Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
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DOI：
10.1038/ng0496-404
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发表时间：
1996-04-01
期刊：
影响因子：
30.8
通讯作者：
Camerino, G
中科院分区：
文献类型：
--
作者：
Swain, A;Zanaria, E;Camerino, G
染色体Xp21基因座DSS(剂量敏感性反转)的重复与男性到女性的性反转有关。核激素受体超家族中的一个不寻常的成员DAX1映射到DSS关键区，并与X连锁的肾上腺发育不全先天有关。在这里，我们描述了小鼠Dax1基因的分离及其在发育过程中的表达模式。在性腺和肾上腺分化的第一阶段以及发育中的下丘脑中均有表达。此外，Dax1的表达下调与睾丸的明显分化一致，但在发育中的卵巢中持续存在。对预测的人类和小鼠基因蛋白产物的比较表明，特定的结构域正在迅速进化。我们的结果提示受先天性肾上腺发育不良影响的男性肾上腺功能不全和性腺激素减退的基础，并与DAX1在性腺性别决定中的作用一致。
Duplications of a chromosome Xp21 locus DSS (dosage sensitive sex reversal) are associated with male to female sex reversal. An unusual member of the nuclear hormone receptor superfamily, DAX1, maps to the DSS critical region and is responsible for X-linked adrenal hypoplasia congenita. Here we describe the isolation of the mouse Dax1 gene and its pattern of expression during development. Expression was detected in the first stages of gonadal and adrenal differentiation and in the developing hypothalamus. Moreover, Dax1 expression is down-regulated coincident with overt differentiation in the testis, but persists in the developing ovary. Comparison of the predicted protein products of the human and mouse genes show that specific domains are evolving rapidly. Our results suggest a basis for adrenal insufficiency and hypogonadotropic hypogonadism in males affected by adrenal hypoplasia congenita and are consistent with a role for DAX1 in gonadal sex determination.