A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.
PLoS Genet
; 8(3): e1002581, 2012.
Article
em En
| MEDLINE
| ID: mdl-22438830
ABSTRACT
We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Íntrons
/
Splicing de RNA
/
Isoformas de Proteínas
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Crescimento
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article