Article
Sex determination: a 'window' of DAX1 activity.
Trends in endocrinology and metabolism: TEM - 1 Apr 2004
Ludbrook Louisa M, Harley Vincent R
Abstract excerpt
Traditionally, DAX1 was considered an 'anti-testis' gene because DAX1 duplications in XY individuals cause male-to-female sex reversal: dosage-sensitive sex reversal (DSS). In DSS, two active DAX1 genes on one X chromosome can abrogate testis formation. By contrast, mutations and deletions of DAX1 cause adrenal hypoplasia congenita (AHC). Although AHC patients develop testes, gonadal defects include disorganized...
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