Genomes and Genes
dna repair enzymes
Summary: Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
- Velez Cruz R, Egly J. Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. Mech Ageing Dev. 2013;134:234-42 pubmed publisher..Moreover, the study of CS could further our knowledge of the aging process. ..
- Kristensen L, Treppendahl M, Asmar F, Girkov M, Nielsen H, Kjeldsen T, et al. Investigation of MGMT and DAPK1 methylation patterns in diffuse large B-cell lymphoma using allelic MSP-pyrosequencing. Sci Rep. 2013;3:2789 pubmed publisher..04), and DAPK1 methylation of the A-allele was associated with shorter overall survival (p-value=0.006). In future cancer research allelic MSP-pyrosequencing may be used to study a wide range of other loci. ..
- Parsons J, Dianov G. Co-ordination of base excision repair and genome stability. DNA Repair (Amst). 2013;12:326-33 pubmed publisher..In this review we will summarise recent evidence discovering novel mechanisms that are involved in maintaining genome stability by regulation of the key BER proteins in response to DNA damage. ..
- Bourn R, De Biase I, Pinto R, Sandi C, Al Mahdawi S, Pook M, et al. Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS ONE. 2012;7:e47085 pubmed publisher..We conclude that Pms2 specifically suppresses large expansions of a pathogenic trinucleotide repeat sequence in neuronal tissues, possibly acting independently of the canonical MMR pathway. ..
- Zhang W, Zhang J, Hoadley K, Kushwaha D, Ramakrishnan V, Li S, et al. miR-181d: a predictive glioblastoma biomarker that downregulates MGMT expression. Neuro Oncol. 2012;14:712-9 pubmed publisher..Together, these results suggest that miR-181d is a predictive biomarker for TMZ response and that its role is mediated, in part, by posttranscriptional regulation of MGMT. ..
- Mulholland S, Pearson D, Hamoudi R, Malley D, Smith C, Weaver J, et al. MGMT CpG island is invariably methylated in adult astrocytic and oligodendroglial tumors with IDH1 or IDH2 mutations. Int J Cancer. 2012;131:1104-13 pubmed publisher..We suggest that MGMT methylation may be one of the earliest events in the development of astrocytic and oligodendroglial tumors. ..
- Rosty C, Buchanan D, Walsh M, Pearson S, Pavluk E, Walters R, et al. Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol. 2012;36:876-82 pubmed publisher..003). Patients with SPS referred to genetics clinics had a pancolonic disease with a high polyp burden and a high rate of BRAF mutation. The occurrence of CRC was associated with the presence of conventional adenoma. ..
- Wang C, George B, Chen S, Feng B, Li X, Chakrabarti S. Genotoxic stress and activation of novel DNA repair enzymes in human endothelial cells and in the retinas and kidneys of streptozotocin diabetic rats. Diabetes Metab Res Rev. 2012;28:329-37 pubmed publisher..ERCC1 and ERCC4 may play important roles in the development of diabetic retinopathy and nephropathy. ..
- Xie W, Ling T, Zhou Y, Feng W, Zhu Q, Stunnenberg H, et al. The chromatin remodeling complex NuRD establishes the poised state of rRNA genes characterized by bivalent histone modifications and altered nucleosome positions. Proc Natl Acad Sci U S A. 2012;109:8161-6 pubmed publisher..The results uncover a unique mechanism by which ATP-dependent chromatin remodeling complexes with opposing activities establish a specific chromatin state and regulate transcription. ..
- Wick W, Platten M, Meisner C, Felsberg J, Tabatabai G, Simon M, et al. Temozolomide chemotherapy alone versus radiotherapy alone for malignant astrocytoma in the elderly: the NOA-08 randomised, phase 3 trial. Lancet Oncol. 2012;13:707-15 pubmed publisher..MGMT promoter methylation seems to be a useful biomarker for outcomes by treatment and could aid decision-making. Merck Sharp & Dohme. ..
- Bady P, Sciuscio D, Diserens A, Bloch J, van den Bent M, Marosi C, et al. MGMT methylation analysis of glioblastoma on the Infinium methylation BeadChip identifies two distinct CpG regions associated with gene silencing and outcome, yielding a prediction model for comparisons across datasets, tumor grades, and CIMP-status. Acta Neuropathol. 2012;124:547-60 pubmed publisher
- O Mara T, Ferguson K, Fahey P, Marquart L, Yang H, Lissowska J, et al. CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk. Twin Res Hum Genet. 2011;14:328-32 pubmed publisher..Our findings suggest that the CHEK2 SNP rs8135424 be prioritized for further study as a genetic factor associated with risk of endometrial cancer. ..
- Kim Y, Kim S, Cho J, Kim J, Chang J, Kim D, et al. MGMT gene promoter methylation as a potent prognostic factor in glioblastoma treated with temozolomide-based chemoradiotherapy: a single-institution study. Int J Radiat Oncol Biol Phys. 2012;84:661-7 pubmed publisher..2 months. We confirmed that MGMT gene methylation is a potent prognostic factor in patients with GBM. Our results suggest that early postoperative radiotherapy and a high total/subtotal resection rate might further improve the outcome. ..
- Schonhoft J, Stivers J. Timing facilitated site transfer of an enzyme on DNA. Nat Chem Biol. 2012;8:205-10 pubmed publisher..In addition, the data establish that the DNA phosphate backbone is a sufficient requirement for DNA sliding. ..
- Scheibye Knudsen M, Ramamoorthy M, Sykora P, Maynard S, Lin P, Minor R, et al. Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. J Exp Med. 2012;209:855-69 pubmed publisher..Our data imply that CSB acts as an mtDNA damage sensor, inducing mitochondrial autophagy in response to stress, and that pharmacological modulators of autophagy are potential treatment options for this accelerated aging phenotype. ..
- Javeri A, Lyons J, Huang X, Halliday G. Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. Cancer Sci. 2011;102:1651-8 pubmed publisher..Cockayne syndrome B regulation of DNA repair could contribute to the effect of UVA in causing mutations that lead to skin cancer in humans. ..
- Balañá C, Carrato C, Ramirez J, Cardona A, Berdiel M, Sanchez J, et al. Tumour and serum MGMT promoter methylation and protein expression in glioblastoma patients. Clin Transl Oncol. 2011;13:677-85 pubmed publisher..Serum-based MGMT methylation analysis offers a promising alternative to tumor-based MGMT analysis in cases where tissue samples are unavailable. ..
- Cremona C, Sarangi P, Yang Y, Hang L, Rahman S, Zhao X. Extensive DNA damage-induced sumoylation contributes to replication and repair and acts in addition to the mec1 checkpoint. Mol Cell. 2012;45:422-32 pubmed publisher..We also show that DNA damage-induced sumoylation does not require Mec1 checkpoint signaling, and the presence of both enables optimal DNA damage resistance. ..
- Mellai M, Piazzi A, Caldera V, Monzeglio O, Cassoni P, Valente G, et al. IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors. J Neurooncol. 2011;105:345-57 pubmed publisher..The mIDH1(R132H) antibody positivity was complementary with Cyclin D1 expression. ..
- Hammel M, Rey M, Yu Y, Mani R, Classen S, Liu M, et al. XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair. J Biol Chem. 2011;286:32638-50 pubmed publisher..Collective results reveal how human XLF and XRCC4 interact to bind DNA, suggest consequences of patient mutations, and support a unified molecular mechanism for XLF-XRCC4 stimulation of DNA ligation. ..
- SengerovÃ¡ B, Allerston C, Abu M, Lee S, Hartley J, Kiakos K, et al. Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases. J Biol Chem. 2012;287:26254-67 pubmed publisher..Together, our work establishes differences in the substrate selectivities of SNM1A and SNM1B that are likely to be relevant to their in vivo roles and which might be exploited in the development of selective inhibitors. ..
- Muñoz Galvan S, Tous C, Blanco M, Schwartz E, Ehmsen K, West S, et al. Distinct roles of Mus81, Yen1, Slx1-Slx4, and Rad1 nucleases in the repair of replication-born double-strand breaks by sister chromatid exchange. Mol Cell Biol. 2012;32:1592-603 pubmed publisher..These unique effects, which have not been detected in other studies unless double mutant combinations were used, indicate the formation of distinct alternatives for the repair of replication-born DSBs that require specific SSEs. ..
- Reifenberger G, Hentschel B, Felsberg J, Schackert G, Simon M, Schnell O, et al. Predictive impact of MGMT promoter methylation in glioblastoma of the elderly. Int J Cancer. 2012;131:1342-50 pubmed publisher..Taken together, MGMT promoter methylation may be a useful biomarker to stratify elderly glioblastoma patients for treatment with versus without alkylating agent CT. ..
- David C, Boyne A, MILLHOUSE S, Manley J. The RNA polymerase II C-terminal domain promotes splicing activation through recruitment of a U2AF65-Prp19 complex. Genes Dev. 2011;25:972-83 pubmed publisher..Our results not only provide a mechanism by which the CTD enhances splicing, but also describe unexpected interactions important for splicing and its coupling to transcription. ..
- Guo Z, Kanjanapangka J, Liu N, Liu S, Liu C, Wu Z, et al. Sequential posttranslational modifications program FEN1 degradation during cell-cycle progression. Mol Cell. 2012;47:444-56 pubmed publisher..These findings may represent a newly identified regulatory mechanism used by cells to ensure precise cell-cycle progression and to prevent transformation. ..
- van den Bent M, Gravendeel L, Gorlia T, Kros J, Lapre L, Wesseling P, et al. A hypermethylated phenotype is a better predictor of survival than MGMT methylation in anaplastic oligodendroglial brain tumors: a report from EORTC study 26951. Clin Cancer Res. 2011;17:7148-55 pubmed publisher..Methylation profiling therefore may help identify AODs and AOAs with improved prognosis. ..
- Orans J, McSweeney E, Iyer R, Hast M, Hellinga H, Modrich P, et al. Structures of human exonuclease 1 DNA complexes suggest a unified mechanism for nuclease family. Cell. 2011;145:212-23 pubmed publisher..The relative arrangement of substrate binding sites in these enzymes provides an elegant solution to a complex geometrical puzzle of substrate recognition and processing. ..
- Bailey A, Gray L, Pavelitz T, Newman J, Horibata K, Tanaka K, et al. The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. DNA Repair (Amst). 2012;11:488-501 pubmed publisher..Our data suggest that the CSB-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome. ..
- Andersen S, Keijzers G, Rampakakis E, Engels K, Luhn P, El Shemerly M, et al. 14-3-3 checkpoint regulatory proteins interact specifically with DNA repair protein human exonuclease 1 (hEXO1) via a semi-conserved motif. DNA Repair (Amst). 2012;11:267-77 pubmed publisher..Altogether, these results suggest that association may be related to regulation of hEXO1 availability during the DNA damage response to plausibly prevent extensive DNA resection at the damage site, as supported by recent studies. ..
- Ropars V, Drevet P, Legrand P, Baconnais S, Amram J, Faure G, et al. Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining. Proc Natl Acad Sci U S A. 2011;108:12663-8 pubmed publisher..These findings provide new insights into the molecular bases for stimulatory and bridging roles of Cernunnos in the final DNA ligation step. ..
- Kantartzis A, Williams G, Balakrishnan L, Roberts R, Surtees J, Bambara R. Msh2-Msh3 interferes with Okazaki fragment processing to promote trinucleotide repeat expansions. Cell Rep. 2012;2:216-22 pubmed publisher..We believe that this is the first mechanistic evidence showing the interplay of replication and repair proteins in the expansion of sequences during lagging-strand DNA replication. ..
- McDonald K, Rapkins R, Olivier J, Zhao L, Nozue K, Lu D, et al. The T genotype of the MGMT C>T (rs16906252) enhancer single-nucleotide polymorphism (SNP) is associated with promoter methylation and longer survival in glioblastoma patients. Eur J Cancer. 2013;49:360-8 pubmed publisher..An independent validation on larger cohorts is required to confirm the prognostic and predictive value of individuals carrying the T allele. ..
- Segal Raz H, Mass G, Baranes Bachar K, Lerenthal Y, Wang S, Chung Y, et al. ATM-mediated phosphorylation of polynucleotide kinase/phosphatase is required for effective DNA double-strand break repair. EMBO Rep. 2011;12:713-9 pubmed publisher..These findings show a direct functional link between ATM and the DSB-repair machinery. ..
- Svensson L, Jemth A, Desroses M, Loseva O, Helleday T, Högbom M, et al. Crystal structure of human MTH1 and the 8-oxo-dGMP product complex. FEBS Lett. 2011;585:2617-21 pubmed publisher..The binding of the product induces no major structural changes. The structures reveal the mode of nucleotide binding in MTH1 and provide the structural basis for inhibitor design. ..
- Parlanti E, D Errico M, Degan P, Calcagnile A, Zijno A, van der Pluijm I, et al. The cross talk between pathways in the repair of 8-oxo-7,8-dihydroguanine in mouse and human cells. Free Radic Biol Med. 2012;53:2171-7 pubmed publisher..Moreover, we provide the first evidence of an involvement of XPA in the control of oxidatively damaged DNA in human primary cells. ..
- Song X, Zhang L, Liu D, Lin J, Zheng J, Dai D, et al. Oxidative damage to RNA and expression patterns of MTH1 in the hippocampi of senescence-accelerated SAMP8 mice and Alzheimer's disease patients. Neurochem Res. 2011;36:1558-65 pubmed publisher..These results suggest that MTH1 deficiency might be a causative factor for aging and age-related disorders. ..
- Mason J, Sekiguchi J. Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. Hum Mol Genet. 2011;20:2549-59 pubmed publisher..Our findings demonstrate that SNM1B functions within the FA pathway during the repair of ICL damage. ..
- Giri N, Sun H, Chen H, Costa M, Maroney M. X-ray absorption spectroscopy structural investigation of early intermediates in the mechanism of DNA repair by human ABH2. Biochemistry. 2011;50:5067-76 pubmed publisher..However, in the case of the Ni(II)-substituted enzyme, the complex that forms in the presence of the cofactor and substrate is six-coordinate and, therefore, features no open coordination site for oxygen activation at the metal. ..
- Xu J, Mo Z, Ye D, Wang M, Liu F, Jin G, et al. Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4. Nat Genet. 2012;44:1231-5 pubmed publisher..These findings may advance the understanding of genetic susceptibility to prostate cancer. ..
- Niyazi M, Schnell O, Suchorska B, Schwarz S, Ganswindt U, Geisler J, et al. FET-PET assessed recurrence pattern after radio-chemotherapy in newly diagnosed patients with glioblastoma is influenced by MGMT methylation status. Radiother Oncol. 2012;104:78-82 pubmed publisher..15). After the administration of temozolomide concomitant with and adjuvant to radiotherapy in patients with glioblastoma, the pattern determined by [(18)F]FET-PET seems to be associated with MGMT methylation status. ..
- Latini P, Frontini M, Caputo M, Gregan J, Cipak L, Filippi S, et al. CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination. Cell Cycle. 2011;10:3719-30 pubmed publisher..The deregulation of p53, in absence of either of the CS proteins, can potentially explain the early onset degeneration of tissues and organs observed in CS patients. ..
- Dango S, Mosammaparast N, Sowa M, Xiong L, Wu F, Park K, et al. DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation. Mol Cell. 2011;44:373-84 pubmed publisher..X and 53BP1 foci formation. Our data provide a molecular mechanism by which ALKBH3 collaborates with ASCC to maintain genomic integrity in a cell-type specific manner. ..
- Lammens K, Bemeleit D, Möckel C, Clausing E, Schele A, Hartung S, et al. The Mre11:Rad50 structure shows an ATP-dependent molecular clamp in DNA double-strand break repair. Cell. 2011;145:54-66 pubmed publisher..The results suggest that MR is an ATP-controlled transient molecular clamp at DNA double-strand breaks...
- Skiriute D, Vaitkiene P, Saferis V, Asmoniene V, Skauminas K, Deltuva V, et al. MGMT, GATA6, CD81, DR4, and CASP8 gene promoter methylation in glioblastoma. BMC Cancer. 2012;12:218 pubmed publisher..High methylation frequency of tested genes shows heterogeneity of glioblastoma epigenome and the importance of MGMT, GATA6 and CASP8 genes methylation in glioblastoma patient outcome. ..
- Murakami Y, Ikeda Y, Yoshida N, Notomi S, Hisatomi T, Oka S, et al. MutT homolog-1 attenuates oxidative DNA damage and delays photoreceptor cell death in inherited retinal degeneration. Am J Pathol. 2012;181:1378-86 pubmed publisher..oxidative DNA damage is an important process for the triggering of photoreceptor cell death in rd10 mice and suggest that stimulation of DNA repair enzymes may be a novel therapeutic approach to attenuate photoreceptor cell loss in RP.
- Cecener G, Tunca B, Egeli U, Bekar A, Tezcan G, Erturk E, et al. The promoter hypermethylation status of GATA6, MGMT, and FHIT in glioblastoma. Cell Mol Neurobiol. 2012;32:237-44 pubmed publisher..Furthermore, inactivation of FHIT by epigenetic mechanisms in GBM may not be associated with brain tumorigenesis. ..
- Felsberg J, Thon N, Eigenbrod S, Hentschel B, Sabel M, Westphal M, et al. Promoter methylation and expression of MGMT and the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary and recurrent glioblastomas. Int J Cancer. 2011;129:659-70 pubmed publisher..In conclusion, reduced expression of MMR proteins, but not changes in MGMT promoter methylation, is characteristic of glioblastomas recurring after the current standards of care. ..