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, 372 (6507), 635-41

An Unusual Member of the Nuclear Hormone Receptor Superfamily Responsible for X-linked Adrenal Hypoplasia Congenita

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An Unusual Member of the Nuclear Hormone Receptor Superfamily Responsible for X-linked Adrenal Hypoplasia Congenita

E Zanaria et al. Nature.

Abstract

X-linked adrenal hypoplasia congenita is a developmental disorder of the 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 hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor superfamily displaying a novel DNA-binding domain. The DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.

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