ArticleCancer letters2007
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
Article in Cancer letters, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- PMS2 variant results in loss of ATPase activity without compromising mismatch repair.Molecular genetics & genomic medicine · 2022Article
- A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.Cell death & disease · 2021Article
- Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination.The Journal of biological chemistry · 2020Article
- Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.Familial cancer · 2019Article
- The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Review
- MutL traps MutS at a DNA mismatch.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Eukaryotic Mismatch Repair in Relation to DNA Replication.Annual review of genetics · 2015Review
- PCNA and Msh2-Msh6 activate an Mlh1-Pms1 endonuclease pathway required for Exo1-independent mismatch repair.Molecular cell · 2014Article
- Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae.PLoS genetics · 2014Article
- Mlh1-Mlh3, a meiotic crossover and DNA mismatch repair factor, is a Msh2-Msh3-stimulated endonuclease.The Journal of biological chemistry · 2014Article
- Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.Human mutation · 2013Article
- Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.PLoS genetics · 2013Article
- Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.Nature structural & molecular biology · 2013Article
- The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.Carcinogenesis · 2012Article
- Article
- Conservation of functional asymmetry in the mammalian MutLα ATPase.DNA repair · 2010Article
- The C-terminal domain of the MutL homolog from Neisseria gonorrhoeae forms an inverted homodimer.PloS one · 2010Article
- PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significantly affect hPMS2 (Pms1p in yeast) stability or interaction with MLH1, it could not complement the mutator phenotype in MMR-deficient mouse or yeast cells. Furthermore, hPMS2-E705K/pms1-E738K inhibited MMR in wild-type (WT) mammalian cell extracts or yeast cells only when present in excess amounts relative to WT PMS2. Our results strongly suggest that hPMS2-E705K is a recessive loss-of-function allele.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.