dna glycosylases

Summary

Summary: A family of DNA repair enzymes that recognize damaged nucleotide bases and remove them by hydrolyzing the N-glycosidic bond that attaches them to the sugar backbone of the DNA molecule. The process called BASE EXCISION REPAIR can be completed by a DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE which excises the remaining RIBOSE sugar from the DNA.

Top Publications

  1. Brinkmeyer M, Pope M, David S. Catalytic contributions of key residues in the adenine glycosylase MutY revealed by pH-dependent kinetics and cellular repair assays. Chem Biol. 2012;19:276-86 pubmed publisher
    ..The results show that MutY variations that exhibit reduced mismatch affinity result in more dramatic reductions in cellular OG:A repair than those that only compromise adenine excision catalysis. ..
  2. Li G, Yuan K, Yan C, Fox J, Gaid M, Breitwieser W, et al. 8-Oxoguanine-DNA glycosylase 1 deficiency modifies allergic airway inflammation by regulating STAT6 and IL-4 in cells and in mice. Free Radic Biol Med. 2012;52:392-401 pubmed publisher
    ..OGG-1 may affect the levels of oxidative stress and proinflammatory cytokines during asthmatic conditions. OGG-1 deficiency negatively regulates allergen-induced airway inflammatory response. ..
  3. Simonelli V, Camerini S, Mazzei F, van Loon B, Allione A, D Errico M, et al. Genotype-phenotype analysis of S326C OGG1 polymorphism: a risk factor for oxidative pathologies. Free Radic Biol Med. 2013;63:401-9 pubmed publisher
    ..Consequently, the C326 homozygous carriers may be at increased risk of oxidative pathologies. ..
  4. Romano C, Sontz P, Barton J. Mutants of the base excision repair glycosylase, endonuclease III: DNA charge transport as a first step in lesion detection. Biochemistry. 2011;50:6133-45 pubmed publisher
    ..These results demonstrate a link between the ability of the repair protein to carry out DNA CT and its ability to relocalize near lesions, thus pointing to DNA CT as a key first step in the detection of base damage in the genome. ..
  5. Cardin R, Romilda C, Piciocchi M, Marika P, Sinigaglia A, Alessandro S, et al. Oxidative DNA damage correlates with cell immortalization and mir-92 expression in hepatocellular carcinoma. BMC Cancer. 2012;12:177 pubmed publisher
  6. Liu C, Tu Y, Yuan J, Mao X, He S, Wang L, et al. Aberrant expression of N-methylpurine-DNA glycosylase influences patient survival in malignant gliomas. J Biomed Biotechnol. 2012;2012:760679 pubmed publisher
    ..001). Our data showed the over-expression of MPG gene and protein in human gliomas, and also suggested for the first time that MPG be an unfavorable independent prognostic indicator for glioma patients. ..
  7. Guan P, Huang D, Yin Z, Zhou B. Association of the hOGG1 Ser326Cys polymorphism with increased lung cancer susceptibility in Asians: a meta-analysis of 18 studies including 7592 cases and 8129 controls. Asian Pac J Cancer Prev. 2011;12:1067-72 pubmed
    ..67; 95% CI, 1.26-2.21). The results indicated that the hOGG1 Ser326Cys polymorphism might contribute to the risk of non-small cell lung cancer in the Asian population. ..
  8. Parrilla Doblas J, Ponferrada Marín M, Roldan Arjona T, Ariza R. Early steps of active DNA demethylation initiated by ROS1 glycosylase require three putative helix-invading residues. Nucleic Acids Res. 2013;41:8654-64 pubmed publisher
    ..Altogether, our results suggest that ROS1 uses three predicted helix-invading residues to actively interrogate DNA in search for 5-meC. ..
  9. Wang Z, Hu J, Cai W, Zhong J. Lack of association between the 8-oxoguanine DNA glycosylase gene Ser326Cys polymorphism and gastric cancer: evidence from a meta-analysis. Asian Pac J Cancer Prev. 2011;12:3427-31 pubmed
    ..13; 95% CI: 0.81-1.58; P=0.48). No publication bias was observed. Our results collectively suggest that the OGG1 Ser326Cys polymorphism might not be a potential candidate risk factor for the development of gastric cancer. ..

More Information

Publications62

  1. Wen X, Casey Klockow L, Nekorchuk M, Sharifi H, de Noronha C. The HIV1 protein Vpr acts to enhance constitutive DCAF1-dependent UNG2 turnover. PLoS ONE. 2012;7:e30939 pubmed publisher
  2. Ji L, Zeng X, Li L, Qiu X, Chen S, Yu H. [Interaction between the single-nucleotide polymorphism of DNA repair gene hOGG1 and HBV infection and its susceptibility to hepatocellular carcinoma]. Wei Sheng Yan Jiu. 2011;40:705-8 pubmed
    ..The synergistic interaction between hOGG1-326Cys allele and chronic HBV infection might modify the risk of HCC. Further studies with larger sample size are warranted to confirm these findings. ..
  3. Jang H, Shin H, Eichman B, Huh J. Excision of 5-hydroxymethylcytosine by DEMETER family DNA glycosylases. Biochem Biophys Res Commun. 2014;446:1067-72 pubmed publisher
    ..In Arabidopsis, the DEMETER (DME) family DNA glycosylases efficiently remove 5mC, which results in DNA demethylation and transcriptional activation of target genes...
  4. Sung R, Zhang M, Qi Y, Verdine G. Structural and biochemical analysis of DNA helix invasion by the bacterial 8-oxoguanine DNA glycosylase MutM. J Biol Chem. 2013;288:10012-23 pubmed publisher
  5. Xie H, Xia K, Rong H, Chen X. Genetic polymorphism in hOGG1 is associated with triple-negative breast cancer risk in Chinese Han women. Breast. 2013;22:707-12 pubmed publisher
    ..005). These findings suggest that the c.977C>G polymorphism in hOGG1 is associated with an increased risk of breast cancer in Chinese Han women who are younger than 55 years, premenopausal, triple-negative, or p53-positive subgroups. ..
  6. Wen S, Wen N, Pang J, Langen G, Brew Appiah R, Mejias J, et al. Structural genes of wheat and barley 5-methylcytosine DNA glycosylases and their potential applications for human health. Proc Natl Acad Sci U S A. 2012;109:20543-8 pubmed publisher
    ..6% suppression in DME transcript abundance and up to 76.4% reduction in the amount of immunogenic prolamins, demonstrating the possibility of developing wheat varieties compatible for the celiac patients...
  7. Wallace S. DNA glycosylases search for and remove oxidized DNA bases. Environ Mol Mutagen. 2013;54:691-704 pubmed publisher
    This review article presents, an overview of the DNA glycosylases that recognize oxidized DNA bases using the Fpg/Nei family of DNA glycosylases as models for how structure can inform function...
  8. Yuan T, Wei J, Luo J, Liu M, Deng S, Chen P. Polymorphisms of base-excision repair genes hOGG1 326cys and XRCC1 280His increase hepatocellular carcinoma risk. Dig Dis Sci. 2012;57:2451-7 pubmed publisher
    ..The data from the current study demonstrated the association of these two DNA repair gene polymorphisms with HCC risk. Future studies will confirm these data before they can be used as a biomarker for assessing HCC risk. ..
  9. Sampath H, McCullough A, Lloyd R. Regulation of DNA glycosylases and their role in limiting disease. Free Radic Res. 2012;46:460-78 pubmed publisher
  10. Mittal R, Mandal R, Gangwar R. Base excision repair pathway genes polymorphism in prostate and bladder cancer risk in North Indian population. Mech Ageing Dev. 2012;133:127-32 pubmed publisher
    ..However APE1 GG genotype conferred a protective association with BC susceptibility. Larger studies and the more SNPs in the same pathway are needed to verify these findings. ..
  11. Sassa A, Beard W, Prasad R, Wilson S. DNA sequence context effects on the glycosylase activity of human 8-oxoguanine DNA glycosylase. J Biol Chem. 2012;287:36702-10 pubmed publisher
    ..These results indicate that neighboring structural abnormalities 5' to 8-oxoG deter its repair thereby enhancing its mutagenic potential. ..
  12. Zhu S, Zhang H, Tang Y, Wang J. Polymorphisms in XPD and hOGG1 and prostate cancer risk: a meta-analysis. Urol Int. 2012;89:233-40 pubmed publisher
    ..XPD Asp312Asn polymorphism is associated with PCa risk in Asians and hOGG1 Ser326Cys polymorphism is associated with PCa risk in Caucasians and Asians. ..
  13. Jung S, Park N, Shin J, Park B, Kim C, Lee J, et al. Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival. J Hepatol. 2012;57:621-7 pubmed publisher
    ..46 months, respectively, p=0.002). Polymorphisms of DNA repair genes play a potential role in the development, progression, and survival of Korean HCC patients with chronic HBV infection. ..
  14. Setser J, Lingaraju G, Davis C, Samson L, Drennan C. Searching for DNA lesions: structural evidence for lower- and higher-affinity DNA binding conformations of human alkyladenine DNA glycosylase. Biochemistry. 2012;51:382-90 pubmed publisher
    ..Additionally, a higher-affinity state of AAG captured here provides a fortuitous snapshot of how this enzyme interacts with a DNA adduct that resembles a one-base loop. ..
  15. Loft S, Svoboda P, Kawai K, Kasai H, Sørensen M, Tjønneland A, et al. Association between 8-oxo-7,8-dihydroguanine excretion and risk of lung cancer in a prospective study. Free Radic Biol Med. 2012;52:167-72 pubmed publisher
    ..14 (0.98-1.34) among subjects homozygous for Cys326. The association between urinary 8-oxoGua excretion and lung cancer risk among former and never-smokers suggests that oxidative stress with damage to DNA is important in this group. ..
  16. Li Z, Guan W, Li M, Zhong Z, Qian C, Yang X, et al. Genetic polymorphism of DNA base-excision repair genes (APE1, OGG1 and XRCC1) and their correlation with risk of lung cancer in a Chinese population. Arch Med Res. 2011;42:226-34 pubmed publisher
    ..ORs were significantly reduced when all patients were analyzed (OR=0.62; 95% CI: 0.38-0.99; p=0.05). The combined effects of polymorphisms within BER genes may contribute to the tumorigenesis of lung cancer. ..
  17. Menoni H, Shukla M, Gerson V, Dimitrov S, Angelov D. Base excision repair of 8-oxoG in dinucleosomes. Nucleic Acids Res. 2012;40:692-700 pubmed publisher
    ..We show, however, that removal of histone H1 and nucleosome remodelling are both necessary and sufficient for an efficient removal of 8-oxoG in nucleosomal DNA. Finally, a model for BER of 8-oxoG in chromatin templates is suggested. ..
  18. Zhou J, Liu M, Fleming A, Burrows C, Wallace S. Neil3 and NEIL1 DNA glycosylases remove oxidative damages from quadruplex DNA and exhibit preferences for lesions in the telomeric sequence context. J Biol Chem. 2013;288:27263-72 pubmed publisher
    ..We have tested the base excision activities of five mammalian DNA glycosylases (NEIL1, NEIL2, mNeil3, NTH1, and OGG1) on these lesion-containing quadruplex substrates and found that only ..
  19. Plotz G, Casper M, Raedle J, Hinrichsen I, Heckel V, Brieger A, et al. MUTYH gene expression and alternative splicing in controls and polyposis patients. Hum Mutat. 2012;33:1067-74 pubmed publisher
    ..Since this alteration decreases protein production of the gene, an increased cancer risk for compound heterozygous carriers is possible. ..
  20. Halsne R, Esbensen Y, Wang W, Scheffler K, Suganthan R, Bjørås M, et al. Lack of the DNA glycosylases MYH and OGG1 in the cancer prone double mutant mouse does not increase mitochondrial DNA mutagenesis. DNA Repair (Amst). 2012;11:278-85 pubmed publisher
    ..OGG1 and MYH appear to be dispensable for antimutator function in mitochondria. ..
  21. Dezor M, Dorszewska J, Florczak J, Kempisty B, Jaroszewska Kolecka J, Rozycka A, et al. Expression of 8-oxoguanine DNA glycosylase 1 (OGG1) and the level of p53 and TNF-?lpha proteins in peripheral lymphocytes of patients with Alzheimer's disease. Folia Neuropathol. 2011;49:123-31 pubmed
    ..It is possible that OGG1 and p53 and TNF-? proteins together or separately may be involved in pathogenesis of AD by repair of oxidative DNA damage and/or apoptosis. ..
  22. Noren Hooten N, Kompaniez K, Barnes J, Lohani A, Evans M. Poly(ADP-ribose) polymerase 1 (PARP-1) binds to 8-oxoguanine-DNA glycosylase (OGG1). J Biol Chem. 2011;286:44679-90 pubmed publisher
    ..Furthermore, OGG1(-/-) cells were more sensitive to PARP inhibitors alone or in combination with a DNA-damaging agent. These findings indicate that OGG1 binding to PARP-1 plays a functional role in the repair of oxidative DNA damage. ..
  23. Kershaw R, Hodges N. Repair of oxidative DNA damage is delayed in the Ser326Cys polymorphic variant of the base excision repair protein OGG1. Mutagenesis. 2012;27:501-10 pubmed publisher
    ..This may have important implications for increased mutation frequency resulting from increased oxidative stress in individuals homozygous for the Cys326 hOGG1 allele. ..
  24. Leitner Dagan Y, Sevilya Z, Pinchev M, Kramer R, Elinger D, Roisman L, et al. N-methylpurine DNA glycosylase and OGG1 DNA repair activities: opposite associations with lung cancer risk. J Natl Cancer Inst. 2012;104:1765-9 pubmed publisher
    ..3 (95% CI = 1.4 to 3.6; P < .001). These results form a basis for a future panel of risk biomarkers for lung cancer risk assessment and prevention. ..
  25. Wang W, Dang S, Li Y, Sun M, Jia X, Wang R, et al. hOGG1 Ser326Cys polymorphism and risk of hepatocellular carcinoma among East Asians: a meta-analysis. PLoS ONE. 2013;8:e60178 pubmed publisher
    ..There is limited evidence to support that the hOGG1 Ser326Cys polymorphism is associated with HCC risk among East Asians. Well-designed and large-sized studies are required to determine this relationship. ..
  26. Agnihotri S, Gajadhar A, Ternamian C, Gorlia T, Diefes K, Mischel P, et al. Alkylpurine-DNA-N-glycosylase confers resistance to temozolomide in xenograft models of glioblastoma multiforme and is associated with poor survival in patients. J Clin Invest. 2012;122:253-66 pubmed publisher
    ..Collectively, our data demonstrate that APNG contributes to TMZ resistance in GBM and may be useful in the diagnosis and treatment of the disease. ..
  27. Brooks S, Adhikary S, Rubinson E, Eichman B. Recent advances in the structural mechanisms of DNA glycosylases. Biochim Biophys Acta. 2013;1834:247-71 pubmed publisher
    b>DNA glycosylases safeguard the genome by locating and excising a diverse array of aberrant nucleobases created from oxidation, alkylation, and deamination of DNA...
  28. Raetz A, Xie Y, Kundu S, Brinkmeyer M, Chang C, David S. Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. Carcinogenesis. 2012;33:2301-9 pubmed publisher
  29. Xue X, Yin Z, Lu Y, Zhang H, Yan Y, Zhao Y, et al. The joint effect of hOGG1, APE1, and ADPRT polymorphisms and cooking oil fumes on the risk of lung adenocarcinoma in Chinese non-smoking females. PLoS ONE. 2013;8:e71157 pubmed publisher
  30. Fantini D, Moritz E, Auvré F, Amouroux R, Campalans A, Epe B, et al. Rapid inactivation and proteasome-mediated degradation of OGG1 contribute to the synergistic effect of hyperthermia on genotoxic treatments. DNA Repair (Amst). 2013;12:227-37 pubmed publisher
    ..Taken together, our results suggest that OGG1 inhibition contributes to heat-induced chemosensitisation of cells and could lay the basis for new anticancer therapeutic protocols that include hyperthermia. ..
  31. Martínez Macías M, Córdoba Cañero D, Ariza R, Roldan Arjona T. The DNA repair protein XRCC1 functions in the plant DNA demethylation pathway by stimulating cytosine methylation (5-meC) excision, gap tailoring, and DNA ligation. J Biol Chem. 2013;288:5496-505 pubmed publisher
    ..Active DNA demethylation in plants is mediated by a family of DNA glycosylases typified by Arabidopsis ROS1 (repressor of silencing 1)...
  32. Ponferrada Marín M, Roldan Arjona T, Ariza R. Demethylation initiated by ROS1 glycosylase involves random sliding along DNA. Nucleic Acids Res. 2012;40:11554-62 pubmed publisher
    ..REPRESSOR OF SILENCING 1 (ROS1) is a prototype member of a family of plant 5-methylcytosine DNA glycosylases that initiate active DNA demethylation through a base excision repair pathway...
  33. Derevyanko A, Endutkin A, Ishchenko A, Saparbaev M, Zharkov D. Initiation of 8-oxoguanine base excision repair within trinucleotide tandem repeats. Biochemistry (Mosc). 2012;77:270-9 pubmed publisher
    ..DNA polymerase ? was able to perform a strand-displacement DNA synthesis, which may be important for CAG run expansion initiated by BER. ..
  34. Piao M, Kim K, Choi J, Choi J, Hyun J. Silver nanoparticles down-regulate Nrf2-mediated 8-oxoguanine DNA glycosylase 1 through inactivation of extracellular regulated kinase and protein kinase B in human Chang liver cells. Toxicol Lett. 2011;207:143-8 pubmed publisher
    ..These studies demonstrate that down-regulation of Nrf2-mediated OGG1 in exposure to AgNPs occurs through ERK and AKT inactivation. ..
  35. Fu D, Samson L. Direct repair of 3,N(4)-ethenocytosine by the human ALKBH2 dioxygenase is blocked by the AAG/MPG glycosylase. DNA Repair (Amst). 2012;11:46-52 pubmed publisher
    ..These results identify human ALKBH2 as a repair enzyme for mutagenic ?C lesions and highlight potential consequences for substrate-binding overlap between the base excision and direct reversal DNA repair pathways. ..
  36. Karihtala P, Kauppila S, Puistola U, Jukkola Vuorinen A. Absence of the DNA repair enzyme human 8-oxoguanine glycosylase is associated with an aggressive breast cancer phenotype. Br J Cancer. 2012;106:344-7 pubmed publisher
    ..000005). The current results imply that absence of hOGG1 expression is associated with features of aggressive breast cancer. Tumours lacking both 8-oxodG and hOGG1 seem to indicate especially poor prognosis. ..
  37. Lühnsdorf B, Kitsera N, Warken D, Lingg T, Epe B, Khobta A. Generation of reporter plasmids containing defined base modifications in the DNA strand of choice. Anal Biochem. 2012;425:47-53 pubmed publisher
  38. Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J. MUTYH hotspot mutations in unselected colonoscopy patients. Colorectal Dis. 2012;14:e238-44 pubmed publisher
    ..Q338H may be at increased risk for mild polyposis or CRC. In addition, MUTYH should be assessed as a potential susceptibility gene for the development of colitis-associated CRC in future. ..
  39. Duan W, Hua R, Yi W, Shen L, Jin Z, Zhao Y, et al. The association between OGG1 Ser326Cys polymorphism and lung cancer susceptibility: a meta-analysis of 27 studies. PLoS ONE. 2012;7:e35970 pubmed publisher
  40. Weil A, Ghosh D, Zhou Y, Seiple L, McMahon M, Spivak A, et al. Uracil DNA glycosylase initiates degradation of HIV-1 cDNA containing misincorporated dUTP and prevents viral integration. Proc Natl Acad Sci U S A. 2013;110:E448-57 pubmed publisher
    ..These findings establish the essential elements of this pathway and reconcile diverse observations in the literature. ..
  41. Doseth B, Ekre C, Slupphaug G, Krokan H, Kavli B. Strikingly different properties of uracil-DNA glycosylases UNG2 and SMUG1 may explain divergent roles in processing of genomic uracil. DNA Repair (Amst). 2012;11:587-93 pubmed publisher
    ..We suggest a model for mutagenic processing in which replication protein A (RPA) recruits UNG2 to sites of deamination and keeps DNA in a single stranded conformation, thus avoiding error-free BER of the deaminated cytosine. ..
  42. Reis A, Hermanson O. The DNA glycosylases OGG1 and NEIL3 influence differentiation potential, proliferation, and senescence-associated signs in neural stem cells. Biochem Biophys Res Commun. 2012;423:621-6 pubmed publisher
    ..When cells are challenged by oxidative stress agents the resulting DNA lesions are repaired by DNA glycosylases through the base excision repair (BER) pathway as a means to maintain the fidelity of the genome, and thus, ..
  43. Menoni H, Hoeijmakers J, Vermeulen W. Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo. J Cell Biol. 2012;199:1037-46 pubmed publisher
  44. Jarem D, Wilson N, Schermerhorn K, Delaney S. Incidence and persistence of 8-oxo-7,8-dihydroguanine within a hairpin intermediate exacerbates a toxic oxidation cycle associated with trinucleotide repeat expansion. DNA Repair (Amst). 2011;10:887-96 pubmed publisher
    ..This damage-containing hairpin can then be incorporated into duplex, resulting in an expanded TNR tract that now contains an oxidative lesion. Thus, the cycle restarts and the DNA can incrementally expand. ..
  45. Redrejo Rodríguez M, Saint Pierre C, Couve S, Mazouzi A, Ishchenko A, Gasparutto D, et al. New insights in the removal of the hydantoins, oxidation product of pyrimidines, via the base excision and nucleotide incision repair pathways. PLoS ONE. 2011;6:e21039 pubmed publisher
    ..Hydantoins are blocking lesions for DNA polymerases and excised by bacterial and yeast DNA glycosylases in the BER pathway. However little is known about repair of pyrimidine-derived hydantoins in human cells...
  46. Torrezan G, da Silva F, Krepischi A, Santos É, Ferreira F, Rossi B, et al. Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report. BMC Med Genet. 2011;12:128 pubmed publisher
    ..Large deletions are a possible mechanism for loss of function of the MUTYH gene, and investigation of such mutations may be important in identifying causative mutations in MAP patients. ..
  47. Roberts M, Shields P, Ambrosone C, Nie J, Marian C, Krishnan S, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011;32:1223-30 pubmed publisher
    ..These results indicate that some of the variants in BER and NER genes may influence risk of postmenopausal breast cancer. ..
  48. Kohno T, Kunitoh H, Mimaki S, Shiraishi K, Kuchiba A, Yamamoto S, et al. Contribution of the TP53, OGG1, CHRNA3, and HLA-DQA1 genes to the risk for lung squamous cell carcinoma. J Thorac Oncol. 2011;6:813-7 pubmed publisher
    ..This result indicates the necessity of reevaluation for the significance of functional polymorphisms in DNA repair and metabolic genes on lung cancer risk in other populations subjected to GWASs. ..
  49. Moe E, Hall D, Leiros I, Monsen V, Timmins J, McSweeney S. Structure-function studies of an unusual 3-methyladenine DNA glycosylase II (AlkA) from Deinococcus radiodurans. Acta Crystallogr D Biol Crystallogr. 2012;68:703-12 pubmed publisher
    ..The enzyme belongs to the helix-hairpin-helix (HhH) superfamily of DNA glycosylases and possesses broad substrate specificity...
  50. Liu Y, Prasad R, Beard W, Hou E, Horton J, McMurray C, et al. Coordination between polymerase beta and FEN1 can modulate CAG repeat expansion. J Biol Chem. 2009;284:28352-66 pubmed publisher
    ..This is the first report illustrating that disruption of pol beta and FEN1 coordination during long-patch BER results in CAG repeat expansion. ..
  51. Chen H, Sun C, Guo W, Meng R, Du H, Qi Q, et al. AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population. Mol Cell Endocrinol. 2011;332:301-5 pubmed publisher
    ..3 in homozygotes with the variation (P < 0.001, compared with the wild-type). Therefore, the AluYb8MUTYH polymorphism could be a novel genetic risk factor for T2DM, and accumulated 8-OHdG could contribute to this disease. ..
  52. Kundu S, Brinkmeyer M, Livingston A, David S. Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. DNA Repair (Amst). 2009;8:1400-10 pubmed publisher
    ..This suggests that the consequences of a specific amino acid variation on overall repair in a cellular context may be magnified. ..
  53. Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, et al. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet. 2009;76:242-55 pubmed publisher
    ..The phenotypes of the mutation-negative patients suggest distinct etiologies in these cases...