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This article is part of the supplement: Second International Symposium on Candidate Genes for Animal Health. 16-18 August 2002, Montpelier - France

Open Access Research

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

Cord Drögemüller*, Ottmar Distl and Tosso Leeb

Author Affiliations

Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany

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Genetics Selection Evolution 2003, 35(Suppl 1):S137-S145  doi:10.1186/1297-9686-35-S1-S137

The electronic version of this article is the complete one and can be found online at: http://www.gsejournal.org/content/35/S1/S137


Accepted:4 February 2003
Published:15 June 2003

© 2003 INRA, EDP Sciences

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

Research

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