Bardoni B, Zanaria E, Guioli S, Floridia G, Worley K C, Tonini G, Ferrante E, Chiumello G, McCabe E R, Fraccaro M
Università di Pavia, Italy.
Nat Genet. 1994 Aug;7(4):497-501. doi: 10.1038/ng0894-497.
Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype. We have named this locus DSS (Dosage Sensitive Sex reversal) and localized it to a 160 kilobase region of chromosome Xp21, adjacent to the adrenal hypoplasia congenita locus. The identification of male individuals deleted for DSS suggests that this locus is not required for testis differentiation. We propose that DSS has a role in ovarian development and/or functions as a link between ovary and testis formation.
在X染色体短臂重复的个体中观察到了男性向女性的性反转。在此我们证明，性反转是由Xp位点的两个活性拷贝的存在导致的，而非其重排所致，并且该位点的改变是46,XY核型正常个体性反转的原因之一。我们将该位点命名为DSS（剂量敏感性性反转），并将其定位到Xp21染色体的一个160千碱基区域，该区域毗邻先天性肾上腺发育不全位点。对缺失DSS的男性个体的鉴定表明，该位点并非睾丸分化所必需。我们提出，DSS在卵巢发育中起作用，和/或作为卵巢与睾丸形成之间的一个联系。
