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Mutation scanning results on the largest cohort published to date confirm that the highest detection rate of PMS2 mutations is found in patients with a tumor showing isolated loss of PMS2 expression in addition to germline PMS2 mutation in patients with Lynch syndrome or mismatch repair deficiency syndrome.
Germline PMS2 and somatic POLE exonuclease (show EXO1 Proteins) mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours
Loss of PMS2 expression is associated with colorectal carcinoma.
A novel pathogenic PMS2 mutation in a mismatch repair deficiency patient
High PMS2 expression is associated with the development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer.
Data suggest that yeast Mlh1 (show MLH1 Proteins)-Mlh3 heterodimer does not exhibit hallmarks of a canonical (structure-selective) Holliday junction resolvase/endonuclease; multiple Mlh1 (show MLH1 Proteins)-Mlh3 heterodimers appear to load onto DNA to form an activated polymer that cleaves DNA; human MLH1 (show MLH1 Proteins)-PMS2 exhibits similar characteristics. (MLH = mutL homolog protein; PMS2 = post meiotic segregation increased 2 protein)
In an individual with mismatch repair deficiency syndrome, PMS2 was found to be homozygously inactivated by a complex chromosomal rearrangement.
show that DNA repair genes (fan1 (show FSCN1 Proteins) and pms2) significantly modify age at onset in Huntington's Disease and Spinocerebellar Ataxias, suggesting a common pathogenic mechanism, which could operate through the observed somatic expansion of repeats
The results of this case study indicated that although FOXL2 (show FOXL2 Proteins) 402C > G mutation determines the development of granulosa cell tumor, PMS2 mutation may be the initial driver of carcinogenesis. Immunohistochemistry-based tumor testing for mismatch repair gene expression may be necessary for granulosa cell tumors to determine their malignant potential or if they are part of Lynch syndrome.
A total of 201 unique disease-predisposing mismatch repair gene mutations were identified in 369 Lynch syndrome families. These mutations affected MLH1 (show MLH1 Proteins) in 40%, MSH2 (show MSH2 Proteins) in 36%, MSH6 (show MSH6 Proteins) in 18% and PMS2 in 6% of the families.
Pms2/Mlh1 (show MLH1 Proteins) and multiple uracil glycosylases act jointly, each one with a distinct strand bias, to enlarge the immunoglobulin gene mutation spectrum from G-C to A-T bases.
Primary function of Pms2 during spermatogenesis is to stabilize Mlh1 levels prior to its critical crossing over function with Mlh3. An intact Pms2 ATPase domain is not essential for male fertility.
Pms2 specifically suppresses large expansions of a pathogenic trinucleotide repeat sequence in neuronal tissues, possibly acting independently of the canonical mismatch repair pathway.
Down-regulation of PMS2 is associated with initiation and growth of neuroblastoma (show ARHGEF16 Proteins) and brain tumour multicellular spheroids.
the integrity of the MLH1 ATPase domain is more critical than the PMS2 ATPase domain for normal DNA mismatch repair functions
Data show that the PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression.
Role for mismatch repair proteins Msh2 (show MSH2 Proteins), Mlh1 (show MLH1 Proteins), and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions.
We found that MLH1 (show MLH1 Proteins) and PMS2 have functional nuclear localization signals (NLS (show ALDH1A2 Proteins)) and nuclear export sequences, yet nuclear import depended on their C-terminal dimerization to form MutLalpha
Pms2 has a role in the prevention of tandem CC --> TT substitutions induced by ultraviolet radiation and oxidative stress.
Data show partial functional redundancy between MLH3 and PMS2 orthologues for mutation avoidance and show a role for Mlh3 in gastrointestinal and extragastrointestinal tumor suppression.
This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene.
DNA mismatch repair protein PMS2
, PMS1 protein homolog 2
, mismatch repair endonuclease PMS2
, PMS2 postmeiotic segregation increased 2