ArticleProceedings of the National Academy of Sciences of the United States of America2010
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion.BioMed research international · 2013Trial
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence.Nature communications · 2025Article
- A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.ACR open rheumatology · 2022Article
- Strategies to Identify Genetic Variants Causing Infertility.Trends in molecular medicine · 2021Review
- Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.Genetics · 2021Article
- Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition.PLoS genetics · 2021Article
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.International journal of molecular sciences · 2017Article
- Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.Journal of human genetics · 2016Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Postreplicative mismatch repair.Cold Spring Harbor perspectives in biology · 2013Review
- MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.PLoS genetics · 2013Article
- Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.Human mutation · 2012Article
- Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.Hereditary cancer in clinical practice · 2012Article
- A DNA repair pathway-focused score for prediction of outcomes in ovarian cancer treated with platinum-based chemotherapy.Journal of the National Cancer Institute · 2012Article
- An American founder mutation in MLH1.International journal of cancer · 2012Article
- Functional analyses of human DNA repair proteins important for aging and genomic stability using yeast genetics.DNA repair · 2012Review
- Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.Familial cancer · 2011Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Many of the mutations reported as potentially causing Lynch syndrome are missense mutations in human mismatch repair (MMR) genes. Here, we used a Saccharomyces cerevisiae-based system to study polymorphisms and suspected missense mutations in human MMR genes by modeling them at the appropriate S. cerevisiae chromosomal locus and determining their effect on mutation rates. We identified a number of weak alleles of MMR genes and MMR gene polymorphisms that are capable of interacting with other weak alleles of MMR genes to produce strong polygenic MMR defects. We also identified a number of alleles of MSH2 that act as if they inactivate the Msh2-Msh3 mispair recognition complex thus causing weak MMR defects that interact with an msh6Delta mutation to result in complete MMR defects. These results indicate that weak MMR gene alleles capable of polygenic interactions with other MMR gene alleles may be relatively common.
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