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哺乳动物性染色体(X和Y)从常染色体进化而来并参与性别决定和生殖特性。Y染色体是最小的染色体,在进化过程中,许多限雄基因被删除。Y染色体基因点突变或缺失可导致男性不育和/或男性生育力下降。比如Y连锁基因性别决定区域的丢失或微缺失,可导致XY男性展现女性特征;Y染色体无精子症因子b区域丢失RNA结合基序导致精子发生停滞在减数分裂期。另外Y染色体丢失及Y染色体基因的异位表达与各种男性疾病密切相关,包括一些体细胞癌。由于缺少体内模型以及Y染色体在人类和啮齿动物间的差异,Y染色体基因对人类疾病的影响还存在很多未知的情况。本综述主要讨论Y染色体基因以及它们在男性不育和肿瘤发展中的功能。
Mammalian sex chromosomes (X and Y) evolved from autosomes and are involved in sex determination and reproductive traits. Y chromosome is the smallest chromosome in the evolutionary process, many of the male gene was deleted. Point mutations or deletions of Y chromosome genes can lead to male infertility and / or decreased male fertility. For example, the loss or microdeletion of the sex determination region of the Y-linked gene can lead to the appearance of female sex in XY males. The loss of RNA-binding motif in region b of the Y-chromosome azoospermia causes spermatogenesis to stagnate during meiosis. In addition Y chromosome loss and Y chromosome gene ectopic expression and a variety of male diseases are closely related, including some somatic cell carcinoma. Due to the lack of in vivo models and the differences in the Y chromosome between humans and rodents, there are many unknown conditions in which the Y chromosome affects human disease. This review focuses on the Y chromosome genes and their role in male infertility and tumor development.