Spongiform degeneration in mahoganoid mutant mice |
| |
Authors: | He Lin Lu Xin-Yun Jolly Aaron F Eldridge Adam G Watson Stanley J Jackson Peter K Barsh Gregory S Gunn Teresa M |
| |
Institution: | Department of Pediatrics, Department of Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA. |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|