RT Journal
A1 Drögemüller, Cord
A1 Distl, Ottmar
A1 Leeb, Tosso
T1 Partial Deletion of the Bovine ED1 Gene Causes Anhidrotic Ectodermal Dysplasia in Cattle
JF Genome Research 
JO Genome Research 
YR 2001 
FD October 01 
VO 11 
IS 10 
SP 1699 
OP 1705 
DO 10.1101/gr.182501 
UL http://genome.cshlp.org/content/11/10/1699.abstract 
AB Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine ED1 gene on BTA Xq22–Xq24. Physical mapping and sequence analysis of the coding parts of theED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.[The sequence data described in this paper have been submitted to the EMBL nucleotide database under accession nos. AJ300468, AJ300469, and AJ278907.]