An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
basic_science · Level V
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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.
Medical subject headings
- Adrenal Insufficiency
- DNA-Binding Proteins
- Mutation
- Receptors, Cytoplasmic and Nuclear
- Receptors, Retinoic Acid
- Repressor Proteins
- Transcription Factors
- X Chromosome