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Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. | LitMetric

AI Article Synopsis

  • - The study investigates nine specific missense mutations in the MUTYH gene, which is linked to MUTYH-associated polyposis (MAP), a condition leading to colorectal cancer due to defective DNA repair.
  • - Functional tests show that two variants, p.N238S and p.R247G, exhibit severe and partial defects in DNA repair activities, while the other seven variants maintained normal function.
  • - The findings suggest that p.N238S and p.R247G could be harmful mutations contributing to the development of MAP.

Article Abstract

Biallelic germline mutations of MUTYH, the gene encoding DNA glycosylase, cause MUTYH-associated polyposis (MAP), characterized by multiple colorectal adenomas and carcinoma(s). However, a considerable number of MUTYH variants are still functionally uncharacterized. Herein, we report the results of functional evaluation of nine missense-type MUTYH variant proteins in the Japanese population. The DNA glycosylase activity and ability to suppress mutations caused by 8-hydroxyguanine, an oxidized form of guanine, were examined for the nine variants of type 2 MUTYH, a nuclear form of the enzyme, by DNA cleavage activity assay and supF forward mutation assay, respectively. Both activities were severely defective in the p.N210S MUTYH type 2 variant corresponding to p.N238S in the reference MUTYH form and partially defective in p.R219G variant corresponding to p.R247G, but nearly fully retained in seven other variants examined. Our results suggest that p.N238S and p.R247G are likely to be pathogenic alleles for MAP.

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Source
http://dx.doi.org/10.1002/humu.22949DOI Listing

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