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

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. D...

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Bibliographic Details
Published in:Nature (London) 1994-12, Vol.372 (6507), p.635-641
Main Authors: Zanaria, Elena, Muscatelli, Françoise, Bardoni, Barbara, Strom, Tim M, Guioli, Silvana, Guo, Weiwen, Lalli, Enzo, Moser, Claudio, Walker, Ann P, McCabe, Edward R. B, Meitinger, Thomas, Monaco, Anthony P, Sassone-Corsi, Paolo, Camerino, Giovanna
Format: Article
Language:English
Subjects:
Adrenal glands
adrenal hypoplasia congenita
Adrenal Insufficiency - congenital
Adrenal Insufficiency - genetics
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Amino Acid Sequence
Animals
Base Sequence
Biochemistry, Molecular Biology
Biological and medical sciences
cDNA
Cell Nucleus - metabolism
Chromosome Mapping
DAX-1 gene
DAX-1 Orphan Nuclear Receptor
Disease
DNA, Complementary - metabolism
DNA-binding protein
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
Endocrinopathies
Female
Gene Deletion
Gene Expression
Genes
Genetic Linkage
Hormones
Humans
Life Sciences
Male
man
Medical sciences
Molecular Sequence Data
Mutation
Non tumoral diseases. Target tissue resistance. Benign neoplasms
nucleotide sequence
Receptors, Cytoplasmic and Nuclear - genetics
Receptors, Cytoplasmic and Nuclear - metabolism
Receptors, Retinoic Acid - genetics
Receptors, Retinoic Acid - metabolism
Repressor Proteins
retinoic acid receptors
Sequence Homology, Amino Acid
Sex Differentiation - genetics
testes
Transcription Factors - genetics
Transcription, Genetic
X Chromosome
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Description
Summary: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.
ISSN:0028-0836
1476-4687
DOI:10.1038/372635a0