Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.

@article{Polanco2010Sox10GC,
  title={Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.},
  author={Juan Carlos Polanco and Dagmar Wilhelm and Tara-Lynne Davidson and Deon Knight and Peter Koopman},
  journal={Human molecular genetics},
  year={2010},
  volume={19 3},
  pages={506-16}
}
Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a cascade of gene activity required for testis formation. Although defects in this genetic cascade lead to human disorders of sex development (DSD), only a dozen DSD genes have been identified, and causes of 46,XX DSD (XX maleness) other than SRY translocation are almost completely unknown. Here, we show that transgenic expression of Sox10, a close relative of Sox9, in… CONTINUE READING