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

被引：683

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.

引用

页码：635 / 641

页数：7

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