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The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions
Cells, 2021 Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]
, 2012 Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi +7 more
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Haematologica, 2010 Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma.
Tim Ripperger +7 more
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Journal of Biological Chemistry, 2015 Highly conserved MutS homologs (MSH) and MutL homologs (MLH/PMS) are the fundamental components of mismatch repair (MMR). After decades of debate, it appears clear that the MSH proteins initiate MMR by recognizing a mismatch and forming multiple extremely stable ATP-bound sliding clamps that diffuse without hydrolysis along the adjacent DNA.
openaire +2 more sources
High-resolution mapping of heteroduplex DNA formed during UV-induced and spontaneous mitotic recombination events in yeast. [PDF]
, 2017 In yeast, DNA breaks are usually repaired by homologous recombination (HR). An early step for HR pathways is formation of a heteroduplex, in which a single-strand from the broken DNA molecule pairs with a strand derived from an intact DNA molecule.
Dominska, Margaret +3 more
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Postreplicative Mismatch Repair [PDF]
Cold Spring Harbor Perspectives in Biology, 2013 The mismatch repair (MMR) system detects non-Watson-Crick base pairs and strand misalignments arising during DNA replication and mediates their removal by catalyzing excision of the mispair-containing tract of nascent DNA and its error-free resynthesis. In this way, MMR improves the fidelity of replication by several orders of magnitude.
openaire +3 more sources
Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues. [PDF]
, 1997 hMLH1 and hPMS2 are part of the DNA mismatch repair complex. Mutations in these genes have been linked to hereditary non-polyposis colon cancer; they also occur in a variety of sporadic cancers. Western blot analysis and immunohistochemistry demonstrated
Aebi, S +6 more
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Endonuclease activities of MutLα and its homologs in DNA mismatch repair. [PDF]
, 2016 MutLα is a key component of the DNA mismatch repair system in eukaryotes. The DNA mismatch repair system has several genetic stabilization functions. Of these functions, DNA mismatch repair is the major one.
Kadyrov, Farid A, Kadyrova, Lyudmila Y
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An Msh3 ATPase domain mutation has no effect on MMR function
BMC Research Notes, 2017 Objective To demonstrate that the Msh3 ATPase domain is required for DNA mismatch repair and tumor suppression in a murine model. Results The DNA mismatch repair proteins are members of the ABC family of ATPases.
Yasmin Edwards
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Conditional DNA repair mutants enable highly precise genome engineering [PDF]
, 2014 Oligonucleotide-mediated multiplex genome engineering is an important tool for bacterial genome editing. The efficient application of this technique requires the inactivation of the endogenous methyl-directed mismatch repair system that in turn leads to ...
Csorgő, Bálint +6 more
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