AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA

被引：685
作者：
ZANARIA, E
MUSCATELLI, F
BARDONI, B
STROM, TM
GUIOLI, S
GUO, WW
LALLI, E
MOSER, C
WALKER, AP
MCCABE, ERB
MEITINGER, T
MONACO, AP
SASSONECORSI, P
CAMERINO, G
机构：
[1] UNIV PAVIA,I-27100 PAVIA,ITALY
[2] JOHN RADCLIFFE HOSP,INST MOLEC MED,IMPERIAL CANC RES FUND LABS,OXFORD OX3 9DU,ENGLAND
[3] LMU,KINDERPOLIKLIN,PADIAT GENET ABT,D-80336 MUNICH,GERMANY
[4] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[5] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030
[6] ULP,CNRS,INSERM,INST GENET & BIOL MOLEC CELLULAIRE,IGBMC,F-67404 ILLKIRCH GRAFFENS,FRANCE
[7] UNIV SASSARI,IST ISTOL & EMBRIOL,I-07100 SASSARI,ITALY
来源：
NATURE | 1994年 / 372卷 / 6507期
关键词：
D O I：
10.1038/372635a0
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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.
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页码：635 / 641
页数：7
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