Waters Paul D, Wallis Mary C, Marshall Graves Jennifer A
Comparative Genomics Group, Research School of Biological Sciences, The Australian National University, GPO Box 475, ACT 2601, Canberra, Australia.
Semin Cell Dev Biol. 2007 Jun;18(3):389-400. doi: 10.1016/j.semcdb.2007.02.007. Epub 2007 Feb 24.
Sex determination in vertebrates is accomplished through a highly conserved genetic pathway. But surprisingly, the downstream events may be activated by a variety of triggers, including sex determining genes and environmental cues. Amongst species with genetic sex determination, the sex determining gene is anything but conserved, and the chromosomes that bear this master switch subscribe to special rules of evolution and function. In mammals, with a few notable exceptions, female are homogametic (XX) and males have a single X and a small, heterochromatic and gene poor Y that bears a male dominant sex determining gene SRY. The bird sex chromosome system is the converse in that females are the heterogametic sex (ZW) and males the homogametic sex (ZZ). There is no SRY in birds, and the dosage-sensitive Z-borne DMRT1 gene is a credible candidate sex determining gene. Different sex determining switches seem therefore to have evolved independently in different lineages, although the complex sex chromosomes of the platypus offer us tantalizing clues that the mammal XY system may have evolved directly from an ancient reptile ZW system. In this review we will discuss the organization and evolution of the sex chromosomes across a broad range of mammals, and speculate on how the Y chromosome, and SRY, evolved.
脊椎动物的性别决定是通过一条高度保守的遗传途径完成的。但令人惊讶的是,下游事件可能由多种触发因素激活,包括性别决定基因和环境线索。在具有遗传性别决定的物种中,性别决定基因远非保守,携带这个主控开关的染色体遵循特殊的进化和功能规则。在哺乳动物中,除了少数显著的例外,雌性是同配性别(XX),而雄性有一条单一的X染色体和一条小的、异染色质且基因贫乏的Y染色体,Y染色体上携带一个雄性主导的性别决定基因SRY。鸟类的性染色体系统则相反,雌性是异配性别(ZW),雄性是同配性别(ZZ)。鸟类中没有SRY,而剂量敏感的Z连锁DMRT1基因是一个可信的性别决定基因候选者。因此,不同的性别决定开关似乎在不同的谱系中独立进化,尽管鸭嘴兽复杂的性染色体为我们提供了诱人的线索,表明哺乳动物的XY系统可能直接从古老的爬行动物ZW系统进化而来。在这篇综述中,我们将讨论广泛的哺乳动物中性染色体的组织和进化,并推测Y染色体和SRY是如何进化的。