Sex reversal caused by Mus musculus domesticus Y chromosomes linked to variant expression of the testis-determining gene Sry.
Sex reversal caused by Mus musculus domesticus Y chromosomes linked to variant expression of the testis-determining gene Sry.
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DOI：
10.1006/dbio.1999.9436
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发表时间：
1999-12
影响因子：
2.7
通讯作者：
Claude M. Nagamine;Ken-ichirou Morohashi;C. Carlisle;Dennis K. Chang
中科院分区：
文献类型：
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作者：
Claude M. Nagamine;Ken-ichirou Morohashi;C. Carlisle;Dennis K. Chang
当来自某些种群的小家鼠的Y染色体被引入到小鼠品系C57 BL/6（B6）中时，睾丸决定可能失败，导致性腺发育为卵睾丸（具有卵巢和睾丸成分）或卵巢。并非所有的Y（DOM）染色体都会导致性反转。Y（DOM）染色体根据其在B6中诱导睾丸的能力分为三类。Y（DOM）三个类别的分子基础是一个谜。最简单的解释是，它们携带着睾丸决定基因Sry的不同等位基因。Sry（DOM）基因测序确实发现了多态性。然而，没有一个与性别逆转特征明确相关。由此得出结论，所有SRY（DOM）蛋白在功能上是等同的。使用半定量RT-PCR分析，我们现在表明，代表三个Y（DOM）类有不同的Sry表达模式，性反转的严重程度与Sry mRNA滴度相关，以及性反转的遗传校正导致Sry表达上调。我们建议，变体Sry表达模式的结果从多态性在一个假定的Sry增强子的网站。
When the Y chromosomes from certain populations of Mus musculus domesticus are introduced into the mouse strain C57BL/6 (B6), testis determination can fail, resulting in gonads developing either as ovotestes (with both ovarian and testicular components) or as ovaries. Not all Y(DOM) chromosomes cause sex reversal. Y(DOM) chromosomes are divided into three classes based upon their ability to induce testes in B6. The molecular basis underlying the three Y(DOM) classes is an enigma. The simplest explanation is that they harbor different alleles of the testis-determining gene, Sry. Sequencing of Sry(DOM) genes has indeed identified polymorphisms. However, none were unequivocally linked to the sex-reversal trait. It was concluded that all SRY(DOM) proteins are functionally equivalent. Using a semiquantitative RT-PCR assay, we now show that representatives of the three Y(DOM) classes have variant Sry expression patterns, that severity of sex reversal correlates with Sry mRNA titers, and that genetic correction of the sex reversal results in the upregulation of Sry expression. We propose that the variant Sry expression patterns result from polymorphisms at the site of a putative Sry enhancer.