Department of Medicine, University of Vermont, 89 Beaumont Ave, Burlington, VT 05405 USA.
Department of Medicine, University of Vermont, 89 Beaumont Ave, Burlington, VT 05405 USA ; Department of Pathology, University of Vermont, 89 Beaumont Ave, Burlington, VT 05405 USA ; University of Vermont, Given Medical Building C317, Burlington, VT 05405 USA.
Biol Sex Differ. 2015 Mar 13;6:6. doi: 10.1186/s13293-015-0024-z. eCollection 2015.
Sexually dimorphic traits arise through the combined effects of sex hormones and sex chromosomes on sex-biased gene expression, and experimental mouse models have been instrumental in determining their relative contribution in modulating sex differences. A role for the Y chromosome (ChrY) in mediating sex differences outside of development and reproduction has historically been overlooked due to its unusual genetic composition and the predominant testes-specific expression of ChrY-encoded genes. However, ample evidence now exists supporting ChrY as a mediator of other physiological traits in males, and genetic variation in ChrY has been linked to several diseases, including heart disease, cancer, and autoimmune diseases in experimental animal models, as well as humans. The genetic and molecular mechanisms by which ChrY modulates phenotypic variation in males remain unknown but may be a function of copy number variation between homologous X-Y multicopy genes driving differential gene expression. Here, we review the literature identifying an association between ChrY polymorphism and phenotypic variation and present the current evidence depicting the mammalian ChrY as a member of the regulatory genome in males and as a factor influencing paternal parent-of-origin effects in female offspring.
性二态特征是由性激素和性染色体对性别偏向基因表达的综合作用产生的，实验小鼠模型在确定它们在调节性别差异方面的相对贡献方面发挥了重要作用。由于其异常的遗传组成和 ChrY 编码基因在睾丸中的主要表达，ChrY（性染色体 Y）在发育和生殖以外的性别差异中的中介作用在历史上一直被忽视。然而，现在有大量证据支持 ChrY 作为男性其他生理特征的中介，ChrY 的遗传变异与几种疾病有关，包括心脏病、癌症和自身免疫性疾病，在实验动物模型以及人类中。ChrY 调节男性表型变异的遗传和分子机制尚不清楚，但可能是同源 X-Y 多拷贝基因之间的拷贝数变异驱动差异基因表达的功能。在这里，我们回顾了文献中鉴定 ChrY 多态性与表型变异之间关联的内容，并提出了当前的证据，描述了哺乳动物 ChrY 作为雄性调节基因组的一部分，以及作为影响雌性后代父本亲源效应的因素。
