AUTOSOMAL SEX REVERSAL AND CAMPOMELIC DYSPLASIA ARE CAUSED BY MUTATIONS IN AND AROUND THE SRY-RELATED GENE SOX9

被引：1229
作者：
WAGNER, T
WIRTH, J
MEYER, J
ZABEL, B
HELD, M
ZIMMER, J
PASANTES, J
BRICARELLI, FD
KEUTEL, J
HUSTERT, E
WOLF, U
TOMMERUP, N
SCHEMPP, W
SCHERER, G
机构：
[1] UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
[2] UNIV VIGO,DEPT BIOLOXIA FUNDAMENTAL,XENET LAB,E-36200 VIGO,SPAIN
[3] ENTE OSPEDALIERO OSPED GALLIERA,I-16128 GENOA,ITALY
[4] KINDERKLIN,D-28277 BREMEN,GERMANY
[5] GSF FORSCHUNGSZENTRUM UNWELT & GESUNDHEIT,INST SAUGETIERGENET,D-85764 OBERSCHLEISSHEIM,GERMANY
[6] JOHN F KENNEDY INST,DANISH CTR HUMAN GENOME RES,DK-2600 GLOSTRUP,DENMARK
[7] ULLEVAL UNIV HOSP,DEPT MED GENET,N-0407 OSLO,NORWAY
来源：
CELL | 1994年 / 79卷 / 06期
关键词：
D O I：
10.1016/0092-8674(94)90041-8
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q, The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized, SOX9 encodes a putative transcription factor structurally related to the testis-determining factor SRY and is expressed in many adult tissues, and in fetal testis and skeletal tissue, Inactivating mutations on one SOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency far SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal. The 17q breakpoints in three CMPD1 translocation cases map 50 kb or more from SOX9.
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收藏
页码：1111 / 1120
页数：10
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