Abstract
We use >250,000 cross-over events identified in >10,000 bovine sperm cells to perform an extensive characterization of meiotic recombination in male cattle. We map Quantitative Trait Loci (QTL) influencing genome-wide recombination rate, genome-wide hotspot usage, and locus-specific recombination rate. We fine-map three QTL and present strong evidence that genetic variants in REC8 and RNF212 influence genome-wide recombination rate, while genetic variants in PRDM9 influence genome-wide hotspot usage.
Highlights
Reciprocal recombination between homologues fulfills an essential mechanistic role during meiosis in most organisms [1,2]
Genome-wide recombination rate (GRR) is characterized by considerable inter-individual variation, which is in part inherited [7,8,9,10]
We take advantage of genotypes for 50,000 genome-wide SNP markers to measure four recombination phenotypes for .750 bulls on the basis of .250,000 cross-overs detected in sperm cells transmitted to .10,000 sons
Summary
Reciprocal recombination between homologues fulfills an essential mechanistic role during meiosis in most organisms [1,2]. Hotspot usage differs considerably between individuals [17] and this was shown to involve variation in cis-acting hotspot-triggering sequences [18], as well as in the trans-acting PRDM9 H3K4 trimethyltransferase and hotspot regulator [19,20,21,22] Recombination hotspots and their PRDM9 regulator undergo accelerated evolution (explained in part by the self-destructive drive of hotspot motifs due to biased gene conversion) [18,21,23,24], and PRDM9 has been identified as a hybrid sterility gene in the mouse [25]. Genome-wide levels of cross-over interference were suggested to differ between individuals [26,27], but corresponding genetic variants – if existing - have not been identified far
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