Article
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
DNA repair - 4 Jun 2010
D'Agostino Vito G, Minoprio Anna, Torreri Paola, Marinoni Ilaria, Bossa Cecilia, Petrucci Tamara C, Albertini Alessandra M, Ranzani Guglielmina N, Bignami Margherita, Mazzei Filomena
Abstract excerpt
The MUTYH DNA glycosylase specifically removes adenine misincorporated by replicative polymerases opposite the oxidized purine 8-oxo-7,8-dihydroguanine (8-oxoG). A defective protein activity results in the accumulation of G>T transversions because of unrepaired 8-oxoG:A mismatches. In humans, MUTYH germline mutations are associated with a recessive form of familial adenomatous polyposis and colorectal cancer...
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