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小鼠中的遗传性性反转:一个新的主要性别决定基因的鉴定。

Inherited sex reversal in mice: identification of a new primary sex-determining gene.

作者信息

Eicher E M, Washburn L L

出版信息

J Exp Zool. 1983 Nov;228(2):297-304. doi: 10.1002/jez.1402280213.

DOI:10.1002/jez.1402280213
PMID:6663259
Abstract

We present evidence that the inbred mouse strain C57BL/6J (B6) differs from Mus domesticus (DOM) at a locus involved in gonad determination and development as well as at the testis-determining locus on the Y chromosome (Tdy). This newly identified gene is named testis-determining, autosomal-1 (tda-1). Although the inheritance of tda-1 suggests it is located on an autosome, its location on the X and Y chromosome in their pairing-recombination region is not excluded. When mice are homozygous for the C57BL/6J-derived tda-1 allele (tda-1B6) and carry the Y chromosome from M. domesticus, they develop as true hermaphrodites or, more rarely, as females. In contrast, when they are homozygous Tda-1DOM/Tda-1DOM or heterozygous Tda-1/DOMtda-1B6 and carry a B6-derived or M. domesticus-derived Y chromosome they develop as normal males. A simple genetic model is presented that integrates proposed steps in gonad determination and the results from genetic experiments reported here. In addition, arguments are presented for the existence of an ovary-determining gene.

摘要

我们提供的证据表明,近交系小鼠C57BL/6J(B6)在一个参与性腺决定和发育的位点以及Y染色体上的睾丸决定位点(Tdy)与小家鼠(DOM)存在差异。这个新发现的基因被命名为睾丸决定常染色体-1(tda-1)。尽管tda-1的遗传模式表明它位于常染色体上,但也不能排除它位于X和Y染色体配对重组区域的可能性。当小鼠对于源自C57BL/6J的tda-1等位基因(tda-1B6)呈纯合状态,并携带小家鼠的Y染色体时,它们会发育为真两性畸形,或者更罕见地发育为雌性。相反,当它们对于Tda-1DOM呈纯合状态(Tda-1DOM/Tda-1DOM)或者为杂合状态(Tda-1/DOMtda-1B6),并携带源自B6或小家鼠的Y染色体时,它们会发育为正常雄性。本文提出了一个简单的遗传模型,该模型整合了性腺决定过程中的假设步骤以及本文报道的遗传实验结果。此外,还阐述了存在卵巢决定基因的论据。

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Inherited sex reversal in mice: identification of a new primary sex-determining gene.小鼠中的遗传性性反转:一个新的主要性别决定基因的鉴定。
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