X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

被引：14

作者：

Drögemüller, C ^{[1
]}

Distl, O ^{[1
]}

Leeb, T ^{[1
]}

机构：

[1] Hannover Sch Vet Med, Inst Genet & Anim Breeding, D-30559 Hannover, Germany

来源：

GENETICS SELECTION EVOLUTION | 2003年 / 35卷

关键词：

ED1; ectodysplasin; comparative bovine genome mapping; hypotrichosis; anodontia;

D O I：

10.1051/gse:2003022

中图分类号：

S8 [畜牧、动物医学、狩猎、蚕、蜂];

学科分类号：

0905 ;

摘要：

Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. Mutations in the ectodysplasin 1 (ED1) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. The bovine disorder may serve as an animal model for human ED1.

引用

页码：S137 / S145

页数：9

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