Volume 35 Supplement 1

Second International Symposium on Candidate Genes for Animal Health. 16-18 August 2002, Montpelier - France

Open Access

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

Genetics Selection Evolution200335(Suppl 1):S137

https://doi.org/10.1186/1297-9686-35-S1-S137

Accepted: 4 February 2003

Published: 15 June 2003

Abstract

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.

Keywords

ED1 ectodysplasin comparative bovine genome mapping hypotrichosis anodontia

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Authors’ Affiliations

(1)
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover

Copyright

© INRA, EDP Sciences 2003

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