DNA polymerase delta Exo domain stabilizes mononucleotide microsatellites in human cells
Tài liệu tham khảo
Li, 2002, Microsatellites: genomic distribution, putative functions and mutational mechanisms: a review, Mol. Ecol., 11, 2453, 10.1046/j.1365-294X.2002.01643.x
Streisinger, 1966, Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday, Cold Spring Harb. Symp. Quant. Biol., 31, 77, 10.1101/SQB.1966.031.01.014
Streisinger, 1985, Mechanisms of spontaneous and induced frameshift mutation in bacteriophage T4, Genetics, 109, 633, 10.1093/genetics/109.4.633
Scheuermann, 1983, Identification of the epsilon-subunit of Escherichia coli DNA polymerase III holoenzyme as the dnaQ gene product: a fidelity subunit for DNA replication, Proc. Natl. Acad. Sci. U. S. A., 80, 7085, 10.1073/pnas.80.23.7085
Aaltonen, 1993, Clues to the pathogenesis of familial colorectal cancer, Science (New York, N.Y.), 260, 812, 10.1126/science.8484121
Fishel, 1994, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, 77, 1
Leach, 1993, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell, 75, 1215, 10.1016/0092-8674(93)90330-S
Yang, 1992, Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase delta, Nucleic Acids Res., 20, 735, 10.1093/nar/20.4.735
Fowler, 1986, Characterization of mutational specificity within the lacI gene for a mutD5 mutator strain of Escherichia coli defective in 3’----5’ exonuclease (proofreading) activity, J. Bacteriol., 167, 130, 10.1128/jb.167.1.130-137.1986
Mo, 1991, Mutational specificity of the dnaE173 mutator associated with a defect in the catalytic subunit of DNA polymerase III of Escherichia coli, J. Mol. Biol., 222, 925, 10.1016/0022-2836(91)90586-U
Schaaper, 1987, Spectra of spontaneous mutations in Escherichia coli strains defective in mismatch correction: the nature of in vivo DNA replication errors, Proc. Natl. Acad. Sci. U. S. A., 84, 6220, 10.1073/pnas.84.17.6220
Tran, 1997, Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants, Mol. Cell. Biol., 17, 2859, 10.1128/MCB.17.5.2859
Ran, 2013, Genome engineering using the CRISPR-Cas9 system, Nat. Protoc., 8, 2281, 10.1038/nprot.2013.143
Boyer, 1995, Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines, Cancer Res., 55, 6063
Yoshida, 2011, Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer, Eur. J. Hum. Genet., 19, 320, 10.1038/ejhg.2010.216
de Wind, 1995, Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer, Cell, 82, 321, 10.1016/0092-8674(95)90319-4
Oda, 1997, Precise assessment of microsatellite instability using high resolution fluorescent microsatellite analysis, Nucleic Acids Res., 25, 3415, 10.1093/nar/25.17.3415
Hayashida, 2019, Differential genomic destabilisation in human cells with pathogenic MSH2 mutations introduced by genome editing, Exp. Cell Res., 377, 24, 10.1016/j.yexcr.2019.02.020
Shioi, 2021, Precision length determination and in silico simulation in PCR of microsatellite repeat sequences, Electrophoresis, 10.1002/elps.202100021
Bradford, 1976, A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding, Anal. Biochem., 72, 248, 10.1016/0003-2697(76)90527-3
Laemmli, 1970, Cleavage of structural proteins during the assembly of the head of bacteriophage T4, Nature, 227, 680, 10.1038/227680a0
Rossman, 1995, Modeling and measurement of the spontaneous mutation rate in mammalian cells, Mutat. Res., 328, 21, 10.1016/0027-5107(94)00190-G
Oki, 1999, Mutated gene-specific phenotypes of dinucleotide repeat instability in human colorectal carcinoma cell lines deficient in DNA mismatch repair, Oncogene, 18, 2143, 10.1038/sj.onc.1202583
Daee, 2010, A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability, Proc. Natl. Acad. Sci. U. S. A., 107, 157, 10.1073/pnas.0907526106
Parsons, 1995, Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer, Cancer Res., 55, 5548
Markowitz, 1995, Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability, Science (New York, N.Y.), 268, 1336, 10.1126/science.7761852
Kroutil, 1996, Exonucleolytic proofreading during replication of repetitive DNA, Biochemistry, 35, 1046, 10.1021/bi952178h
Kunkel, 1994, Error-prone replication of repeated DNA sequences by T7 DNA polymerase in the absence of its processivity subunit, Proc. Natl. Acad. Sci. U. S. A., 91, 6830, 10.1073/pnas.91.15.6830
Garg, 2005, DNA polymerases that propagate the eukaryotic DNA replication fork, Crit. Rev. Biochem. Mol. Biol., 40, 115, 10.1080/10409230590935433
Swan, 2009, Structural basis of high-fidelity DNA synthesis by yeast DNA polymerase delta, Nat. Struct. Mol. Biol., 16, 979, 10.1038/nsmb.1663
Flohr, 1999, Detection of mutations in the DNA polymerase delta gene of human sporadic colorectal cancers and colon cancer cell lines, Int. J. Cancer, 80, 919, 10.1002/(SICI)1097-0215(19990315)80:6<919::AID-IJC19>3.0.CO;2-U
Deka, 1995, Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations, Am. J. Hum. Genet., 56, 461
Strand, 1993, Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair, Nature, 365, 274, 10.1038/365274a0
Palombo, 1995, GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells, Science (New York, N.Y.), 268, 1912, 10.1126/science.7604265
Drummond, 1995, Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells, Science (New York, N.Y.), 268, 1909, 10.1126/science.7604264
Genschel, 1998, Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha, J. Biol. Chem., 273, 19895, 10.1074/jbc.273.31.19895
Palombo, 1996, hMutSbeta, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA, Curr. Biol., 6, 1181, 10.1016/S0960-9822(02)70685-4
Boland, 1998, A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer Res., 58, 5248
Le, 2015, PD-1 blockade in tumors with mismatch-repair deficiency, N. Engl. J. Med., 372, 2509, 10.1056/NEJMoa1500596
Oda, 2005, Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability, Nucleic Acids Res., 33, 1628, 10.1093/nar/gki303