Article
Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.
Communications biology - 10 Dec 2020
Reyes Gloria X, Zhao Boyu, Schmidt Tobias T, Gries Kerstin, Kloor Matthias, Hombauer Hans
Abstract excerpt
Inactivating mutations affecting key mismatch repair (MMR) components lead to microsatellite instability (MSI) and cancer. However, a number of patients with MSI-tumors do not present alterations in classical MMR genes. Here we discovered that specific missense mutations in the MutL homolog MLH2, which is dispensable for MMR, confer a dominant mutator phenotype in S. cerevisiae. MLH2 mutations elevated frameshift...
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