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