Title: 623 Gene expression enhancement by inhibitors of methylation: potential role in augmentation of apoptosis induced by interferons (IFNs) in melanoma and renal cell carcinoma (RCC)
Abstract: The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significantly affect hPMS2 (Pms1p in yeast) stability or interaction with MLH1, it could not complement the mutator phenotype in MMR-deficient mouse or yeast cells. Furthermore, hPMS2-E705K/pms1-E738K inhibited MMR in wild-type (WT) mammalian cell extracts or yeast cells only when present in excess amounts relative to WT PMS2. Our results strongly suggest that hPMS2-E705K is a recessive loss-of-function allele.
Publication Year: 2004
Publication Date: 2004-09-01
Language: en
Type: article
Indexed In: ['crossref']
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Cited By Count: 1
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