Y genetic variation and phenotypic diversity in health and disease.
Y genetic variation and phenotypic diversity in health and disease.
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DOI：
10.1186/s13293-015-0024-z
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发表时间：
2015
影响因子：
7.9
通讯作者：
Teuscher C
中科院分区：
文献类型：
--
作者：
Case LK;Teuscher C
两性二态性状是通过性激素和性染色体对性别偏倚基因表达的综合影响而产生的，实验小鼠模型有助于确定它们在调节性别差异方面的相对贡献。由于其不寻常的遗传组成和主要的睾丸特异性表达，Y染色体（ChrY）在发育和生殖之外调解性别差异的作用一直被忽视。然而，现在有充分的证据支持ChrY作为男性其他生理性状的中介，并且在实验动物模型和人类中，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。ChrY调节雄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多拷贝基因之间拷贝数变异的功能，驱动差异基因表达。在此，我们回顾了有关ChrY多态性与表型变异之间关系的文献，并提出了目前的证据，表明哺乳动物ChrY是雄性调节基因组的成员，也是影响雌性后代父本起源效应的一个因素。
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.
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影响因子：
4.8
作者：
Chen, Xuqi;McClusky, Rebecca;Arnold, Arthur P.
通讯作者：
Arnold, Arthur P.
影响因子：
64.5
作者：
Carone BR;Fauquier L;Habib N;Shea JM;Hart CE;Li R;Bock C;Li C;Gu H;Zamore PD;Meissner A;Weng Z;Hofmann HA;Friedman N;Rando OJ
通讯作者：
Rando OJ
影响因子：
4.5
作者：
Cocquet J;Ellis PJ;Mahadevaiah SK;Affara NA;Vaiman D;Burgoyne PS
通讯作者：
Burgoyne PS
癌症死亡率和生存中的性别差异。
DOI：
10.1158/1055-9965.epi-11-0246
发表时间：
2011-08
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Cook MB;McGlynn KA;Devesa SS;Freedman ND;Anderson WF
通讯作者：
Anderson WF
影响因子：
64.8
作者：
通讯作者：
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