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Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

P Karlskov-Mortensen1, S Cirera, O L Nielsen

  • 1Section 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

Animal Genetics
|November 1, 2011
PubMed
Summary

Researchers identified a novel genetic cause for X-linked hypohidrotic ectodermal dysplasia (XHED) in Danish Red Holstein cattle. A new EDA gene transcript variant, featuring a LINE1-derived pseudoexon, likely disrupts protein function, leading to XHED.

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