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

D'Arcy, Brandon M.; Arrington, Jennifer; Weisman, Justin; McClellan, Steven B.; Vandana,; Yang, Zhengrong; Deivanayagam, Champion; Blount, Jessa; Prakash, Aishwarya

doi:10.1002/mgg3.1908

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

Journal Article · 01 May 2022 · Mol. Genet. Genomics

DOI:https://doi.org/10.1002/mgg3.1908· OSTI ID:1866478

D'Arcy, Brandon M.; Arrington, Jennifer; Weisman, Justin; McClellan, Steven B.; Vandana,; Yang, Zhengrong; Deivanayagam, Champion; Blount, Jessa; Prakash, Aishwarya

Research Organization:: Advanced Photon Source (APS), Argonne National Laboratory (ANL), Argonne, IL (US)

Sponsoring Organization:: DOE - Office Of Science; NCI; NIGMS

OSTI ID:: 1866478

Journal Information:: Mol. Genet. Genomics, Journal Name: Mol. Genet. Genomics Journal Issue: (5) Vol. 10

Country of Publication:: United States

Language:: ENGLISH

References (66)

CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens Concordet, Jean-Paul; Haeussler, Maximilian Nucleic Acids Research, Vol. 46, Issue W1 https://doi.org/10.1093/nar/gky354	journal	May 2018
The PMS2 Subunit of Human MutLα Contains a Metal Ion Binding Domain of the Iron-Dependent Repressor Protein Family Kosinski, Jan; Plotz, Guido; Guarné, Alba Journal of Molecular Biology, Vol. 382, Issue 3 https://doi.org/10.1016/j.jmb.2008.06.056	journal	October 2008
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation Perera, Sheron; Bapat, Bharati Human Mutation, Vol. 29, Issue 2 https://doi.org/10.1002/humu.9523	journal	February 2008
Features and development of Coot Emsley, P.; Lohkamp, B.; Scott, W. G. Acta Crystallographica Section D Biological Crystallography, Vol. 66, Issue 4 https://doi.org/10.1107/S0907444910007493	journal	March 2010
Structure of the topoisomerase VI-B subunit: implications for type II topoisomerase mechanism and evolution Corbett, K. D. The EMBO Journal, Vol. 22, Issue 1 https://doi.org/10.1093/emboj/cdg008	journal	January 2003
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene Drost, Mark; Koppejan, Hester; de Wind, Niels Human Mutation, Vol. 34, Issue 11 https://doi.org/10.1002/humu.22426	journal	September 2013
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair Deschênes, Suzanne M.; Tomer, Guy; Nguyen, Megan Cancer Letters, Vol. 249, Issue 2 https://doi.org/10.1016/j.canlet.2006.08.008	journal	May 2007
DNA mismatch repair: Molecular mechanism, cancer, and ageing Hsieh, Peggy; Yamane, Kazuhiko Mechanisms of Ageing and Development, Vol. 129, Issue 7-8 https://doi.org/10.1016/j.mad.2008.02.012	journal	July 2008
PHENIX: a comprehensive Python-based system for macromolecular structure solution Adams, Paul D.; Afonine, Pavel V.; Bunkóczi, Gábor Acta Crystallographica Section D Biological Crystallography, Vol. 66, Issue 2, p. 213-221 https://doi.org/10.1107/S0907444909052925	journal	January 2010
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 Bellacosa, A.; Cicchillitti, L.; Schepis, F. Proceedings of the National Academy of Sciences, Vol. 96, Issue 7 https://doi.org/10.1073/pnas.96.7.3969	journal	March 1999
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene D'Arcy, Brandon M.; Blount, Jessa; Prakash, Aishwarya Human Mutation, Vol. 40, Issue 4 https://doi.org/10.1002/humu.23708	journal	January 2019
Endonucleolytic Function of MutLα in Human Mismatch Repair Kadyrov, Farid A.; Dzantiev, Leonid; Constantin, Nicoleta Cell, Vol. 126, Issue 2 https://doi.org/10.1016/j.cell.2006.05.039	journal	July 2006
GHKL, an emergent ATPase/kinase superfamily Dutta, R.; Inouye, M. Trends in Biochemical Sciences, Vol. 25, Issue 1 https://doi.org/10.1016/S0968-0004(99)01503-0	journal	January 2000
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods Arora, Sanjeevani; Huwe, Peter J.; Sikder, Rahmat Cancer Biology & Therapy, Vol. 18, Issue 7 https://doi.org/10.1080/15384047.2017.1326439	journal	May 2017
Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility Mio, Catia; Verrienti, Antonella; Pecce, Valeria Endocrine, Vol. 73, Issue 3 https://doi.org/10.1007/s12020-021-02705-1	journal	April 2021
Identification of mismatch repair genes and their role in the development of cancer Fishel, Richard; Kolodner, Richard D. Current Opinion in Genetics & Development, Vol. 5, Issue 3 https://doi.org/10.1016/0959-437X(95)80055-7	journal	June 1995
MolProbity : all-atom structure validation for macromolecular crystallography Chen, Vincent B.; Arendall, W. Bryan; Headd, Jeffrey J. Acta Crystallographica Section D Biological Crystallography, Vol. 66, Issue 1 https://doi.org/10.1107/S0907444909042073	journal	December 2009
Interaction of proliferating cell nuclear antigen with PMS2 is required for MutLα activation and function in mismatch repair Genschel, Jochen; Kadyrova, Lyudmila Y.; Iyer, Ravi R. Proceedings of the National Academy of Sciences, Vol. 114, Issue 19 https://doi.org/10.1073/pnas.1702561114	journal	April 2017
Mechanisms and functions of DNA mismatch repair Li, Guo-Min Cell Research, Vol. 18, Issue 1 https://doi.org/10.1038/cr.2007.115	journal	December 2007
Cancer Risks for PMS2 -Associated Lynch Syndrome ten Broeke, Sanne W.; van der Klift, Heleen M.; Tops, Carli M. J. Journal of Clinical Oncology, Vol. 36, Issue 29 https://doi.org/10.1200/JCO.2018.78.4777	journal	October 2018
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer Yurgelun, Matthew B.; Kulke, Matthew H.; Fuchs, Charles S. Journal of Clinical Oncology, Vol. 35, Issue 10 https://doi.org/10.1200/JCO.2016.71.0012	journal	April 2017
Genomic Organization of the HumanPMS2Gene Family Nicolaides, Nicholas C.; Carter, Kenneth C.; Shell, Brenda K. Genomics, Vol. 30, Issue 2 https://doi.org/10.1006/geno.1995.9885	journal	November 1995
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DMA mismatch repair Prolla, Tomas A.; Baker, Sean M.; Harris, Allie C. Nature Genetics, Vol. 18, Issue 3 https://doi.org/10.1038/ng0398-276	journal	March 1998
DNA Mismatch Repair: Molecular Mechanisms and Biological Function Schofield, Mark J.; Hsieh, Peggy Annual Review of Microbiology, Vol. 57, Issue 1 https://doi.org/10.1146/annurev.micro.57.030502.090847	journal	October 2003
In vitro studies of DNA mismatch repair proteins Geng, Hui; Du, Chunwei; Chen, Siying Analytical Biochemistry, Vol. 413, Issue 2 https://doi.org/10.1016/j.ab.2011.02.017	journal	June 2011
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario Lerner-Ellis, Jordan; Mighton, Chloe; Lazaro, Conxi Journal of Cancer Research and Clinical Oncology, Vol. 147, Issue 3 https://doi.org/10.1007/s00432-020-03377-6	journal	September 2020
The mutational constraint spectrum quantified from variation in 141,456 humans Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace Nature, Vol. 581, Issue 7809 https://doi.org/10.1038/s41586-020-2308-7	journal	May 2020
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2 Kondo, E. Nucleic Acids Research, Vol. 29, Issue 8 https://doi.org/10.1093/nar/29.8.1695	journal	April 2001
Biochemistry and genetics of eukaryotic mismatch repair. Kolodner, R. Genes & Development, Vol. 10, Issue 12 https://doi.org/10.1101/gad.10.12.1433	journal	June 1996
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination Péron, Sophie; Metin, Ayse; Gardès, Pauline Journal of Experimental Medicine, Vol. 205, Issue 11 https://doi.org/10.1084/jem.20080789	journal	September 2008
Transformation of MutL by ATP Binding and Hydrolysis Ban, Changill; Junop, Murray; Yang, Wei Cell, Vol. 97, Issue 1 https://doi.org/10.1016/S0092-8674(00)80717-5	journal	April 1999
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer Maxwell, Kara N.; Hart, Steven N.; Vijai, Joseph The American Journal of Human Genetics, Vol. 98, Issue 5 https://doi.org/10.1016/j.ajhg.2016.02.024	journal	May 2016
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome: HANSEN et al. Hansen, Maren F.; Johansen, Jostein; Sylvander, Anna E. Clinical Genetics, Vol. 92, Issue 4 https://doi.org/10.1111/cge.12994	journal	March 2017
Structural Dissection of ATP Turnover in the Prototypical GHL ATPase TopoVI Corbett, Kevin D.; Berger, James M. Structure, Vol. 13, Issue 6 https://doi.org/10.1016/j.str.2005.03.013	journal	June 2005
Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair Mohd, Azizah B.; Palama, Brett; Nelson, Scott E. DNA Repair, Vol. 5, Issue 3 https://doi.org/10.1016/j.dnarep.2005.11.001	journal	March 2006
The changing landscape of Lynch syndrome due to PMS2 mutations Blount, J.; Prakash, A. Clinical Genetics, Vol. 94, Issue 1 https://doi.org/10.1111/cge.13205	journal	March 2018
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes Castéra, Laurent; Krieger, Sophie; Rousselin, Antoine European Journal of Human Genetics, Vol. 22, Issue 11 https://doi.org/10.1038/ejhg.2014.16	journal	February 2014
Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin Shimodaira, Hideki; Yoshioka-Yamashita, Atsuko; Kolodner, Richard D. Proceedings of the National Academy of Sciences, Vol. 100, Issue 5 https://doi.org/10.1073/pnas.0438031100	journal	February 2003
A Versatile Viral System for Expression and Depletion of Proteins in Mammalian Cells Campeau, Eric; Ruhl, Victoria E.; Rodier, Francis PLoS ONE, Vol. 4, Issue 8 https://doi.org/10.1371/journal.pone.0006529	journal	August 2009
Mammalian DNA Mismatch Repair Buermeyer, Andrew B.; Deschênes, Suzanne M.; Baker, Sean M. Annual Review of Genetics, Vol. 33, Issue 1 https://doi.org/10.1146/annurev.genet.33.1.533	journal	December 1999
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase Guarne, A. The EMBO Journal, Vol. 20, Issue 19 https://doi.org/10.1093/emboj/20.19.5521	journal	October 2001
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 Richards, Sue; Aziz, Nazneen; Bale, Sherri Genetics in Medicine, Vol. 17, Issue 5 https://doi.org/10.1038/gim.2015.30	journal	March 2015
DNA Polymerase δ Is Required for Human Mismatch Repair in Vitro Longley, Matthew J.; Pierce, Andrew J.; Modrich, Paul Journal of Biological Chemistry, Vol. 272, Issue 16 https://doi.org/10.1074/jbc.272.16.10917	journal	April 1997
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 Tung, Nadine; Battelli, Chiara; Allen, Brian Cancer, Vol. 121, Issue 1 https://doi.org/10.1002/cncr.29010	journal	September 2014
Single-molecule imaging reveals the mechanism of Exo1 regulation by single-stranded DNA binding proteins Myler, Logan R.; Gallardo, Ignacio F.; Zhou, Yi Proceedings of the National Academy of Sciences, Vol. 113, Issue 9 https://doi.org/10.1073/pnas.1516674113	journal	February 2016
Easy quantitative assessment of genome editing by sequence trace decomposition Brinkman, Eva K.; Chen, Tao; Amendola, Mario Nucleic Acids Research, Vol. 42, Issue 22 https://doi.org/10.1093/nar/gku936	journal	October 2014
Mutation of a mutL homolog in hereditary colon cancer Papadopoulos, N.; Nicolaides, N.; Wei, Y. Science, Vol. 263, Issue 5153 https://doi.org/10.1126/science.8128251	journal	March 1994
Towards automated crystallographic structure refinement with phenix.refine Afonine, Pavel V.; Grosse-Kunstleve, Ralf W.; Echols, Nathaniel Acta Crystallographica Section D Biological Crystallography, Vol. 68, Issue 4 https://doi.org/10.1107/S0907444912001308	journal	March 2012
A Naturally Occurring hPMS2 Mutation Can Confer a Dominant Negative Mutator Phenotype Nicolaides, Nicholas C.; Littman, Susan J.; Modrich, Paul Molecular and Cellular Biology, Vol. 18, Issue 3 https://doi.org/10.1128/MCB.18.3.1635	journal	March 1998
Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2 Hinrichsen, Inga; Weßbecher, Isabel M.; Huhn, Meik Molecular Carcinogenesis, Vol. 56, Issue 12 https://doi.org/10.1002/mc.22709	journal	September 2017
Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer Peltomaki, P.; Vasen, Hf Gastroenterology, Vol. 113, Issue 4 https://doi.org/10.1053/gast.1997.v113.pm9322509	journal	October 1997
Conservation of functional asymmetry in the mammalian MutLα ATPase Johnson, Jennifer R.; Erdeniz, Naz; Nguyen, Megan DNA Repair, Vol. 9, Issue 11 https://doi.org/10.1016/j.dnarep.2010.08.006	journal	November 2010
Mismatch Repair in Replication Fidelity, Genetic Recombination, and Cancer Biology Modrich, Paul; Lahue, Robert Annual Review of Biochemistry, Vol. 65, Issue 1 https://doi.org/10.1146/annurev.bi.65.070196.000533	journal	June 1996
Crystal Structure and ATPase Activity of MutL Ban, Changill; Yang, Wei Cell, Vol. 95, Issue 4 https://doi.org/10.1016/S0092-8674(00)81621-9	journal	November 1998
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance van Oers, Johanna M. M.; Roa, Sergio; Werling, Uwe Proceedings of the National Academy of Sciences, Vol. 107, Issue 30 https://doi.org/10.1073/pnas.1008589107	journal	July 2010
Deficient DNA mismatch repair: a common etiologic factor for colon cancer Peltomaki, P. Human Molecular Genetics, Vol. 10, Issue 7 https://doi.org/10.1093/hmg/10.7.735	journal	April 2001
In vitro and in vivo studies of MutS, MutL and MutH mutants: correlation of mismatch repair and DNA recombination Junop, M. DNA Repair, Vol. 2, Issue 4 https://doi.org/10.1016/S1568-7864(02)00245-8	journal	April 2003
Milestones of Lynch syndrome: 1895–2015 Lynch, Henry T.; Snyder, Carrie L.; Shaw, Trudy G. Nature Reviews Cancer, Vol. 15, Issue 3 https://doi.org/10.1038/nrc3878	journal	February 2015
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database Dominguez-Valentin, Mev; Sampson, Julian R.; Seppälä, Toni T. Genetics in Medicine, Vol. 22, Issue 1 https://doi.org/10.1038/s41436-019-0596-9	journal	January 2020
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability Stafford, Jaime L.; Dyson, Gregory; Levin, Nancy K. PLOS ONE, Vol. 12, Issue 6 https://doi.org/10.1371/journal.pone.0178450	journal	June 2017
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer Rummel, Seth K.; Lovejoy, Leann; Shriver, Craig D. Breast Cancer Research and Treatment, Vol. 164, Issue 3 https://doi.org/10.1007/s10549-017-4291-8	journal	May 2017
The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa Gastroenterology, Vol. 135, Issue 2 https://doi.org/10.1053/j.gastro.2008.04.026	journal	August 2008
Eukaryotic Mismatch Repair in Relation to DNA Replication Kunkel, Thomas A.; Erie, Dorothy A. Annual Review of Genetics, Vol. 49, Issue 1 https://doi.org/10.1146/annurev-genet-112414-054722	journal	November 2015
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America Rossi, Benedito Mauro; Palmero, Edenir Inêz; López-Kostner, Francisco BMC Cancer, Vol. 17, Issue 1 https://doi.org/10.1186/s12885-017-3599-4	journal	September 2017
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Li, G. M.; Modrich, P. Proceedings of the National Academy of Sciences, Vol. 92, Issue 6 https://doi.org/10.1073/pnas.92.6.1950	journal	March 1995
Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas Huelsman, Karen M.; Basil, Jack B.; Sisson, Rebecca Journal of Personalized Medicine, Vol. 11, Issue 7 https://doi.org/10.3390/jpm11070634	journal	July 2021

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