A REGULATORY CASCADE HYPOTHESIS FOR MAMMALIAN SEX DETERMINATION - SRY REPRESSES A NEGATIVE REGULATOR OF MALE DEVELOPMENT
A REGULATORY CASCADE HYPOTHESIS FOR MAMMALIAN SEX DETERMINATION - SRY REPRESSES A NEGATIVE REGULATOR OF MALE DEVELOPMENT
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DOI：
10.1073/pnas.90.8.3368
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发表时间：
1993-04-15
影响因子：
11.1
通讯作者：
FELLOUS, M
中科院分区：
文献类型：
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作者：
MCELREAVEY, K;VILAIN, E;FELLOUS, M
哺乳动物Y染色体携带SRY基因，决定睾丸的形成。在这里，我们回顾了XX但表现出男性特征的个体的数据：一些人有SRY，另一些人没有。我们已经分析了三个家庭包含一个以上的这样的个人，并表明，这些人缺乏SRY。系谱分析导致的假设，他们携带隐性突变（在一个基因称为Z），允许表达的裸体特征。我们提出野生型Z产物是雄性性别决定的负调节因子，并且在野生型雌性中起作用。在男性中，SRY产物抑制或以其他方式负调节Z，从而允许男性性别决定。这一假说也可以解释哺乳动物中其他类型的性反转，特别是含有SRY基因的XY雌性。这些个体中的一些可能在Z位点发生突变，使其对SRY不敏感。导致性别逆转的隐性突变（如山羊的无角突变）在许多动物中都是已知的，可能用于绘制并最终克隆人类Z基因。
The mammalian Y chromosome carries the SRY gene, which determines testis formation. Here we review data on individuals who are XX but exhibit male characteristics: some have SRY; others do not. We have analyzed three families containing more than one such individual and show that these individuals lack SRY. Pedigree analysis leads to the hypothesis that they carry recessive mutations (in a gene termed Z) that allow expression of nude characteristics. We propose that wild-type Z product is a negative regulator of male sex determination and is functional in wild-type females. In males, SRY product represses or otherwise negatively regulates Z and thereby allows male sex determination. This hypothesis can also explain other types of sex reversal in mammals, in particular, XY females containing SRY. Some of these individuals may have mutations at the Z locus rendering them insensitive to SRY. Recessive mutations (such as the polled mutation of goats) leading to sex reversal are known in a variety of animals and might be used to map and ultimately clone the human Z gene.