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小鼠正常睾丸的形成取决于17号染色体上一个基因座与Y染色体之间的基因相互作用。

Normal testis determination in the mouse depends on genetic interaction of a locus on chromosome 17 and the Y chromosome.

作者信息

Washburn L L, Eicher E M

机构信息

Jackson Laboratory, Bar Harbor, Maine 04609.

出版信息

Genetics. 1989 Sep;123(1):173-9. doi: 10.1093/genetics/123.1.173.

Abstract

We previously described a locus on chromosome (Chr) 17 of the mouse that is critical for normal testis development. This locus was designated "T-associated sex reversal" (Tas) because it segregated with the dominant brachyury allele hairpin tail (Thp) and caused gonads of C57BL/6J XY, Thp/+ individuals to develop as ovaries or ovotestes rather than as testes. To clarify the inheritance of Tas, we investigated the effects of T-Orleans (TOrl), another brachyury mutation, on gonad development. We found that gonads of C57BL/6J XY, Thp/+ and TOrl/+ mice develop ovarian tissue if the Y chromosome is derived from the AKR/J inbred strain, whereas normal testicular development occurs in the presence of a Y chromosome derived from the C57BL/6J inbred strain. From these observations we conclude that: (1) Tas is located in a region on Chr 17 common to the deletions associated with Thp, and TOrl, and (2) the Y-linked testis determining gene, Tdy, carried by the AKR/J inbred strain differs from that of the C57BL/6J inbred strain. We suggest that in mammals Tdy is not the sole testis determinant because autosomal loci must be genetically compatible with Tdy for normal testicular development.

摘要

我们之前描述过小鼠17号染色体(Chr)上的一个位点,它对正常睾丸发育至关重要。这个位点被命名为“T相关性反转”(Tas),因为它与显性短尾等位基因发夹尾(Thp)连锁,并且导致C57BL/6J XY、Thp/+个体的性腺发育为卵巢或卵睾,而非睾丸。为了阐明Tas的遗传情况,我们研究了另一个短尾突变T-奥尔良(TOrl)对性腺发育的影响。我们发现,如果Y染色体源自AKR/J近交系,C57BL/6J XY、Thp/+和TOrl/+小鼠的性腺会发育出卵巢组织,而当存在源自C57BL/6J近交系的Y染色体时,则会发生正常的睾丸发育。基于这些观察结果,我们得出以下结论:(1)Tas位于Chr 17上与Thp和TOrl相关的缺失所共有的区域,并且(2)AKR/J近交系携带的Y连锁睾丸决定基因Tdy与C57BL/6J近交系的不同。我们认为,在哺乳动物中,Tdy不是唯一的睾丸决定因素,因为常染色体位点必须与Tdy在基因上兼容,才能实现正常的睾丸发育。

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Inheritance of T-associated sex reversal in mice.小鼠中与T相关的性反转的遗传
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Autosomal genes involved in mammalian primary sex determination.参与哺乳动物初级性别决定的常染色体基因。
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