skip to main content
OSTI.GOV title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: PMS2 variant results in loss of ATPase activity without compromising mismatch repair

Journal Article · · Mol. Genet. Genomics
DOI:https://doi.org/10.1002/mgg3.1908· OSTI ID:1866478

Research Organization:
Argonne National Lab. (ANL), Argonne, IL (United States). Advanced Photon Source (APS)
Sponsoring Organization:
DOE - Office Of Science; NCI; NIGMS
OSTI ID:
1866478
Journal Information:
Mol. Genet. Genomics, Vol. 10, Issue (5)
Country of Publication:
United States
Language:
ENGLISH

References (66)

PHENIX: a comprehensive Python-based system for macromolecular structure solution journal January 2010
Towards automated crystallographic structure refinement with phenix.refine journal March 2012
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods journal May 2017
Transformation of MutL by ATP Binding and Hydrolysis journal April 1999
Crystal Structure and ATPase Activity of MutL journal November 1998
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 journal March 1999
The changing landscape of Lynch syndrome due to PMS2 mutations journal March 2018
Easy quantitative assessment of genome editing by sequence trace decomposition journal October 2014
Mammalian DNA Mismatch Repair journal December 1999
A Versatile Viral System for Expression and Depletion of Proteins in Mammalian Cells journal August 2009
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes journal February 2014
MolProbity : all-atom structure validation for macromolecular crystallography journal December 2009
CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens journal May 2018
Structure of the topoisomerase VI-B subunit: implications for type II topoisomerase mechanism and evolution journal January 2003
Structural Dissection of ATP Turnover in the Prototypical GHL ATPase TopoVI journal June 2005
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene journal January 2019
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair journal May 2007
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database journal January 2020
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene journal September 2013
GHKL, an emergent ATPase/kinase superfamily journal January 2000
Features and development of Coot journal March 2010
Identification of mismatch repair genes and their role in the development of cancer journal June 1995
In vitro studies of DNA mismatch repair proteins journal June 2011
Interaction of proliferating cell nuclear antigen with PMS2 is required for MutLα activation and function in mismatch repair journal April 2017
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase journal October 2001
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome: HANSEN et al. journal March 2017
Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2 journal September 2017
DNA mismatch repair: Molecular mechanism, cancer, and ageing journal July 2008
Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas journal July 2021
Conservation of functional asymmetry in the mammalian MutLα ATPase journal November 2010
In vitro and in vivo studies of MutS, MutL and MutH mutants: correlation of mismatch repair and DNA recombination journal April 2003
Endonucleolytic Function of MutLα in Human Mismatch Repair journal July 2006
The mutational constraint spectrum quantified from variation in 141,456 humans journal May 2020
Biochemistry and genetics of eukaryotic mismatch repair. journal June 1996
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2 journal April 2001
The PMS2 Subunit of Human MutLα Contains a Metal Ion Binding Domain of the Iron-Dependent Repressor Protein Family journal October 2008
Eukaryotic Mismatch Repair in Relation to DNA Replication journal November 2015
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario journal September 2020
Mechanisms and functions of DNA mismatch repair journal December 2007
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. journal March 1995
DNA Polymerase δ Is Required for Human Mismatch Repair in Vitro journal April 1997
Milestones of Lynch syndrome: 1895–2015 journal February 2015
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer journal May 2016
Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility journal April 2021
Mismatch Repair in Replication Fidelity, Genetic Recombination, and Cancer Biology journal June 1996
Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair journal March 2006
Single-molecule imaging reveals the mechanism of Exo1 regulation by single-stranded DNA binding proteins journal February 2016
Genomic Organization of the HumanPMS2Gene Family journal November 1995
A Naturally Occurring hPMS2 Mutation Can Confer a Dominant Negative Mutator Phenotype journal March 1998
Mutation of a mutL homolog in hereditary colon cancer journal March 1994
Deficient DNA mismatch repair: a common etiologic factor for colon cancer journal April 2001
Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer journal October 1997
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation journal February 2008
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination journal September 2008
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DMA mismatch repair journal March 1998
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology journal March 2015
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America journal September 2017
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer journal May 2017
DNA Mismatch Repair: Molecular Mechanisms and Biological Function journal October 2003
The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations journal August 2008
Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin journal February 2003
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability journal June 2017
Cancer Risks for PMS2 -Associated Lynch Syndrome journal October 2018
Frequency of mutations in individuals with breast cancer referred for BRCA 1 and BRCA 2 testing using next-generation sequencing with a 25-gene panel: Mutations in BRCA1/2 -Tested Patients journal September 2014
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance journal July 2010
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer journal April 2017