Affara N A, Mitchell M J
Department of Pathology, University of Cambridge, UK.
J Endocrinol Invest. 2000 Nov;23(10):630-45. doi: 10.1007/BF03343787.
It was suggested by Ronald Fisher in 1931 that genes involved in benefit to the male (including spermatogenesis genes) would accumulate on the Y chromosome. The analysis of mouse Y chromosome deletions and the discovery of microdeletions of the human Y chromosome associated with diverse defective spermatogenic phenotypes has revealed the presence of intervals containing one or more genes controlling male germ cell differentiation. These intervals have been mapped, cloned and examined in detail for functional genes. This review discusses the genes mapping to critical spermatogenesis intervals and the evidence indicating which are the most likely candidates underlying Y-linked male infertility.
1931年,罗纳德·费希尔提出,对雄性有益的基因(包括精子发生基因)会在Y染色体上积累。对小鼠Y染色体缺失的分析以及与多种缺陷性精子发生表型相关的人类Y染色体微缺失的发现,揭示了存在包含一个或多个控制雄性生殖细胞分化基因的区间。这些区间已被定位、克隆并详细检查其中的功能基因。本综述讨论了定位于关键精子发生区间的基因,以及表明哪些是Y连锁男性不育最可能潜在候选基因的证据。