This article is part of the supplement: Second International Symposium on Candidate Genes for Animal Health. 16-18 August 2002, Montpelier - France
Research
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
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* Corresponding author: Cord Drögemüller cord.droegemueller@tiho-hannover.de
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany
Genetics Selection Evolution 2003, 35(Suppl 1):S137-S145 doi:10.1186/1297-9686-35-S1-S137
Published: 15 June 2003Abstract
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.