Human HOX gene mutations

被引：92

作者：

Goodman, FR ^{[1
]}

Scambler, PJ ^{[1
]}

机构：

[1] Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

来源：

CLINICAL GENETICS | 2001年 / 59卷 / 01期

关键词：

Hand-Foot-Genital syndrome; HOX genes; HOXA13; HOXD13; limb malformations; polyalanine tract; expansions; synpolydactyly;

D O I：

10.1034/j.1399-0004.2001.590101.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

HOX genes play a fundamental role in the development of the vertebrate central nervous system, axial skeleton, limbs, gut, urogenital tract and external genitalia, but it is only in the last 4 years that mutations in two of the 39 human HOX genes have been shown to cause congenital malformations: HOXD13, which is mutated in synpolydactyly, and HOXA13, which is mutated in Hand-Foot-Genital syndrome. Here we review the mutations already identified in these two genes, consider how these mutations may act, and discuss the possibility that further mutations remain to be discovered both in developmental disorders and in cancer.

引用

页码：1 / 11

页数：11

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