X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattleCord Drögemüller, Ottmar Distl and Tosso Leeb
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany
(Accepted 4 February 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.
Key words: ED1 / ectodysplasin / comparative bovine genome mapping / hypotrichosis / anodontia
Correspondence and reprints: Cord Drögemüller
© INRA, EDP Sciences 2003