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Genetics Selection Evolution

Open Access

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

Genetics Selection Evolution200335(Suppl 1):S137

Accepted: 4 February 2003

Published: 15 June 2003


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.


ED1ectodysplasincomparative bovine genome mappinghypotrichosisanodontia

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Authors’ Affiliations

Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Hannover, Germany


© INRA, EDP Sciences 2003