PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene. [5][6] The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven.

Mar 30, 2025 · PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include Colorectal Cancer and Lynch Syndrome . Among its related pathways is Base excision repair .

Recent human genome-wide association studies (GWAS) have identified genetic modifiers of age at disease onset that map to a constellation of DNA repair genes that include the MMR genes MSH3, MLH1, PMS1, PMS2, as well as LIG1, and FAN1 .

Jul 25, 2023 · We show the splice modulators also target PMS1, a known modifier of HD age-at-onset, and demonstrate that branaplam’s suppression of CAG expansion is due to pseudoexon inclusion in PMS1, making this a potential strategy for treatment of HD.

Feb 9, 2025 · Title: Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. PMS1 is most likely deregulated by post-transcriptional modification in oral squamous cell carcinoma.

Apr 12, 2024 · Using a human cell line model and splice modulators, here the authors show that PMS1 is an enhancer of CAG repeat expansion, making it a target for therapeutic intervention.

Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.

PMS1 postmeiotic segregation increased 1 (PMS1) is a gene that encodes a protein that functions in DNA mismatch repair. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PMS1 (c.585_699del) was the first PMS1 germline mutation reported by Fraser et al in 1994, which was presumed to be responsible for the HNPCC phenotype. Betti et al recently reported a novel truncated germline PMS1 mutation (c.1380delT, p.Ser460fs) that may predispose malignant pleural mesothelioma. [ 30 ]

Dec 10, 2020 · Genetic analysis revealed that mlh2 dominant mutations interfere with both Exonuclease 1 (Exo1)-dependent and Exo1-independent MMR. Lastly, we demonstrate that a homolog mutation in human hPMS1...