Gunes Sezgin Ozgur, Metin Mahmutoglu Asli, Agarwal Ashok
Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Department of Multidisciplinary Molecular Medicine, Ondokuz Mayis University, Health Science Institute, Samsun, Turkey.
Birth Defects Res C Embryo Today. 2016 Dec;108(4):321-336. doi: 10.1002/bdrc.21146.
Sex determination is a complex and dynamic process with multiple genetic and environmental causes, in which germ and somatic cells receive various sex-specific features. During the fifth week of fetal life, the bipotential embryonic gonad starts to develop in humans. In the bipotential gonadal tissue, certain cell groups start to differentiate to form the ovaries or testes. Despite considerable efforts and advances in identifying the mechanisms playing a role in sex determination and differentiation, the underlying mechanisms of the exact functions of many genes, gene-gene interactions, and epigenetic modifications that are involved in different stages of this cascade are not completely understood. This review aims at discussing current data on the genetic effects via genes and epigenetic mechanisms that affect the regulation of sex determination. Birth Defects Research (Part C) 108:321-336, 2016. © 2016 Wiley Periodicals, Inc.
性别决定是一个复杂且动态的过程，由多种遗传和环境因素导致，在此过程中生殖细胞和体细胞会获得各种性别特异性特征。在胎儿期的第五周，人类双潜能胚胎性腺开始发育。在双潜能性腺组织中，某些细胞群开始分化形成卵巢或睾丸。尽管在确定性别决定和分化过程中发挥作用的机制方面付出了巨大努力并取得了进展，但对于参与这一过程不同阶段的许多基因的确切功能、基因-基因相互作用以及表观遗传修饰的潜在机制，我们尚未完全理解。本综述旨在讨论有关通过基因和表观遗传机制影响性别决定调控的遗传效应的现有数据。《出生缺陷研究（C部分）》108:321 - 336, 2016年。© 2016威利期刊公司。
