title: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
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.
authors.affiliation: Università di Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zanaria
authors.forename: F
authors.initials: F
authors.lastname: Muscatelli
authors.forename: B
authors.initials: B
authors.lastname: Bardoni
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: S
authors.initials: S
authors.lastname: Guioli
authors.forename: W
authors.initials: W
authors.lastname: Guo
authors.forename: E
authors.initials: E
authors.lastname: Lalli
authors.forename: C
authors.initials: C
authors.lastname: Moser
authors.forename: A P
authors.initials: AP
authors.lastname: Walker
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
mesh_terms: 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
chemical_list: 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