Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.
A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.
Section of Genetics and Bioinformatics, Department of Basic Animal and Veterinary Sciences, Faculty of Life Sciences, University of Copenhagen, Groennegaardsvej 3, Frederiksberg, Denmark. pkm@life.ku.dk
P
P
Karlskov-Mortensen
S
S
Cirera
O L
OL
Nielsen
J
J
Arnbjerg
J
J
Reibel
M
M
Fredholm
J S
JS
Agerholm
D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D018388:Codon, Terminator; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics / Q000662:veterinary*; D005260:Female; D016368:Frameshift Mutation; D007438:Introns; D020084:Long Interspersed Nucleotide Elements; D008297:Male
D018388:Codon, Terminator