An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Nature. 1994 Dec 15;372(6507):635-41. doi: 10.1038/372635a0.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Insufficiency / congenital
  • Adrenal Insufficiency / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Nucleus / metabolism
  • Chromosome Mapping
  • DAX-1 Orphan Nuclear Receptor
  • DNA, Complementary / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Gene Deletion
  • Gene Expression
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Cytoplasmic and Nuclear / metabolism
  • Receptors, Retinoic Acid / genetics*
  • Receptors, Retinoic Acid / metabolism
  • Repressor Proteins*
  • Sequence Homology, Amino Acid
  • Sex Differentiation / genetics
  • Transcription Factors / genetics*
  • Transcription, Genetic
  • X Chromosome*

Substances

  • DAX-1 Orphan Nuclear Receptor
  • DNA, Complementary
  • DNA-Binding Proteins
  • NR0B1 protein, human
  • Receptors, Cytoplasmic and Nuclear
  • Receptors, Retinoic Acid
  • Repressor Proteins
  • Transcription Factors

Associated data

  • GENBANK/S74720

Grant support