scholarly journals Variation in recombination rate and its genetic determinism in sheep (Ovis Aries) populations from combining multiple genome-wide datasets

2017 ◽  
Author(s):  
Morgane Petit ◽  
Jean-Michel Astruc ◽  
Julien Sarry ◽  
Laurence Drouilhet ◽  
Stéphane Fabre ◽  
...  
Keyword(s):  
Meiotic Recombination ◽  
Individual Variation ◽  
Recombination Rate ◽  
Snp Array ◽  
Genetic Determinism ◽  
Ovis Aries ◽  
Domestic Sheep ◽  
Recombination Rates ◽  
Male Recombination ◽  
Genome Wide

AbstractRecombination is a complex biological process that results from a cascade of multiple events during meiosis. Understanding the genetic determinism of recombination can help to understand if and how these events are interacting. To tackle this question, we studied the patterns of recombination in sheep, using multiple approaches and datasets. We constructed male recombination maps in a dairy breed from the south of France (the Lacaune breed) at a fine scale by combining meiotic recombination rates from a large pedigree genotyped with a 50K SNP array and historical recombination rates from a sample of unrelated individuals genotyped with a 600K SNP array. This analysis revealed recombination patterns in sheep similar to other mammals but also genome regions that have likely been affected by directional and diversifying selection. We estimated the average recombination rate of Lacaune sheep at 1.5 cM/Mb, identified about 50,000 crossover hotspots on the genome and found a high correlation between historical and meiotic recombination rate estimates. A genome-wide association study revealed two major loci affecting inter-individual variation in recombination rate in Lacaune, including the RNF212 and HEI10 genes and possibly 2 other loci of smaller effects including the KCNJ15 and FSHR genes. Finally, we compared our results to those obtained previously in a distantly related population of domestic sheep, the Soay. This comparison revealed that Soay and Lacaune males have a very similar distribution of recombination along the genome and that the two datasets can be combined to create more precise male meiotic recombination maps in sheep. Despite their similar recombination maps, we show that Soay and Lacaune males exhibit different heritabilities and QTL effects for inter-individual variation in genome-wide recombination rates.

scholarly journals Sex-Specific Evolution of the Genome-wide Recombination Rate

2020 ◽  
Author(s):  
April L. Peterson ◽  
Bret A. Payseur
Keyword(s):  
Recombination Rate ◽  
Rapid Evolution ◽  
Double Strand Breaks ◽  
Crossing Over ◽  
Recombination Rates ◽  
Male Recombination ◽  
Strand Breaks ◽  
Genome Wide ◽  
Primary Driver ◽  
Evolutionary Trajectories

ABSTRACTAlthough meiotic recombination is required for successful gametogenesis in most species that reproduce sexually, the rate of crossing over varies among individuals. Differences in recombination rate between females and males are perhaps the most striking form of this variation. To determine how sex shapes the evolution of recombination, we directly compared the genome-wide recombination rate in females and males across a common set of genetic backgrounds in house mouse. Our results reveal highly discordant evolutionary trajectories in the two sexes. Whereas male recombination rates show rapid evolution over short timescales, female recombination rates measured in the same strains are mostly static. Strains with high recombination in males have more double-strand breaks and stronger crossover interference than strains with low recombination in males, suggesting that these factors contribute to the sex-specific evolution we document. Our findings provide the strongest evidence yet that sex is a primary driver of recombination rate evolution.

Evolution and Plasticity of Genome-Wide Meiotic Recombination Rates

2021 ◽  
Vol 55 (1) ◽  
Author(s):  
Ian R. Henderson ◽  
Kirsten Bomblies
Keyword(s):  
Chromosome Segregation ◽  
Meiotic Recombination ◽  
Recombination Rate ◽  
Empirical Studies ◽  
Annual Review ◽  
Publication Date ◽  
Recombination Rates ◽  
Homologous Chromosomes ◽  
Genome Wide ◽  
Mechanistic Basis

Sex, as well as meiotic recombination between homologous chromosomes, is nearly ubiquitous among eukaryotes. In those species that use it, recombination is important for chromosome segregation during gamete production, and thus for fertility. Strikingly, although in most species only one crossover event per chromosome is required to ensure proper segregation, recombination rates vary considerably above this minimum and show variation within and among species. However, whether this variation in recombination is adaptive or neutral and what might shape it remain unclear. Empirical studies and theory support the idea that recombination is generally beneficial but can also have costs. Here, we review variation in genome-wide recombination rates, explore what might cause this, and discuss what is known about its mechanistic basis. We end by discussing the environmental sensitivity of meiosis and recombination rates, how these features may relate to adaptation, and their implications for a broader understanding of recombination rate evolution. Expected final online publication date for the Annual Review of Genetics, Volume 55 is November 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Higher Intercellular Variation in Genome-Wide Recombination Rate in Female Mice

2021 ◽  
pp. 1-7
Author(s):  
April L. Peterson ◽  
Bret A. Payseur
Keyword(s):  
Natural Selection ◽  
Sex Difference ◽  
Meiotic Recombination ◽  
Recombination Rate ◽  
Inbred Strains ◽  
House Mice ◽  
Mlh1 Focus ◽  
Female Mice ◽  
Genome Wide ◽  
Recombination Pathway

Meiotic recombination affects fertility, shuffles genomes, and modulates the effectiveness of natural selection. Despite conservation of the recombination pathway, the rate of recombination varies among individuals and along chromosomes. Recombination rate also differs among cells from the same organism, but this form of variation has received less attention. To identify patterns that characterize intercellular variation in the genome-wide recombination rate, we counted foci of the MLH1 recombination-associated protein in oocytes and spermatocytes from a panel of wild-derived inbred strains of house mice. Females show higher intercellular variation in MLH1 focus count than males from the same inbred strains. This pattern is consistent across strains from multiple subspecies, including 2 strains in which the average MLH1 focus count is higher in males. The sex difference in genome-wide recombination rate we report suggests that selection targeting recombination rate will be more efficient in males than in females.

scholarly journals Whole-Genome Selective Scans Detect Genes Associated With Important Phenotypic Traits in Sheep (Ovis aries)

2021 ◽  
Vol 12 ◽  
Author(s):  
Song-Song Xu ◽  
Lei Gao ◽  
Min Shen ◽  
Fenghua Lyu
Keyword(s):  
Body Size ◽  
Gene Annotation ◽  
Ovis Aries ◽  
Meat Production ◽  
Phenotypic Traits ◽  
Domestic Sheep ◽  
Snp Data ◽  
Genome Wide ◽  
Genetic Mechanisms ◽  
Production Body

Sheep (Ovis aries) is one of the important livestock with diverse phenotypic traits. However, little is known about the molecular mechanism of diverse phenotypic traits in domestic sheep. Using the genome-wide high-density SNP data (600K) in 253 samples from 13 populations, we conducted the tests of selective sweeps (i.e., pairwise FST and XP-CLR) associated with several important phenotypic traits (e.g., tail types, horn morphology, prolificacy, coat pigmentation, ear size, milk production, meat production, body size and wool fineness). We identified strong selective signatures in previously reported (e.g., T, RXFP2, BMPR1B, TYRP1, MSRB3, TF, CEBPA, GPR21 and HOXC8) and novel genes associated with the traits, such as CERS6, BTG1, RYR3, SLC6A4, NNAT and OGT for fat deposition in the tails, FOXO4 for fertility, PTCH1 and EMX2 for ear size, and RMI1 and SCD5 for body size. Further gene annotation analysis showed that these genes were identified to be the most probable genes accounting for the diverse phenotypic traits. Our results provide novel insights into the genetic mechanisms underlying the traits and also new genetic markers for genetic improvement in sheep and other livestock.

scholarly journals Role of cis, trans, and inbreeding effects on meiotic recombination in Saccharomyces cerevisiae

2018 ◽  
Author(s):  
Xavier Raffoux ◽  
Mickael Bourge ◽  
Fabrice Dumas ◽  
Olivier C. Martin ◽  
Matthieu Falque
Keyword(s):  
Saccharomyces Cerevisiae ◽  
High Throughput ◽  
Meiotic Recombination ◽  
Recombination Rate ◽  
Combining Ability ◽  
Sequence Similarity ◽  
Genetic Material ◽  
Recombination Rates ◽  
Important Species ◽  
High Throughput Method

ABSTRACTMeiotic recombination is a major driver of genome evolution by creating new genetic combinations. To probe the factors driving variability of meiotic recombination, we used a high-throughput method to measure recombination rates in 26 S. cerevisiae strains from different geographic origins and habitats. Fourteen intervals were monitored for each strain, covering chromosomes VI and XI entirely, and part of chromosome I. We found an average number of crossovers per chromosome ranging between 1.0 and 9.5 across strains (“domesticated” or not), which is higher than the average between 0.5 and 1.5 found in most organisms. In the different intervals analyzed, recombination showed up to 9-fold variation across strains but global recombination landscapes along chromosomes varied less. We also built an incomplete diallel experiment to measure recombination rates in one region of chromosome XI in 10 different crosses involving five parental strains. Our overall results indicate that recombination rate is increasingly positively correlated with sequence similarity between homologs (i) in DSB rich regions within intervals, (ii) in entire intervals, and (iii) at the whole genome scale. Therefore, these correlations cannot be explained by cis-effects only. In addition, by using a quantitative genetics analysis, we identified an inbreeding effect that reduces recombination rate in homozygous genotypes while other interaction effects (specific combining ability) or additive effects (general combining ability) are found to be weak. Finally, we measured significant crossover interference in some strains, and interference intensity was positively correlated with crossover number.Author SummaryMeiosis is a key process for sexually reproducing organisms by producing gametes with a halved set of genetic material. An essential step of meiosis is the formation of crossovers which are reciprocal exchanges of genetic material between chromosomes inherited from both parents. Crossovers ensure proper chromosome segregation and thus viable gametes. They also create novel genetic diversity which contributes to evolution and permits genetic improvement of agriculturally important species. Most living organisms produce between one and three crossovers per chromosome, and tight regulatory mechanisms control the number of crossovers and their distribution along chromosomes. In spite of their potential importance for biotechnological applications, such mechanisms are still poorly understood.Using a high throughput method based on fluorescent markers, we investigated the diversity of recombination in the budding yeast Saccharomyces cerevisiae. We observed up to 9-fold differences in numbers of crossovers across hybrids obtained by crossing different strains with a common tester, and this variation was correlated with the degree of DNA sequence similarity between homologous chromosomes. By also investigating homozygotes, we conclude that on the one hand too much sequence divergence impairs recombination in distantly-related hybrids, and on the other hand complete homozygosity is also associated with lower numbers of crossovers.

scholarly journals Genome-wide recombination map construction from single individuals using linked-read sequencing

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Andreea Dréau ◽  
Vrinda Venu ◽  
Elena Avdievich ◽  
Ludmila Gaspar ◽  
Felicity C. Jones
Keyword(s):  
Meiotic Recombination ◽  
Molecular Basis ◽  
Low Cost ◽  
Single Individual ◽  
Recombination Rates ◽  
Recombination Hotspots ◽  
Map Construction ◽  
Genome Wide ◽  
Genomic Location ◽  
Exciting Opportunity

Abstract Meiotic recombination rates vary across the genome, often involving localized crossover hotspots and coldspots. Studying the molecular basis and mechanisms underlying this variation has been challenging due to the high cost and effort required to construct individualized genome-wide maps of recombination crossovers. Here we introduce a new method, called ReMIX, to detect crossovers from gamete DNA of a single individual using Illumina sequencing of 10X Genomics linked-read libraries. ReMIX reconstructs haplotypes and identifies the valuable rare molecules spanning crossover breakpoints, allowing quantification of the genomic location and intensity of meiotic recombination. Using a single mouse and stickleback fish, we demonstrate how ReMIX faithfully recovers recombination hotspots and landscapes that have previously been built using hundreds of offspring. ReMIX provides a high-resolution, high-throughput, and low-cost approach to quantify recombination variation across the genome, providing an exciting opportunity to study recombination among multiple individuals in diverse organisms.

scholarly journals Variants at RNF212 and RNF212B are associated with recombination rate variation in Soay sheep (Ovis aries)

2020 ◽  
Author(s):  
Susan E. Johnston ◽  
Martin A. Stoffel ◽  
Josephine M. Pemberton
Keyword(s):  
Recombination Rate ◽  
Association Studies ◽  
Ovis Aries ◽  
Genome Wide Association ◽  
Rate Variation ◽  
Genome Wide Association Studies ◽  
Mammal Species ◽  
Soay Sheep ◽  
Genome Wide ◽  
Recombination Rate Variation

AbstractMeiotic recombination is a ubiquitous feature of sexual reproduction, ensuring proper disjunction of homologous chromosomes, and creating new combinations of alleles upon which selection can act. By identifying the genetic drivers of recombination rate variation, we can begin to understand its evolution. Here, we revisit an analysis investigating the genetic architecture of gamete autosomal crossover counts (ACC) in a wild population of Soay sheep (Ovis aries) using a much larger dataset (increasing from 3,300 to 7,235 gametes and from ∼39,000 to ∼415,000 SNPs for genome-wide association analysis). Animal models fitting genomic relatedness confirmed that ACC was heritable in both females (h2 = 0.18) and males (h2 = 0.12). Genome-wide association studies identified two regions associated with ACC variation. A region on chromosome 6 containing RNF212 explained 46% of heritable variation in female ACC, but was not associated with male ACC, confirming the previous finding. A region on chromosome 7 containing RNF212B explained 20-25% of variation in ACC in both males and females. Both RNF212 and RNF212B have been repeatedly associated with recombination rate in other mammal species. These findings confirm that moderate to large effect loci can underpin ACC variation in wild mammals, and provide a foundation for further studies on the evolution of recombination rates.

scholarly journals Sex-specific variation in the genome-wide recombination rate

Genetics ◽  
2020 ◽  
Vol 217 (1) ◽  
pp. 1-11
Author(s):  
April L Peterson ◽  
Bret A Payseur
Keyword(s):  
Sex Differences ◽  
Genetic Variation ◽  
Mus Musculus ◽  
Recombination Rate ◽  
Inbred Strains ◽  
Recombination Rates ◽  
Additional Species ◽  
Male Genome ◽  
Mus Musculus Musculus ◽  
Genome Wide

Abstract In most species that reproduce sexually, successful gametogenesis requires recombination during meiosis. The number and placement of crossovers (COs) vary among individuals, with females and males often presenting the most striking contrasts. Despite the recognition that the sexes recombine at different rates (heterochiasmy), existing data fail to answer the question of whether patterns of genetic variation in recombination rate are similar in the two sexes. To fill this gap, we measured the genome-wide recombination rate in both sexes from a panel of wild-derived inbred strains from multiple subspecies of house mice (Mus musculus) and from a few additional species of Mus. To directly compare recombination rates in females and males from the same genetic backgrounds, we applied established methods based on immunolocalization of recombination proteins to inbred strains. Our results reveal discordant patterns of genetic variation in the two sexes. Whereas male genome-wide recombination rates vary substantially among strains, female recombination rates measured in the same strains are more static. The direction of heterochiasmy varies within two subspecies, Mus musculus molossinus and Mus musculus musculus. The direction of sex differences in the length of the synaptonemal complex and CO positions is consistent across strains and does not track sex differences in genome-wide recombination rate. In males, contrasts between strains with high recombination rate and strains with low recombination rate suggest more recombination is associated with stronger CO interference and more double-strand breaks. The sex-specific patterns of genetic variation we report underscore the importance of incorporating sex differences into recombination research.

scholarly journals Negative heterosis for meiotic recombination rate in spermatocytes of the domestic chicken Gallus gallus

2021 ◽  
Vol 25 (6) ◽  
pp. 661-668
Author(s):  
L. P. Malinovskaya ◽  
K. V. Tishakova ◽  
T. I. Bikchurina ◽  
A. Yu. Slobodchikova ◽  
N. Yu. Torgunakov ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Meiotic Recombination ◽  
Recombination Rate ◽  
F1 Hybrids ◽  
Dna Breaks ◽  
Recombination Rates ◽  
Recombination Nodules ◽  
Double Strand Dna Breaks ◽  
Repair Protein ◽  
Benefits And Costs

Benefits and costs of meiotic recombination are a matter of discussion. Because recombination breaks allele combinations already tested by natural selection and generates new ones of unpredictable fitness, a high recombination rate is generally beneficial for the populations living in a fluctuating or a rapidly changing environment and costly in a stable environment. Besides genetic benefits and costs, there are cytological effects of recombination, both positive and negative. Recombination is necessary for chromosome synapsis and segregation. However, it involves a massive generation of double-strand DNA breaks, erroneous repair of which may lead to germ cell death or various mutations and chromosome rearrangements. Thus, the benefits of recombination (generation of new allele combinations) would prevail over its costs (occurrence of deleterious mutations) as long as the population remains sufficiently heterogeneous. Using immunolocalization of MLH1, a mismatch repair protein, at the synaptonemal complexes, we examined the number and distribution of recombination nodules in spermatocytes of two chicken breeds with high (Pervomai) and low (Russian Crested) recombination rates and their F1 hybrids and backcrosses. We detected negative heterosis for recombination rate in the F1 hybrids. Backcrosses to the Pervomai breed were rather homogenous and showed an intermediate recombination rate. The differences in overall recombination rate between the breeds, hybrids and backcrosses were mainly determined by the differences in the crossing over number in the seven largest macrochromosomes. The decrease in recombination rate in F1 is probably determined by difficulties in homology matching between the DNA sequences of genetically divergent breeds. The suppression of recombination in the hybrids may impede gene flow between parapatric populations and therefore accelerate their genetic divergence. 

scholarly journals Genome-Wide Association Study of Meiotic Recombination Phenotypes

2016 ◽  
Vol 6 (12) ◽  
pp. 3995-4007 ◽  
Author(s):  
Ferdouse Begum ◽  
Reshmi Chowdhury ◽  
Vivian G Cheung ◽  
Stephanie L Sherman ◽  
Eleanor Feingold
Keyword(s):  
Meiotic Recombination ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Snp Array ◽  
Genome Wide Association ◽  
Chromosome 17 ◽  
Genome Wide Association Studies ◽  
Regulatory Variants ◽  
Genome Wide ◽  
Meta Analyses

Abstract Meiotic recombination is an essential step in gametogenesis, and is one that also generates genetic diversity. Genome-wide association studies (GWAS) and molecular studies have identified genes that influence of human meiotic recombination. RNF212 is associated with total or average number of recombination events, and PRDM9 is associated with the locations of hotspots, or sequences where crossing over appears to cluster. In addition, a common inversion on chromosome 17 is strongly associated with recombination. Other genes have been identified by GWAS, but those results have not been replicated. In this study, using new datasets, we characterized additional recombination phenotypes to uncover novel candidates and further dissect the role of already known loci. We used three datasets totaling 1562 two-generation families, including 3108 parents with 4304 children. We estimated five different recombination phenotypes including two novel phenotypes (average recombination counts within recombination hotspots and outside of hotspots) using dense SNP array genotype data. We then performed gender-specific and combined-sex genome-wide association studies (GWAS) meta-analyses. We replicated associations for several previously reported recombination genes, including RNF212 and PRDM9. By looking specifically at recombination events outside of hotspots, we showed for the first time that PRDM9 has different effects in males and females. We identified several new candidate loci, particularly for recombination events outside of hotspots. These include regions near the genes SPINK6, EVC2, ARHGAP25, and DLGAP2. This study expands our understanding of human meiotic recombination by characterizing additional features that vary across individuals, and identifying regulatory variants influencing the numbers and locations of recombination events.

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