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Male recombination map of the autosomal genome in German Holstein

机译:纯血型基因组的男性重组图在德国荷斯坦

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Recombination 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 ( $$heta$$ ) 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. Genome-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 $$heta$$ 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. Given 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.
机译:重组是染色体破裂并重新组合以产生新的等位基因组合的过程,因此在塑造基因组变异方面发挥了重要作用。标记之间的重组频率($$ THETA $$)用于构建基因组研究具有重要意义的基因图。在这里,根据最新牛参考组件的坐标报告44,696常血型单核苷酸多态性(SNP)的重组图。在876个半SIB家族中估计重组频率,最小数量为39,最大数量为4236个后代,包含超过367k基因分型德国Holstein动物。通过研究相邻标志物来鉴定基因组,超过890万父亲重组事件。重组地图跨越24.43摩根(M),染色体长度为2486MBp,平均为〜0.98cm / mbp,这与可用的基于血基的联系地图相应。此外,我们确定了971个推定的重组热点间隔(定义为$$> 2.5标准偏差大于平均值)。热点区域不均匀分布为尖锐且窄的峰,对应于仅在基因组的〜2.4%的重组中进行的〜5.8%。通过应用基于可能的方法来验证遗传图长度,以估计所有染色体 - 染色体 - 染色体标记对之间的重组率。这导致雄性牛(25.35cm)的常血型遗传长度,并且在基因组组件中的51个令人缺失的SNP的定位。鉴于该地图建立在ARS-UCD1.2组件的坐标上,我们的结果提供了最新的遗传图谱,可用于牛基因组。

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