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Article

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

BMC cancer - 28 Oct 2009

Vogelsang Matjaz, Comino Aleksandra, Zupanec Neja, Hudler Petra, Komel Radovan

Abstract excerpt

BACKGROUND: Loss of DNA mismatch repair (MMR) in humans, mainly due to mutations in the hMLH1 gene, is linked to hereditary nonpolyposis colorectal cancer (HNPCC). Because not all MLH1 alterations result in loss of MMR function, accurate characterization of variants and their classification in terms of their effect on MMR function is essential for reliable genetic testing and effective treatment. To date, in vivo...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19863800
DOI: 10.1186/1471-2407-9-382
PMCID: PMC2773791

Genes

MLH1
PMS2
PMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.PMID 19863800Read ↗

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Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.Semantic proximity Read ↗

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.Semantic proximity Read ↗

Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function.Semantic proximity Read ↗

Negative epistasis between natural variants of the Saccharomyces cerevisiae MLH1 and PMS1 genes results in a defect in mismatch repair.Semantic proximity Read ↗

Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutation.Semantic proximity Read ↗

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Functional domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA mismatch repair proteins and their relevance to human hereditary nonpolyposis colorectal cancer-associated mutations.Semantic proximity Read ↗

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