title: A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle.
abstract: Anhidrotic ectodermal dysplasia (EDA) is a genetic disease characterized by the absence or hypoplasia of hair, teeth and eccrine sweat glands that has been reported in humans, the tabby mouse mutants, cattle and dogs. The EDA gene on the X chromosome encodes a protein, ectodysplasin-A (EDA), which is responsible for EDA. Here we describe a novel mutation of the EDA gene in which a 19 bp deletion in exon 1 in male Holstein calves demonstrated the phenotypic features of EDA. The dam and the grand-dam of the affected calves were heterozygous for this deletion. It is assumed that this deletion close to the start codon confuses all transcripts, and leads to the complete loss of pleiotropic functions of the bovine EDA gene. These results suggest that this mutation might be useful as animal models for the investigation of the pathogenic mechanisms of the anhidrotic ectodermal dysplasia.
authors.affiliation: Maebashi Institute of Animal Science, Livestock Improvement Association of Japan, Inc., Maebashi, Japan. ogino@liaj.or.jp
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ogino
authors.forename: Namiko
authors.initials: N
authors.lastname: Kohama
authors.forename: Shou
authors.initials: S
authors.lastname: Ishikawa
authors.forename: Keisuke
authors.initials: K
authors.lastname: Tomita
authors.forename: Sumie
authors.initials: S
authors.lastname: Nonaka
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Shimizu
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Tanabe
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Okawa
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Morita
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000662:veterinary*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012867:Skin / Q000473:pathology; D012886:Skull / Q000473:pathology
chemical_list: D053331:Ectodysplasins