Issue |
Genet. Sel. Evol.
Volume 35, Number Suppl. 1, 2003
Second International Symposium on Candidate Genes for Animal Health
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Page(s) | S137 - S145 | |
DOI | https://doi.org/10.1051/gse:2003022 |
DOI: 10.1051/gse:2003022
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
Cord Drögemüller, Ottmar Distl and Tosso LeebInstitute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany
(Accepted 4 February 2003)
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.
Key words: ED1 / ectodysplasin / comparative bovine genome mapping / hypotrichosis / anodontia
Correspondence and reprints: Cord Drögemüller
e-mail: cord.droegemueller@tiho-hannover.de
© INRA, EDP Sciences 2003