Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.
Genes (Basel). 2022 Dec 9;13(12):2322. doi: 10.3390/genes13122322.
Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. TRD was analyzed on 3832 heterosomal single nucleotide polymorphisms (SNPs) and 400 pseudoautosomal SNPs spanning the length of the X-chromosome using 436,651 genotyped Holstein cattle. On the pseudoautosomal region, an opposite sire-TRD pattern between male and female offspring was identified for 149 SNPs. This finding revealed unique SNPs linked to a specific-sex (Y- or X-) chromosome and describes the accumulation of recombination events across the pseudoautosomal region. On the heterosomal region, 13 SNPs and 69 haplotype windows were identified with dam-TRD. Functional analyses for TRD regions highlighted relevant biological functions responsible to regulate spermatogenesis, development of Sertoli cells, homeostasis of endometrium tissue and embryonic development. This study uncovered the prevalence of different TRD patterns across both heterosomal and pseudoautosomal regions of the X-chromosome and revealed functional candidate genes for bovine reproduction.
传递率失真(TRD),或明显偏离孟德尔遗传,是常染色体上研究得很好的现象,但在性染色体上尚未受到关注。使用 436651 个荷斯坦奶牛基因型,对 3832 个异染色体单核苷酸多态性(SNP)和 400 个假常染色体 SNP 进行了 TRD 分析。在假常染色体区域,149 个 SNP 确定了父本-TRD 模式在雄性和雌性后代之间相反。这一发现揭示了与特定性(Y 或 X-)染色体相关的独特 SNP,并描述了跨假常染色体区域重组事件的积累。在异染色体区域,确定了 13 个 SNP 和 69 个单倍型窗口存在母本-TRD。TRD 区域的功能分析强调了与调节精子发生、支持细胞发育、子宫内膜组织稳态和胚胎发育相关的重要生物学功能。本研究揭示了 X 染色体异染色体和假常染色体区域存在不同的 TRD 模式,并揭示了牛繁殖的功能候选基因。