be considerable. We suggest that wsHR interference is an important force in the evolution of nonrecombining genomes and may explain the unexpected constancy of codon bias across species of very different census population sizes, as well as several unusual features of codon usage in Drosophila.

scholarly journals The degeneration of Y chromosomes

2000 ◽  
Vol 355 (1403) ◽  
pp. 1563-1572 ◽  
Author(s):  
Brian Charlesworth ◽  
Deborah Charlesworth
Keyword(s):  
Y Chromosome ◽  
Empirical Studies ◽  
Effective Population ◽  
Weak Selection ◽  
Deleterious Alleles ◽  
Y Chromosomes ◽  
Population Sizes ◽  
The Hill ◽  
Future Work ◽  
Active Genes

Y chromosomes are genetically degenerate, having lost most of the active genes that were present in their ancestors. The causes of this degeneration have attracted much attention from evolutionary theorists. Four major theories are reviewed here: Muller's ratchet, background selection, the Hill–Robertson effect with weak selection, and the ‘hitchhiking’ of deleterious alleles by favourable mutations. All of these involve a reduction in effective population size as a result of selective events occurring in a non–recombining genome, and the consequent weakening of the efficacy of selection. We review the consequences of these processes for patterns of molecular evolution and variation at loci on Y chromosomes, and discuss the results of empirical studies of these patterns for some evolving Y–chromosome and neo–Y–chromosome systems. These results suggest that the effective population sizes of evolving Y or neo–Y chromosomes are severely reduced, as expected if some or all of the hypothesized processes leading to degeneration are operative. It is, however, currently unclear which of the various processes is most important; some directions for future work to help to resolve this question are discussed.

scholarly journals Evolution of Codon Usage Bias in Diatoms

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 894 ◽  
Author(s):  
Marc Krasovec ◽  
Dmitry A. Filatov
Keyword(s):  
Codon Usage ◽  
Codon Usage Bias ◽  
Codon Bias ◽  
Diatom Species ◽  
Effective Population ◽  
Weak Selection ◽  
Optimal Codons ◽  
Wide Range ◽  
Population Sizes ◽  
Selection For

Codon usage bias (CUB)—preferential use of one of the synonymous codons, has been described in a wide range of organisms from bacteria to mammals, but it has not yet been studied in marine phytoplankton. CUB is thought to be caused by weak selection for translational accuracy and efficiency. Weak selection can overpower genetic drift only in species with large effective population sizes, such as Drosophila that has relatively strong CUB, while organisms with smaller population sizes (e.g., mammals) have weak CUB. Marine plankton species tend to have extremely large populations, suggesting that CUB should be very strong. Here we test this prediction and describe the patterns of codon usage in a wide range of diatom species belonging to 35 genera from 4 classes. We report that most of the diatom species studied have surprisingly modest CUB (mean Effective Number of Codons, ENC = 56), with some exceptions showing stronger codon bias (ENC = 44). Modest codon bias in most studied diatom species may reflect extreme disparity between astronomically large census and modest effective population size (Ne), with fluctuations in population size and linked selection limiting long-term Ne and rendering selection for optimal codons less efficient. For example, genetic diversity (pi ~0.02 at silent sites) in Skeletonema marinoi corresponds to Ne of about 10 million individuals, which is likely many orders of magnitude lower than its census size. Still, Ne ~107 should be large enough to make selection for optimal codons efficient. Thus, we propose that an alternative process—frequent changes of preferred codons, may be a more plausible reason for low CUB despite highly efficient selection for preferred codons in diatom populations. The shifts in the set of optimal codons should result in the changes of the direction of selection for codon usage, so the actual codon usage never catches up with the moving target of the optimal set of codons and the species never develop strong CUB. Indeed, we detected strong shifts in preferential codon usage within some diatom genera, with switches between preferentially GC-rich and AT-rich 3rd codon positions (GC3). For example, GC3 ranges from 0.6 to 1 in most Chaetoceros species, while for Chaetoceros dichaeta GC3 = 0.1. Both variation in selection intensity and mutation spectrum may drive such shifts in codon usage and limit the observed CUB. Our study represents the first genome-wide analysis of CUB in diatoms and the first such analysis for a major phytoplankton group.

scholarly journals Bayes Estimation of Species Divergence Times and Ancestral Population Sizes Using DNA Sequences From Multiple Loci

Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1645-1656 ◽  
Author(s):  
Bruce Rannala ◽  
Ziheng Yang
Keyword(s):  
Dna Sequences ◽  
Gene Tree ◽  
Species Tree ◽  
Bayes Estimation ◽  
Ancestral Population ◽  
Divergence Times ◽  
Gene Trees ◽  
Species Divergence ◽  
Multiple Loci ◽  
Population Sizes

Abstract The effective population sizes of ancestral as well as modern species are important parameters in models of population genetics and human evolution. The commonly used method for estimating ancestral population sizes, based on counting mismatches between the species tree and the inferred gene trees, is highly biased as it ignores uncertainties in gene tree reconstruction. In this article, we develop a Bayes method for simultaneous estimation of the species divergence times and current and ancestral population sizes. The method uses DNA sequence data from multiple loci and extracts information about conflicts among gene tree topologies and coalescent times to estimate ancestral population sizes. The topology of the species tree is assumed known. A Markov chain Monte Carlo algorithm is implemented to integrate over uncertain gene trees and branch lengths (or coalescence times) at each locus as well as species divergence times. The method can handle any species tree and allows different numbers of sequences at different loci. We apply the method to published noncoding DNA sequences from the human and the great apes. There are strong correlations between posterior estimates of speciation times and ancestral population sizes. With the use of an informative prior for the human-chimpanzee divergence date, the population size of the common ancestor of the two species is estimated to be ∼20,000, with a 95% credibility interval (8000, 40,000). Our estimates, however, are affected by model assumptions as well as data quality. We suggest that reliable estimates have yet to await more data and more realistic models.

scholarly journals Martingales and fixation probabilities of evolutionary graphs

2014 ◽  
Vol 470 (2165) ◽  
pp. 20130730 ◽  
Author(s):  
T. Monk ◽  
P. Green ◽  
M. Paulin
Keyword(s):  
Graph Theory ◽  
Random Walk ◽  
Large Population ◽  
Initial Population ◽  
Weak Selection ◽  
Simplifying Assumptions ◽  
Population Sizes ◽  
Fixation Probabilities ◽  
Evolutionary Graph Theory ◽  
Complete Bipartite Graphs

Evolutionary graph theory is the study of birth–death processes that are constrained by population structure. A principal problem in evolutionary graph theory is to obtain the probability that some initial population of mutants will fixate on a graph, and to determine how that fixation probability depends on the structure of that graph. A fluctuating mutant population on a graph can be considered as a random walk. Martingales exploit symmetry in the steps of a random walk to yield exact analytical expressions for fixation probabilities. They do not require simplifying assumptions such as large population sizes or weak selection. In this paper, we show how martingales can be used to obtain fixation probabilities for symmetric evolutionary graphs. We obtain simpler expressions for the fixation probabilities of star graphs and complete bipartite graphs than have been previously reported and show that these graphs do not amplify selection for advantageous mutations under all conditions.

scholarly journals Estimation of universal and taxon-specific parameters of prokaryotic genome evolution

2017 ◽  
Author(s):  
Itamar Sela ◽  
Yuri I. Wolf ◽  
Eugene V. Koonin
Keyword(s):  
Genome Evolution ◽  
Ad Hoc ◽  
Prokaryotic Genome ◽  
Microbial Genome ◽  
Selection Coefficient ◽  
Effective Population ◽  
Weak Selection ◽  
Gene Acquisition ◽  
Population Sizes ◽  
The Mean

AbstractOur recent study on mathematical modeling of microbial genome evolution indicated that, on average, genomes of bacteria and archaea evolve in the regime of mutation-selection balance defined by positive selection coefficients associated with gene acquisition that is counter-acted by the intrinsic deletion bias. This analysis was based on the strong assumption that parameters of genome evolution are universal across the diversity of bacteria and archaea, and yielded extremely low values of the selection coefficient. Here we further refine the modeling approach by taking into account evolutionary factors specific for individual groups of microbes using two independent fitting strategies, an ad hoc hard fitting scheme and an hierarchical Bayesian model. The resulting estimate of the mean selection coefficient of s∼10-10 associated with the gain of one gene implies that, on average, acquisition of a gene is beneficial, and that microbial genomes typically evolve under a weak selection regime that might transition to strong selection in highly abundant organisms with large effective population sizes. The apparent selective pressure towards larger genomes is balanced by the deletion bias, which is estimated to be consistently greater than unity for all analyzed groups of microbes. The estimated values of s are more realistic than the lower values obtained previously, indicating that global and group-specific evolutionary factors synergistically affect microbial genome evolution that seems to be driven primarily by adaptation to existence in diverse niches.

Population differentiation in Pacific salmons: local adaptation genetic drift, or the environment?

1995 ◽  
Vol 52 (12) ◽  
pp. 2762-2777 ◽  
Author(s):  
Milo D. Adkison
Keyword(s):  
Local Adaptation ◽  
Genetic Drift ◽  
Pacific Salmon ◽  
Genetic Homogeneity ◽  
Biological Research ◽  
Weak Selection ◽  
Selective Pressures ◽  
Population Sizes ◽  
Founder Events ◽  
Stable Populations

Morphological, behavioral, and life-history differences between Pacific salmon (Oncorhynchus spp.) populations are commonly thought to reflect local adaptation, and it is likewise common to assume that salmon populations separated by small distances are locally adapted. Two alternatives to local adaptation exist: random genetic differentiation owing to genetic drift and founder events, and genetic homogeneity among populations, in which differences reflect differential trait expression in differing environments. Population genetics theory and simulations suggest that both alternatives are possible. With selectively neutral alleles, genetic drift can result in random differentiation despite many strays per generation. Even weak selection can prevent genetic drift in stable populations; however, founder effects can result in random differentiation despite selective pressures. Overlapping generations reduce the potential for random differentiation. Genetic homogeneity can occur despite differences in selective regimes when straying rates are high. In sum, localized differences in selection should not always result in local adaptation. Local adaptation is favored when population sizes are large and stable, selection is consistent over large areas, selective differentials are large, and straying rates are neither too high nor too low. Consideration of alternatives to adaptation would improve both biological research and salmon conservation efforts.

Genotypic analysis at multiple loci across Kaposi's sarcoma herpesvirus (KSHV) DNA molecules: clustering patterns, novel variants and chimerism

2002 ◽  
Vol 23 (3) ◽  
pp. 119-148 ◽  
Author(s):  
Jianchao Zong ◽  
Dolores M Ciufo ◽  
Raphael Viscidi ◽  
Lee Alagiozoglou ◽  
Stephen Tyring ◽  
...  
Keyword(s):  
Kaposi's Sarcoma ◽  
Kaposi’S Sarcoma ◽  
Dna Molecules ◽  
Multiple Loci ◽  
Genotypic Analysis ◽  
Novel Variants ◽  
Clustering Patterns

scholarly journals Natural Selection on Synonymous Sites Is Correlated With Gene Length and Recombination in Drosophila

Genetics ◽  
1999 ◽  
Vol 151 (1) ◽  
pp. 239-249 ◽  
Author(s):  
Josep M Comeron ◽  
Martin Kreitman ◽  
Montserrat Aguadé
Keyword(s):  
Natural Selection ◽  
Codon Bias ◽  
Synonymous Substitution ◽  
Small Scale ◽  
Evolutionary Analysis ◽  
Coding Region ◽  
Weak Selection ◽  
Recombination Rates ◽  
Synonymous Mutations ◽  
Synonymous Sites

AbstractEvolutionary analysis of codon bias in Drosophila indicates that synonymous mutations are not neutral, but rather are subject to weak selection at the translation level. Here we show that the effectiveness of natural selection on synonymous sites is strongly correlated with the rate of recombination, in accord with the nearly neutral hypothesis. This correlation, however, is apparent only in genes encoding short proteins. Long coding regions have both a lower codon bias and higher synonymous substitution rates, suggesting that they are affected less efficiently by selection. Therefore, both the length of the coding region and the recombination rate modulate codon bias. In addition, the data indicate that selection coefficients for synonymous mutations must vary by a minimum of one or two orders of magnitude. Two hypotheses are proposed to explain the relationship among the coding region length, the codon bias, and the synonymous divergence and polymorphism levels across the range of recombination rates in Drosophila. The first hypothesis is that selection coefficients on synonymous mutations are inversely related to the total length of the coding region. The second hypothesis proposes that interference among synonymous mutations reduces the efficacy of selection on these mutations. We investigated this second hypothesis by carrying out forward simulations of weakly selected mutations in model populations. These simulations show that even with realistic recombination rates, this interference, which we call the “small-scale” Hill-Robertson effect, can have a moderately strong influence on codon bias.

Likelihood and Bayes Estimation of Ancestral Population Sizes in Hominoids Using Data From Multiple Loci

Genetics ◽  
2002 ◽  
Vol 162 (4) ◽  
pp. 1811-1823 ◽  
Author(s):  
Ziheng Yang
Keyword(s):  
Population Size ◽  
Gene Tree ◽  
Bayes Estimation ◽  
Joint Estimation ◽  
Ancestral Population ◽  
Human Populations ◽  
Data Set ◽  
Bayes Methods ◽  
Multiple Loci ◽  
Population Sizes

AbstractPolymorphisms in an ancestral population can cause conflicts between gene trees and the species tree. Such conflicts can be used to estimate ancestral population sizes when data from multiple loci are available. In this article I extend previous work for estimating ancestral population sizes to analyze sequence data from three species under a finite-site nucleotide substitution model. Both maximum-likelihood (ML) and Bayes methods are implemented for joint estimation of the two speciation dates and the two population size parameters. Both methods account for uncertainties in the gene tree due to few informative sites at each locus and make an efficient use of information in the data. The Bayes algorithm using Markov chain Monte Carlo (MCMC) enjoys a computational advantage over ML and also provides a framework for incorporating prior information about the parameters. The methods are applied to a data set of 53 nuclear noncoding contigs from human, chimpanzee, and gorilla published by Chen and Li. Estimates of the effective population size for the common ancestor of humans and chimpanzees by both ML and Bayes methods are ∼12,000-21,000, comparable to estimates for modern humans, and do not support the notion of a dramatic size reduction in early human populations. Estimates published previously from the same data are several times larger and appear to be biased due to methodological deficiency. The divergence between humans and chimpanzees is dated at ∼5.2 million years ago and the gorilla divergence 1.1-1.7 million years earlier. The analysis suggests that typical data sets contain useful information about the ancestral population sizes and that it is advantageous to analyze data of several species simultaneously.

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