Article
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9).
Endocrinology - 1 Apr 2012
Ludbrook Louisa M, Bernard Pascal, Bagheri-Fam Stefan, Ryan Janelle, Sekido Ryohei, Wilhelm Dagmar, Lovell-Badge Robin, Harley Vincent R
Abstract excerpt
Human DAX1 duplications cause dosage-sensitive sex reversal (DSS) whereby chromosomally XY individuals can develop as females due to gonadal dysgenesis. However, the mechanism of DSS-adrenal hypoplasia congenita on X, gene 1 (DAX1) action in the fetal testis is unknown. We show that in fetal testes from XY Dax1-overexpressing transgenic mice, the expression of the key testis-promoting gene sex-determining region...
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