E. Zanaria et al., AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA, Nature, 372(6507), 1994, pp. 635-641
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.