Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
PLoS Genet
; 5(9): e1000666, 2009 Sep.
Article
em En
| MEDLINE
| ID: mdl-19779552
ABSTRACT
We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Seleção Genética
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Bovinos
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Glicoproteínas de Membrana
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Doenças dos Bovinos
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Surtos de Doenças
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Mutação da Fase de Leitura
Tipo de estudo:
Prognostic_studies
Limite:
Animals
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article