Abstract
In humans, males have lower recombination rates than females over the majority of the genome, but the opposite is usually true near the telomeres. These broad-scale differences have been known for decades, yet little is known about differences at the fine scale. By combining data sets, we have collected recombination events from over 100,000 meioses and have constructed sex-specific genetic maps at a previously unachievable resolution. Here we show that, although a substantial fraction of the genome shows some degree of sexually dimorphic recombination, the vast majority of hotspots are shared between the sexes, with only a small number of putative sex-specific hotspots. Wavelet analysis indicates that most of the differences can be attributed to the fine scale, and that variation in rate between the sexes can mostly be explained by differences in hotspot magnitude, rather than location. Nonetheless, known recombination-associated genomic features, such as THE1B repeat elements, show systematic differences between the sexes.
Highlights
In humans, males have lower recombination rates than females over the majority of the genome, but the opposite is usually true near the telomeres
The vast majority of meioses are derived from individuals of European ancestry, representing 93.7% of all meioses, and 6.3% are from other origins including African American (1.6%), East Asian (1.8%) and Latino American (1.5%) (Supplementary Table 1)
We constructed high-resolution female and male maps, by modelling the recombination rate in each inter-single nucleotide polymorphism (SNPs) interval using a Bayesian Markov Chain Monte Carlo (MCMC) procedure based on the assumption that the fine-scale recombination rate is similar across individuals of a given sex (Methods and Supplementary Methods)
Summary
Males have lower recombination rates than females over the majority of the genome, but the opposite is usually true near the telomeres. Male autosomal recombination rates tend to be lower than female rates over the majority of the genome, but tend to be elevated towards to the telomeres[1,2,5] While these broad-scale differences have been known for decades, the fine-scale differences in recombination between the sexes remain to be fully characterized. Previous large-scales studies of recombination have characterized differences between females and males[2,4], and identified a number of variants associated with sex-specific recombination rates[2,6,7,8,9,10]. We build new sex-specific genetic maps based on crossovers from more than 100,000 meioses obtained from published pedigree studies These maps reveal the variation of recombination rates in females and males throughout the genome at an unprecedented resolution. We show that female and male differences in recombination rate can be mainly attributable to the fine scale, and find sexually dimorphic patterns of recombination in THE1B elements and gene promoter regions
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