Abstract

BackgroundRecombination is a process by which chromosomes are broken and recombine to generate new combinations of alleles, therefore playing a major role in shaping genome variation. Recombination frequencies (theta) between markers are used to construct genetic maps, which have important implications in genomic studies. Here, we report a recombination map for 44,696 autosomal single nucleotide polymorphisms (SNPs) according to the coordinates of the most recent bovine reference assembly. The recombination frequencies were estimated across 876 half-sib families with a minimum number of 39 and maximum number of 4236 progeny, comprising over 367 K genotyped German Holstein animals.ResultsGenome-wide, over 8.9 million paternal recombination events were identified by investigating adjacent markers. The recombination map spans 24.43 Morgan (M) for a chromosomal length of 2486 Mbp and an average of ~ 0.98 cM/Mbp, which concords with the available pedigree-based linkage maps. Furthermore, we identified 971 putative recombination hotspot intervals (defined as theta > 2.5 standard deviations greater than the mean). The hotspot regions were non-uniformly distributed as sharp and narrow peaks, corresponding to ~ 5.8% of the recombination that has taken place in only ~ 2.4% of the genome. We verified genetic map length by applying a likelihood-based approach for the estimation of recombination rate between all intra-chromosomal marker pairs. This resulted in a longer autosomal genetic length for male cattle (25.35 cM) and in the localization of 51 putatively misplaced SNPs in the genome assembly.ConclusionsGiven the fact that this map is built on the coordinates of the ARS-UCD1.2 assembly, our results provide the most updated genetic map yet available for the cattle genome.

Highlights

  • Recombination is a process by which chromosomes are broken and recombine to generate new combinations of alleles, playing a major role in shaping genome variation

  • The novelty of our findings is twofold: (1) given the fact that this study uses the coordinates of the ARS-UCD1.2 assembly, it presents the most updated genetic map yet available for the cattle genome; and (2) we evaluate estimates of recombination rate between intra-chromosomal single nucleotide polymorphisms (SNPs) pairs to identify misplaced markers

  • We present a bovine genetic map with a medium SNP density resolution based on a large pedigree of German Holstein animals

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Summary

Introduction

Recombination is a process by which chromosomes are broken and recombine to generate new combinations of alleles, playing a major role in shaping genome variation. Recombination frequencies ( θ ) between markers are used to construct genetic maps, which have important implications in genomic studies. Haplotypes possess specific genetic features, and play a major role in shaping genome variation. Given the controlled mating scheme in commercial animals, the primary strategy for the analysis of recombination has been through pedigree to benefit from the fully recorded genealogies. Such an approach traces transmission of haplotypes between pairs of loci

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