The distribution and causes of meiotic recombination in the human genome

2006 ◽  
Vol 34 (4) ◽  
pp. 526-530 ◽  
Author(s):  
S. Myers ◽  
C.C.A. Spencer ◽  
A. Auton ◽  
L. Bottolo ◽  
C. Freeman ◽  
...  
Keyword(s):  
Human Genome ◽  
Local Context ◽  
Rate Variation ◽  
Dna Repeats ◽  
Recombination Rates ◽  
Recombination Hotspots ◽  
Rates Of Evolution ◽  
Recombination Rate Variation ◽  
Very High

Using the statistical analysis of genetic variation, we have developed a high-resolution genetic map of recombination hotspots and recombination rate variation across the human genome. This map, which has a resolution several orders of magnitude greater than previous studies, identifies over 25000 recombination hotspots and gives new insights into the distribution and determination of recombination. Wavelet-based analysis demonstrates scale-specific influences of base composition, coding context and DNA repeats on recombination rates, though, in contrast with other species, no association with DNase I hypersensitivity. We have also identified specific DNA motifs that are strongly associated with recombination hotspots and whose activity is influenced by local context. Comparative analysis of recombination rates in humans and chimpanzees demonstrates very high rates of evolution of the fine-scale structure of the recombination landscape. In the light of these observations, we suggest possible resolutions of the hotspot paradox.

scholarly journals Inferring the Genomic Landscape of Recombination Rate Variation in European Aspen (Populus tremula)

2019 ◽  
Vol 10 (1) ◽  
pp. 299-309 ◽  
Author(s):  
Rami-Petteri Apuli ◽  
Carolina Bernhardsson ◽  
Bastian Schiffthaler ◽  
Kathryn M. Robinson ◽  
Stefan Jansson ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Linkage Map ◽  
Recombination Rate ◽  
Gene Density ◽  
Populus Tremula ◽  
Rate Variation ◽  
Recombination Rates ◽  
Genomic Features ◽  
European Aspen ◽  
Recombination Rate Variation

The rate of meiotic recombination is one of the central factors determining genome-wide levels of linkage disequilibrium which has important consequences for the efficiency of natural selection and for the dissection of quantitative traits. Here we present a new, high-resolution linkage map for Populus tremula that we use to anchor approximately two thirds of the P. tremula draft genome assembly on to the expected 19 chromosomes, providing us with the first chromosome-scale assembly for P. tremula (Table 2). We then use this resource to estimate variation in recombination rates across the P. tremula genome and compare these results to recombination rates based on linkage disequilibrium in a large number of unrelated individuals. We also assess how variation in recombination rates is associated with a number of genomic features, such as gene density, repeat density and methylation levels. We find that recombination rates obtained from the two methods largely agree, although the LD-based method identifies a number of genomic regions with very high recombination rates that the map-based method fails to detect. Linkage map and LD-based estimates of recombination rates are positively correlated and show similar correlations with other genomic features, showing that both methods can accurately infer recombination rate variation across the genome. Recombination rates are positively correlated with gene density and negatively correlated with repeat density and methylation levels, suggesting that recombination is largely directed toward gene regions in P. tremula.

scholarly journals What drives the evolution of condition-dependent recombination in diploids? Some insights from simulation modelling

2017 ◽  
Vol 372 (1736) ◽  
pp. 20160460 ◽  
Author(s):  
Sviatoslav R. Rybnikov ◽  
Zeev M. Frenkel ◽  
Abraham B. Korol
Keyword(s):  
Recombination Rate ◽  
External Environment ◽  
Theoretical Models ◽  
Simulation Modelling ◽  
Condition Dependence ◽  
Rate Variation ◽  
Theoretical Studies ◽  
Recombination Rates ◽  
Modifier Locus ◽  
Recombination Rate Variation

While the evolutionary advantages of non-zero recombination rates have prompted diverse theoretical explanations, the evolution of essential recombination features remains underexplored. We focused on one such feature, the condition dependence of recombination, viewed as the variation in within-generation sensitivity of recombination to external (environment) and/or internal (genotype) conditions. Limited empirical evidence for its existence comes mainly from diploids, whereas theoretical models show that it only easily evolves in haploids. The evolution of condition-dependent recombination can be explained by its advantage for the selected system (indirect effect), or by benefits to modifier alleles, ensuring this strategy regardless of effects on the selected system (direct effect). We considered infinite panmictic populations of diploids exposed to a cyclical two-state environment. Each organism had three selected loci. Examining allele dynamics at a fourth, selectively neutral recombination modifier locus, we frequently observed that a modifier allele conferring condition-dependent recombination between the selected loci displaced the allele conferring the optimal constant recombination rate. Our simulations also confirm the results of theoretical studies showing that condition-dependent recombination cannot evolve in diploids on the basis of direct fitness-dependent effects alone. Therefore, the evolution of condition-dependent recombination in diploids can be driven by indirect effects alone, i.e. by modifier effects on the selected system. This article is part of the themed issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’.

scholarly journals Low recombination rates in sexual species and sex–asex transitions

2017 ◽  
Vol 372 (1736) ◽  
pp. 20160461 ◽  
Author(s):  
Christoph R. Haag ◽  
Loukas Theodosiou ◽  
Roula Zahab ◽  
Thomas Lenormand
Keyword(s):  
Model Systems ◽  
Rate Variation ◽  
Linkage Maps ◽  
Undescribed Species ◽  
Linkage Groups ◽  
Recombination Rates ◽  
Homologous Chromosomes ◽  
Genetic Linkage Maps ◽  
Chromosome Maps ◽  
Recombination Rate Variation

In most sexual, diploid eukaryotes, at least one crossover occurs between each pair of homologous chromosomes during meiosis, presumably in order to ensure proper segregation. Well-known exceptions to this rule are species in which one sex does not recombine and specific chromosomes lacking crossover. We review other possible exceptions, including species with chromosome maps of less than 50 cM in one or both sexes. We discuss the idea that low recombination rates may favour sex–asex transitions, or, alternatively may be a consequence of it. We then show that a yet undescribed species of brine shrimp Artemia from Kazakhstan ( A . sp. Kazakhstan), the closest known relative of the asexual Artemia parthenogenetica , has one of the shortest genetic linkage maps known. Based on a family of 42 individuals and 589 RAD markers, we find that many linkage groups are considerably shorter than 50 cM, suggesting either no obligate crossover or crossovers concentrated at terminal positions with little effect on recombination. We contrast these findings with the published map of the more distantly related sexual congener, A. franciscana , and conclude that the study of recombination in non-model systems is important to understand the evolutionary causes and consequences of recombination. This article is part of the themed issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’.

scholarly journals Genomics of recombination rate variation in temperature-evolved Drosophila melanogaster populations

2020 ◽  
Author(s):  
Ari Winbush ◽  
Nadia D Singh
Keyword(s):  
Drosophila Melanogaster ◽  
Temperature Regime ◽  
Recombination Rate ◽  
Evolutionary Biology ◽  
Genetic Basis ◽  
Rate Variation ◽  
Potential Candidate ◽  
Nucleotide Polymorphisms ◽  
Recombination Rates ◽  
Recombination Rate Variation

Abstract Meiotic recombination is a critical process that ensures proper segregation of chromosome homologues through DNA double strand break repair mechanisms. Rates of recombination are highly variable among various taxa, within species, and within genomes with far-reaching evolutionary and genomic consequences. The genetic basis of recombination rate variation is therefore crucial in the study of evolutionary biology but remains poorly understood. In this study we took advantage of a set of experimental temperature-evolved populations of Drosophila melanogaster with heritable differences in recombination rates depending on the temperature regime in which they evolved. We performed whole genome sequencing and identified several chromosomal regions that appear to be divergent depending on temperature regime. In addition, we identify a set of single nucleotide polymorphisms and associated genes with significant differences in allele frequency when the different temperature populations are compared. Further refinement of these gene candidates emphasizing those expressed in the ovary and associated with DNA binding reveals numerous potential candidate genes such as Hr38, EcR, and mamo responsible for observed differences in recombination rates in these experimental evolution lines thus providing insight into the genetic basis of recombination rate variation.

scholarly journals Coevolution between transposable elements and recombination

2017 ◽  
Vol 372 (1736) ◽  
pp. 20160458 ◽  
Author(s):  
Tyler V. Kent ◽  
Jasmina Uzunović ◽  
Stephen I. Wright
Keyword(s):  
Transposable Elements ◽  
Genome Structure ◽  
Rate Variation ◽  
Species Variation ◽  
Insertion Polymorphism ◽  
Recombination Rates ◽  
Recombination Suppression ◽  
Evolutionary Forces ◽  
Genomic Regions ◽  
Recombination Rate Variation

One of the most striking patterns of genome structure is the tight, typically negative, association between transposable elements (TEs) and meiotic recombination rates. While this is a highly recurring feature of eukaryotic genomes, the mechanisms driving correlations between TEs and recombination remain poorly understood, and distinguishing cause versus effect is challenging. Here, we review the evidence for a relation between TEs and recombination, and discuss the underlying evolutionary forces. Evidence to date suggests that overall TE densities correlate negatively with recombination, but the strength of this correlation varies across element types, and the pattern can be reversed. Results suggest that heterogeneity in the strength of selection against ectopic recombination and gene disruption can drive TE accumulation in regions of low recombination, but there is also strong evidence that the regulation of TEs can influence local recombination rates. We hypothesize that TE insertion polymorphism may be important in driving within-species variation in recombination rates in surrounding genomic regions. Furthermore, the interaction between TEs and recombination may create positive feedback, whereby TE accumulation in non-recombining regions contributes to the spread of recombination suppression. Further investigation of the coevolution between recombination and TEs has important implications for our understanding of the evolution of recombination rates and genome structure. This article is part of the themed issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’.

scholarly journals Variation in recombination frequency and distribution across eukaryotes: patterns and processes

2017 ◽  
Vol 372 (1736) ◽  
pp. 20160455 ◽  
Author(s):  
Jessica Stapley ◽  
Philine G. D. Feulner ◽  
Susan E. Johnston ◽  
Anna W. Santure ◽  
Carole M. Smadja
Keyword(s):  
Recombination Rate ◽  
Molecular Mechanisms ◽  
Current Knowledge ◽  
Essential Feature ◽  
Rate Variation ◽  
Evolutionary Processes ◽  
Recombination Rates ◽  
Great Opportunity ◽  
Patterns And Processes ◽  
Recombination Rate Variation

Recombination, the exchange of DNA between maternal and paternal chromosomes during meiosis, is an essential feature of sexual reproduction in nearly all multicellular organisms. While the role of recombination in the evolution of sex has received theoretical and empirical attention, less is known about how recombination rate itself evolves and what influence this has on evolutionary processes within sexually reproducing organisms. Here, we explore the patterns of, and processes governing recombination in eukaryotes. We summarize patterns of variation, integrating current knowledge with an analysis of linkage map data in 353 organisms. We then discuss proximate and ultimate processes governing recombination rate variation and consider how these influence evolutionary processes. Genome-wide recombination rates (cM/Mb) can vary more than tenfold across eukaryotes, and there is large variation in the distribution of recombination events across closely related taxa, populations and individuals. We discuss how variation in rate and distribution relates to genome architecture, genetic and epigenetic mechanisms, sex, environmental perturbations and variable selective pressures. There has been great progress in determining the molecular mechanisms governing recombination, and with the continued development of new modelling and empirical approaches, there is now also great opportunity to further our understanding of how and why recombination rate varies. This article is part of the themed issue ‘Evolutionary causes and consequences of recombination rate variation in sexual organisms’.

Extreme Differences in Recombination Rate between the Genomes of a Solitary and a Social Bee

2019 ◽  
Vol 36 (10) ◽  
pp. 2277-2291 ◽  
Author(s):  
Julia C Jones ◽  
Andreas Wallberg ◽  
Matthew J Christmas ◽  
Karen M Kapheim ◽  
Matthew T Webster
Keyword(s):  
Recombination Rate ◽  
Rate Variation ◽  
Sequencing Data ◽  
Recombination Rates ◽  
Evolution Of Sociality ◽  
Leafcutter Bee ◽  
Selection For ◽  
Worker Caste ◽  
Recombination Rate Variation ◽  
Genomic Recombination

Abstract Social insect genomes exhibit the highest rates of crossing over observed in plants and animals. The evolutionary causes of these extreme rates are unknown. Insight can be gained by comparing recombination rate variation across the genomes of related social and solitary insects. Here, we compare the genomic recombination landscape of the highly social honey bee, Apis mellifera, with the solitary alfalfa leafcutter bee, Megachile rotundata, by analyzing patterns of linkage disequilibrium in population-scale genome sequencing data. We infer that average recombination rates are extremely elevated in A. mellifera compared with M. rotundata. However, our results indicate that similar factors control the distribution of crossovers in the genomes of both species. Recombination rate is significantly reduced in coding regions in both species, with genes inferred to be germline methylated having particularly low rates. Genes with worker-biased patterns of expression in A. mellifera and their orthologs in M. rotundata have higher than average recombination rates in both species, suggesting that selection for higher diversity in genes involved in worker caste functions in social taxa is not the explanation for these elevated rates. Furthermore, we find no evidence that recombination has modulated the efficacy of selection among genes during bee evolution, which does not support the hypothesis that high recombination rates facilitated positive selection for new functions in social insects. Our results indicate that the evolution of sociality in insects likely entailed selection on modifiers that increased recombination rates genome wide, but that the genomic recombination landscape is determined by the same factors.

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