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.
引用
收藏
页码：635 / 641
页数：7
相关论文
共 45 条
[1]   2 FAMILIES OF LOW-COPY-NUMBER REPEATS ARE INTERSPERSED ON XP22.3 - IMPLICATIONS FOR THE HIGH-FREQUENCY OF DELETIONS IN THIS REGION [J].
BALLABIO, A ;
BARDONI, B ;
GUIOLI, S ;
BASLER, E ;
CAMERINO, G .
GENOMICS, 1990, 8 (02) :263-270
[2]   A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL [J].
BARDONI, B ;
ZANARIA, E ;
GUIOLI, S ;
FLORIDIA, G ;
WORLEY, KC ;
TONINI, G ;
FERRANTE, E ;
CHIUMELLO, G ;
MCCABE, ERB ;
FRACCARO, M ;
ZUFFARDI, O ;
CAMERINO, G .
NATURE GENETICS, 1994, 7 (04) :497-501
[3]   SEPARATION OF CHROMOSOMAL DNA-MOLECULES FROM YEAST BY ORTHOGONAL-FIELD-ALTERNATION GEL-ELECTROPHORESIS [J].
CARLE, GF ;
OLSON, MV .
NUCLEIC ACIDS RESEARCH, 1984, 12 (14) :5647-5664
[4]  
DEVERNEUIL H, 1990, NUCLEIC ACIDS RES, V18, P4489
[5]   INTERACTIONS AMONG A SUBFAMILY OF NUCLEAR HORMONE RECEPTORS - THE REGULATORY ZIPPER MODEL [J].
FORMAN, BM ;
SAMUELS, HH .
MOLECULAR ENDOCRINOLOGY, 1990, 4 (09) :1293-1301
[6]   CREM GENE - USE OF ALTERNATIVE DNA-BINDING DOMAINS GENERATES MULTIPLE ANTAGONISTS OF CAMP-INDUCED TRANSCRIPTION [J].
FOULKES, NS ;
BORRELLI, E ;
SASSONECORSI, P .
CELL, 1991, 64 (04) :739-749
[7]   A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES [J].
FRANCO, B ;
GUIOLI, S ;
PRAGLIOLA, A ;
INCERTI, B ;
BARDONI, B ;
TONLORENZI, R ;
CARROZZO, R ;
MAESTRINI, E ;
PIERETTI, M ;
TAILLONMILLER, P ;
BROWN, CJ ;
WILLARD, HF ;
LAWRENCE, C ;
PERSICO, MG ;
CAMERINO, G ;
BALLABIO, A .
NATURE, 1991, 353 (6344) :529-536
[8]  
GOONEWARDENA P, 1989, CLIN GENET, V35, P5
[9]   A VERSATILE INVIVO AND INVITRO EUKARYOTIC EXPRESSION VECTOR FOR PROTEIN ENGINEERING [J].
GREEN, S ;
ISSEMANN, I ;
SHEER, E .
NUCLEIC ACIDS RESEARCH, 1988, 16 (01) :369-369
[10]  
Kastner P., 1994, Vitamin A in health and disease., P189
12345