title: X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle.
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.
authors.affiliation: Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany. cord.droegemuller@tiho-hannover.de
authors.forename: Cord
authors.initials: C
authors.lastname: Drögemüller
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
mesh_terms: D000818:Animals; D002417:Cattle / Q000235:genetics*; D002418:Cattle Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000662:veterinary; D006801:Humans; D051379:Mice; D009154:Mutation; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014960:X Chromosome / Q000235:genetics*