Article
A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S]2+ cluster.
Nature chemistry - 1 Aug 2018
McDonnell Kevin J, Chemler Joseph A, Bartels Phillip L, O'Brien Elizabeth, Marvin Monica L, Ortega Janice, Stern Ralph H, Raskin Leon, Li Guo-Min, Sherman David H, Barton Jacqueline K, Gruber Stephen B
Abstract excerpt
The human DNA repair enzyme MUTYH excises mispaired adenine residues in oxidized DNA. Homozygous MUTYH mutations underlie the autosomal, recessive cancer syndrome MUTYH-associated polyposis. We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer. In...
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