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Related Experiment Videos

Neomorphic agouti mutations in obese yellow mice

D M Duhl1, H Vrieling, K A Miller

  • 1Department of Pediatrics, Stanford School of Medicine, California 94305.

Nature Genetics
|September 1, 1994
PubMed
Summary

Several mouse agouti gene mutations cause obesity and yellow coats. These mutations, including Ay, Aiy, Asy, and Avy, result from deletions or intracisternal A particle insertions, leading to altered gene expression and disease phenotypes.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • The mouse agouti gene controls coat color and has pleiotropic effects, including obesity.
  • Dominant mutations in the agouti gene are associated with obesity and a yellow coat phenotype.
  • The Ay allele is a large deletion affecting multiple contiguous genes.

Purpose of the Study:

  • To investigate the molecular basis of three obesity-associated agouti mutations: Aiy, Asy, and Avy.
  • To understand how these mutations lead to ubiquitous expression of a chimaeric RNA encoding normal agouti protein.
  • To establish a model for allele-specific imprinting and disease phenotypes.

Main Methods:

  • Molecular analysis of agouti mutations.
  • Identification of intracisternal A particle (IAP) element insertions.

Related Experiment Videos

  • RNA expression analysis.

    • Main Results:

    • Three obesity-associated agouti mutations (Aiy, Asy, Avy) result from distinct molecular alterations.
    • The Aiy and Avy alleles are caused by IAP element insertions upstream of agouti coding sequences.
    • These insertions lead to ubiquitous expression of a chimaeric RNA encoding a normal agouti protein.

    Conclusions:

    • The study provides a molecular model for allele-specific imprinting.
    • Mechanisms activating proto-oncogenes can also cause other disease phenotypes.
    • Understanding agouti mutations sheds light on gene regulation and disease development.