A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle
Version of Record online: 14 FEB 2011
© 2011 The Authors
Volume 148, Issue 1, pages 46–49, February 2011
How to Cite
Ogino, A., Kohama, N., Ishikawa, S., Tomita, K., Nonaka, S., Shimizu, K., Tanabe, Y., Okawa, H. and Morita, M. (2011), A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. Hereditas, 148: 46–49. doi: 10.1111/j.1601-5223.2010.02202.x
- Issue online: 15 MAR 2011
- Version of Record online: 14 FEB 2011
- Paper received 9 August 2010. manuscript accepted 14 January 2011.
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.