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. 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.
Zanaria
E
E
Università di Pavia, Italy.
Muscatelli
F
F
Bardoni
B
B
Strom
T M
TM
Guioli
S
S
Guo
W
W
Lalli
E
E
Moser
C
C
Walker
A P
AP
McCabe
E R
ER
D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002467:Cell Nucleus / Q000378:metabolism; D002874:Chromosome Mapping; D057137:DAX-1 Orphan Nuclear Receptor; D018076:DNA, Complementary / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics* / Q000378:metabolism; D018168:Receptors, Retinoic Acid / Q000235:genetics* / Q000378:metabolism; D012097:Repressor Proteins; D017386:Sequence Homology, Amino Acid; D012733:Sex Differentiation / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic; D014960:X Chromosome
D057137:DAX-1 Orphan Nuclear Receptor; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors