AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA

X-linked adrenal hypoplasia congenita is a developmental disorder of t he human adrenal gland that results in profound hormonal deficiencies and is,lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hy poplasia patients. DAX-1 encodes a new member of the nuclear hormone r eceptor superfamily displaying a novel DNA-binding domain. The DAX-1 p roduct acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.