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Spongiform degeneration in mahoganoid mutant mice.

Science (New York, N.Y.) | Jan 31, 2003

mahoganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble those of Attractin (Atrn). Atrn mutations also cause spongiform neurodegeneration. Here, we show that a null mutation for mahoganoid causes a similar age-dependent neuropathology that includes many features of prion diseases but without accumulation of protease-resistant prion protein. The gene mutated in mahoganoid encodes a RING-containing protein with E3 ubiquitin ligase activity in vitro. Similarities in phenotype, expression, and genetic interactions suggest that mahoganoid and Atrn genes are part of a conserved pathway for regulated protein turnover whose function is essential for neuronal viability.

Pubmed ID: 12560552 RIS Download

Mesh terms: Alleles | Amino Acid Sequence | Animals | Blotting, Northern | Brain | Carrier Proteins | Crosses, Genetic | Female | Gene Expression | Ligases | Male | Membrane Proteins | Mice | Mice, Inbred C3H | Mice, Mutant Strains | Mice, Transgenic | Models, Biological | Molecular Sequence Data | Mutation | Neurodegenerative Diseases | Neurons | Pigmentation | Prions | RNA, Messenger | Recombinant Fusion Proteins | Transgenes | Ubiquitin | Ubiquitin-Protein Ligases | Vacuoles

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Associated grants


Mouse Genome Informatics (Data, Gene Annotation)

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