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牛 X 染色体重组率个体变异的遗传结构。

Genetic architecture of individual variation in recombination rate on the X chromosome in cattle.

机构信息

Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.

Animal Genomics, Institute of Agricultural Science, ETH Zürich, Zürich, Switzerland.

出版信息

Heredity (Edinb). 2020 Nov;125(5):304-316. doi: 10.1038/s41437-020-0341-9. Epub 2020 Jul 10.

DOI:10.1038/s41437-020-0341-9
PMID:32651548
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7553937/
Abstract

Meiotic recombination is an essential biological process that ensures proper chromosome segregation and creates genetic diversity. Individual variation in global recombination rates has been shown to be heritable in several species, and variants significantly associated with this trait have been identified. Recombination on the sex chromosome has often been ignored in these studies although this trait may be particularly interesting as it may correspond to a biological process distinct from that on autosomes. For instance, recombination in males is restricted to the pseudo-autosomal region (PAR). We herein used a large cattle pedigree with more than 100,000 genotyped animals to improve the genetic map of the X chromosome and to study the genetic architecture of individual variation in recombination rate on the sex chromosome (XRR). The length of the genetic map was 46.4 and 121.2 cM in males and females, respectively, but the recombination rate in the PAR was six times higher in males. The heritability of CO counts on the X chromosome was comparable to that of autosomes in males (0.011) but larger than that of autosomes in females (0.024). XRR was highly correlated (0.76) with global recombination rate (GRR) in females, suggesting that both traits might be governed by shared variants. In agreement, a set of eleven previously identified variants associated with GRR had correlated effects on female XRR (0.86). In males, XRR and GRR appeared to be distinct traits, although more accurate CO counts on the PAR would be valuable to confirm these results.

摘要

减数分裂重组是一个重要的生物学过程,它确保了染色体的正确分离和遗传多样性的产生。在多个物种中,个体间的全球重组率差异具有遗传性,并且已经确定了与该特征显著相关的变体。尽管在这些研究中,性染色体上的重组通常被忽略了,但这个特征可能特别有趣,因为它可能对应于与常染色体上不同的生物学过程。例如,雄性中的重组仅限于假常染色体区(PAR)。我们在此使用了一个包含超过 100,000 个已基因分型动物的大型牛家谱,以提高 X 染色体的遗传图谱,并研究性染色体(XRR)上重组率个体变异的遗传结构。雄性和雌性的遗传图谱长度分别为 46.4 和 121.2 cm,但 PAR 中的重组率在雄性中高 6 倍。X 染色体上 CO 计数的遗传力与雄性常染色体上的 CO 计数(0.011)相当,但大于雌性常染色体上的 CO 计数(0.024)。XRR 与雌性中的全球重组率(GRR)高度相关(0.76),这表明这两个特征可能由共同的变体控制。一致地,一组以前与 GRR 相关的 11 个变体对雌性 XRR 具有相关影响(0.86)。在雄性中,XRR 和 GRR 似乎是不同的特征,尽管在 PAR 上进行更准确的 CO 计数将有助于证实这些结果。

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本文引用的文献

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Conservation of the genome-wide recombination rate in white-footed mice.保持白足鼠基因组范围内的重组率。
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Construction of Genetic Linkage Maps in Multiparental Populations.构建多亲本群体的遗传连锁图谱。
Genetics. 2019 Aug;212(4):1031-1044. doi: 10.1534/genetics.119.302229. Epub 2019 Jun 10.
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Short communication: Identification of the pseudoautosomal region in the Hereford bovine reference genome assembly ARS-UCD1.2.短讯:赫里福德牛参考基因组组装 ARS-UCD1.2 中的假常染色体区域的鉴定。
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