Absence of correlation between Sry polymorphisms and XY sex reversal caused by the M-m-domesticus Y chromosome
Absence of correlation between Sry polymorphisms and XY sex reversal caused by the M-m-domesticus Y chromosome
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DOI：
10.1006/geno.1996.0156
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发表时间：
1996-04-01
期刊：
影响因子：
4.4
通讯作者：
Nagamine, CM
中科院分区：
文献类型：
--
作者：
Carlisle, C;Winking, H;Nagamine, CM
小家鼠Y染色体（Y-DOM Chrs）在品系C57 BL/6 J中诱导睾丸的能力不同。在严重的情况下，XY女性发展（XY（DOM）性逆转）。为了确定性逆转的分子基础，对与正常睾丸决定、短暂性逆转和严重性逆转相关的Y-DOM Chr中睾丸决定基因Sry的2.7 kb区域进行了测序。发现了四种突变。然而，这些突变与XY（DOM）性反转的严重程度之间不存在相关性。RT-PCR在交配后11天的XY（DOM）性反转胎儿性腺中鉴定了Sry转录物，假设Sry发挥作用的年龄。此外，XY（DOM）性逆转和pSx 1的拷贝数之间不存在相关性，pSx 1是一个Y重复序列，其缺失与XY性逆转有关。我们的结论是，SRY蛋白的变异，Sry转录的阻断，和缺失的pSx 1序列的XY（DOM）性逆转的根本原因。(C)出版社：Academic Press，Inc.
Mus musculus domesticus Y chromosomes (Y-DOM Chrs) vary in their ability to induce testes in the strain C57BL/6J. In severe cases, XY females develop (XY(DOM) sex reversal). To identify the molecular basis for the sex reversal, a 2.7-kb region of Sry, the testis-determining gene, was sequenced from Y-DOM Chrs linked to normal testis determination, transient sex reversal, and severe sex reversal. Four mutations were identified. However, no correlation exists between these mutations and severity of XY(DOM) sex reversal. RT-PCR identified Sry transcripts in XY(DOM) sex-reversed fetal gonads at 11 d.p.c., the age when Sry is hypothesized to function. In addition, no correlation exists between XY(DOM) sex reversal and copy numbers of pSx1, a Y-repetitive sequence whose deletion is linked to XY sex reversal. We conclude that SRY protein variants, blockade of Sry transcription, and deletion of pSx1 sequences are not the underlying causes of XY(DOM) sex reversal. (C) 1996 Academic Press, Inc.