CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE

被引：1325

作者：

FOSTER, JW

DOMINGUEZSTEGLICH, MA

GUIOLI, S

KWOK, C

WELLER, PA

STEVANOVIC, M

WEISSENBACH, J

MANSOUR, S

YOUNG, ID

GOODFELLOW, PN

BROOK, JD

SCHAFER, AJ

机构：

[1] UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND

[2] CITY HOSP,CTR MED GENET,NOTTINGHAM,ENGLAND

[3] UNIV NOTTINGHAM,QUEENS MED CTR,DEPT GENET,NOTTINGHAM NG7 2UH,ENGLAND

[4] LAB GENETHON,F-91002 EVRY,FRANCE

[5] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

NATURE | 1994年 / 372卷 / 6506期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/372525a0

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 [理学]; 0710 [生物学]; 09 [农学];

摘要：

Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.

引用

页码：525 / 530

页数：6

共 44 条

[1]

A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL [J].