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.
journal_name
Hereditasjournal_title
Hereditasauthors
Ogino A,Kohama N,Ishikawa S,Tomita K,Nonaka S,Shimizu K,Tanabe Y,Okawa H,Morita Mdoi
10.1111/j.1601-5223.2010.02202.xsubject
Has Abstractpub_date
2011-02-01 00:00:00pages
46-9issue
1eissn
0018-0661issn
1601-5223journal_volume
148pub_type
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