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

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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 reaing frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

Original languageEnglish
JournalAnimal Genetics
Issue number6
Pages (from-to)578-584
Number of pages7
Publication statusPublished - 2011

ID: 33347484