Neomorphic agouti mutations in obese yellow mice.
Nat Genet
; 8(1): 59-65, 1994 Sep.
Article
em En
| MEDLINE
| ID: mdl-7987393
ABSTRACT
Several dominant mutations of the mouse agouti coat colour gene have pleiotropic effects that include obesity and a yellow coat. The Ay allele is caused by a large deletion that affects the expression of several contiguous genes. We show that three other obesity-associated agouti mutations, Aiy, Asy and Avy, are due to different molecular alterations that result in ubiquitous expression of a chimaeric RNA that encodes a normal agouti protein. The Aiy and Avy alleles are caused by insertion of an intracisternal A particle element 1 kb or 100 kb, respectively, upstream of agouti coding sequences. These results provide a model for other genes that show allele-specific imprinting, and demonstrate that molecular mechanisms typically responsible for activation of proto-oncogenes can also lead to other disease phenotypes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cor de Cabelo
/
Proteínas
/
Peptídeos e Proteínas de Sinalização Intercelular
/
Camundongos Obesos
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article