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Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.


ABSTRACT: MUTYH plays an essential role in preventing oxidation-caused DNA damage. Pathogenic germline variations in MUTYH damage its function, causing intestinal polyposis and colorectal cancer. Determination of the evolutionary origin of the variation is essential to understanding the etiological relationship between MUTYH variation and cancer development. In this study, we analyzed the origins of pathogenic germline variants in human MUTYH. Using a phylogenic approach, we searched MUTYH pathogenic variants in modern humans in the MUTYH of 99 vertebrates across eight clades. We did not find pathogenic variants shared between modern humans and the non-human vertebrates following the evolutionary tree, ruling out the possibility of cross-species conservation as the

SUBMITTER: Xiao F 

PROVIDER: S-EPMC10046817 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature