Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.
Anim Genet
; 42(6): 578-84, 2011 Dec.
Article
em En
| MEDLINE
| ID: mdl-22034998
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças dos Bovinos
/
Mutação da Fase de Leitura
/
Elementos Nucleotídeos Longos e Dispersos
/
Displasia Ectodérmica Anidrótica Tipo 1
Limite:
Animals
Idioma:
En
Revista:
Anim Genet
Assunto da revista:
GENETICA
/
MEDICINA VETERINARIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Dinamarca