| First Author | Duhl DM | Year | 1994 |
| Journal | Nat Genet | Volume | 8 |
| Issue | 1 | Pages | 59-65 |
| PubMed ID | 7987393 | Mgi Jnum | J:19977 |
| Mgi Id | MGI:68094 | Doi | 10.1038/ng0994-59 |
| Citation | Duhl DM, et al. (1994) Neomorphic agouti mutations in obese yellow mice. Nat Genet 8(1):59-65 |
| abstractText | 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. |
