Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G
Laboratory of Developmental Genetics, MRC National Institute for Medical Research, London, UK.
Nat Genet. 1996 Apr;12(4):404-9. doi: 10.1038/ng0496-404.
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.
X染色体p21位点DSS（剂量敏感型性反转）的重复与男性向女性的性反转有关。核激素受体超家族的一个特殊成员DAX1，定位于DSS关键区域，并且是X连锁先天性肾上腺发育不全的致病原因。在此，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最初阶段以及发育中的下丘脑检测到了表达。此外，Dax1的表达在睾丸明显分化时下调，但在发育中的卵巢中持续存在。对人和小鼠基因预测的蛋白质产物的比较表明，特定结构域正在快速进化。我们的结果为受先天性肾上腺发育不全影响的男性肾上腺功能不全和低促性腺激素性性腺功能减退提供了一个依据，并且与DAX1在性腺性别决定中的作用相一致。
