Nat Genet. 1994 Sep;8(1):59-65.

Neomorphic agouti mutations in obese yellow mice.

Duhl DM, Vrieling H, Miller KA, Wolff GL, Barsh GS.

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Department of Pediatrics, Stanford School of Medicine, California 94305.

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.

PMID:: 7987393; [PubMed - indexed for MEDLINE]

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Review The molecular basis for dominant yellow agouti coat color mutations. [Bioessays. 1994]
Review The molecular basis for dominant yellow agouti coat color mutations.
Perry WL, Copeland NG, Jenkins NA. Bioessays. 1994 Oct; 16(10):705-7.
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Michaud EJ, van Vugt MJ, Bultman SJ, Sweet HO, Davisson MT, Woychik RP. Genes Dev. 1994 Jun 15; 8(12):1463-72.
Review The agouti gene: turned on to yellow. [Trends Genet. 1994]
Review The agouti gene: turned on to yellow.
Siracusa LD. Trends Genet. 1994 Dec; 10(12):423-8.

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Cited by 57 PubMed Central articles

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