A Germline Polymorphism of Thymine DNA Glycosylase Induces Genomic Instability and Cellular Transformation

PLoS Genetics

Volumn 10, Issue 11, 2014, Pages

  Sjolund, Ashley ^a   Nemec, Antonia A ^a   Paquet, Nicolas ^a   Prakash, Aishwarya ^b   Sung, Patrick ^a   Doublié, Sylvie ^b   Sweasy, Joann B ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLUOROURACIL; GLYCINE; GUANINE; SERINE; THYMINE; THYMINE DNA GLYCOSYLASE; URACIL;

ARTICLE; BASE PAIRING; BINDING AFFINITY; CANCER SUSCEPTIBILITY; CELL TRANSFORMATION; CONCENTRATION RESPONSE; CONTROLLED STUDY; DOUBLE STRANDED DNA BREAK; DRUG SENSITIVITY; ENZYME ACTIVE SITE; ENZYME SUBSTRATE COMPLEX; EXCISION REPAIR; GENETIC VARIABILITY; GENOMIC INSTABILITY; GERMLINE MUTATION; HUMAN; HUMAN CELL; NONHUMAN; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; CHEMISTRY; DNA REPAIR; ENZYME SPECIFICITY; GENETICS; GERM CELL; METABOLISM; STRUCTURE ACTIVITY RELATION;

CATALYTIC DOMAIN; CELL TRANSFORMATION, NEOPLASTIC; DNA REPAIR; GENOMIC INSTABILITY; GERM CELLS; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY; THYMINE DNA GLYCOSYLASE;

EID: 84912141657     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004753     Document Type: Article

References (33)

1. Barnes DE, Lindahl T, (2004) Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu Rev Genet 38: 445–476.
2. Neddermann P, Jiricny J, (1993) The purification of a mismatch-specific thymine-DNA glycosylase from HeLa cells. J Biol Chem 268: 21218–21224.
3. Hardeland U, Bentele M, Jiricny J, Schar P, (2003) The versatile thymine DNA-glycosylase: a comparative characterization of the human, Drosophila and fission yeast orthologs. Nucleic Acids Res 31: 2261–2271.
4. Morgan MT, Bennett MT, Drohat AC, (2007) Excision of 5-halogenated uracils by human thymine DNA glycosylase. Robust activity for DNA contexts other than CpG. J Biol Chem 282: 27578–27586.
5. Cortazar D, Kunz C, Saito Y, Steinacher R, Schar P, (2007) The enigmatic thymine DNA glycosylase. DNA Repair (Amst) 6: 489–504.
6. He YF, Li BZ, Li Z, Liu P, Wang Y, et al. (2011) Tet-mediated formation of 5-carboxylcytosine and its excision by TDG in mammalian DNA. Science 333: 1303–1307.
7. Maiti A, Drohat AC, (2011) Thymine DNA glycosylase can rapidly excise 5-formylcytosine and 5-carboxylcytosine: potential implications for active demethylation of CpG sites. J Biol Chem 286: 35334–35338.
8. Nabel CS, Jia H, Ye Y, Shen L, Goldschmidt HL, et al. (2012) AID/APOBEC deaminases disfavor modified cytosines implicated in DNA demethylation. Nat Chem Biol 8: 751–758.
9. Hashimoto H, Hong S, Bhagwat AS, Zhang X, Cheng X, (2012) Excision of 5-hydroxymethyluracil and 5-carboxylcytosine by the thymine DNA glycosylase domain: its structural basis and implications for active DNA demethylation. Nucleic Acids Res 40: 10203–10214.
10. Maiti A, Morgan MT, Pozharski E, Drohat AC, (2008) Crystal structure of human thymine DNA glycosylase bound to DNA elucidates sequence-specific mismatch recognition. Proceedings of the National Academy of Sciences of the United States of America 105: 8890–8895.
11. Wen-Bin M, Wei W, Yu-Lan Q, Fang J, Zhao-Lin X, (2009) Micronucleus occurrence related to base excision repair gene polymorphisms in Chinese workers occupationally exposed to vinyl chloride monomer. J Occup Environ Med 51: 578–585.
12. Li W-Q, Hu N, Hyland PL, Gao Y, Wang Z-M, et al. (2013) Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population. Carcinogenesis 34: 1536–1542.
13. Krzesniak M, Butkiewicz D, Samojedny A, Chorazy M, Rusin M, (2004) Polymorphisms in TDG and MGMT genes - epidemiological and functional study in lung cancer patients from Poland. Ann Hum Genet 68: 300–312.
14. Curtin K, Ulrich CM, Samowitz WS, Wolff RK, Duggan DJ, et al. (2011) Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations. Int J Mol Epidemiol Genet 2: 1–8.
15. Xu X, Yu T, Shi J, Chen X, Zhang W, et al. (2014) Thymine DNA Glycosylase is a Positive Regulator of Wnt Signaling in Colorectal Cancer. J Biol Chem 289: 8881–90.
16. Maiti A, Morgan MT, Pozharski E, Drohat AC, (2008) Crystal structure of human thymine DNA glycosylase bound to DNA elucidates sequence-specific mismatch recognition. Proc Natl Acad Sci U S A 105: 8890–8895.
17. Kunz C, Focke F, Saito Y, Schuermann D, Lettieri T, et al. (2009) Base excision by thymine DNA glycosylase mediates DNA-directed cytotoxicity of 5-fluorouracil. PLoS Biol 7: e91.
18. Robinson HMR, Jones R, Walker M, Zachos G, Brown R, et al. (2006) Chk1-dependent slowing of S-phase progression protects DT40 B-lymphoma cells against killing by the nucleoside analogue 5-fluorouracil. Oncogene 25: 5359–5369.
19. Xiao Z, Xue J, Sowin TJ, Rosenberg SH, Zhang H, (2004) A novel mechanism of checkpoint abrogation conferred by Chk1 downregulation. Oncogene 24: 1403–1411.
20. Liu Q, Guntuku S, Cui XS, Matsuoka S, Cortez D, et al. (2000) Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint. Genes Dev 14: 1448–1459.
21. Galick HA, Kathe S, Liu M, Robey-Bond S, Kidane D, et al. (2013) Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation. Proc Natl Acad Sci U S A 110: 14314–14319.
22. Yamtich J, Nemec AA, Keh A, Sweasy JB, (2012) A germline polymorphism of DNA polymerase beta induces genomic instability and cellular transformation. PLoS Genet 8: e1003052.
23. Nemec AA, Donigan KA, Murphy DL, Jaeger J, Sweasy JB, (2012) Colon cancer-associated DNA polymerase beta variant induces genomic instability and cellular transformation. J Biol Chem 287: 23840–23849.
24. Nemec AA, Murphy DL, Donigan KA, Sweasy JB, (2014) The S229L Colon Tumor-Associated Variant of DNA Polymerase Beta Induces Cellular Transformation As A Result Of Decreased Polymerization Efficiency. J Biol Chem 289: 13708–16.
25. Ho DH, Pazdur R, Covington W, Brown N, Huo YY, et al. (1998) Comparison of 5-fluorouracil pharmacokinetics in patients receiving continuous 5-fluorouracil infusion and oral uracil plus N1-(2′-tetrahydrofuryl)-5-fluorouracil. Clin Cancer Res 4: 2085–2088.
26. Joulia JM, Pinguet F, Ychou M, Duffour J, Astre C, et al. (1999) Plasma and salivary pharmacokinetics of 5-fluorouracil (5-FU) in patients with metastatic colorectal cancer receiving 5-FU bolus plus continuous infusion with high-dose folinic acid. Eur J Cancer 35: 296–301.
27. Joulia JM, Pinguet F, Ychou M, Duffour J, Topart D, et al. (1997) Pharmacokinetics of 5-fluorouracil (5-FUra) in patients with metastatic colorectal cancer receiving 5-FUra bolus plus continuous infusion with high dose folinic acid (LV5FU2). Anticancer Res 17: 2727–2730.
28. Konings IR, Sleijfer S, Mathijssen RH, de Bruijn P, Ghobadi Moghaddam-Helmantel IM, et al. (2011) Increasing tumoral 5-fluorouracil concentrations during a 5-day continuous infusion: a microdialysis study. Cancer Chemother Pharmacol 67: 1055–1062.
29. Adjei AA, Reid JM, Diasio RB, Sloan JA, Smith DA, et al. (2002) Comparative pharmacokinetic study of continuous venous infusion fluorouracil and oral fluorouracil with eniluracil in patients with advanced solid tumors. J Clin Oncol 20: 1683–1691.
30. Smet-Nocca C, Wieruszeski JM, Leger H, Eilebrecht S, Benecke A, (2011) SUMO-1 regulates the conformational dynamics of thymine-DNA Glycosylase regulatory domain and competes with its DNA binding activity. BMC Biochem 12: 4.
31. Hardeland U, Steinacher R, Jiricny J, Schar P, (2002) Modification of the human thymine-DNA glycosylase by ubiquitin-like proteins facilitates enzymatic turnover. Embo J 21: 1456–1464.
32. Barrett TE, Scharer OD, Savva R, Brown T, Jiricny J, et al. (1999) Crystal structure of a thwarted mismatch glycosylase DNA repair complex. Embo J 18: 6599–6609.
33. Morgan MT, Maiti A, Fitzgerald ME, Drohat AC, (2011) Stoichiometry and affinity for thymine DNA glycosylase binding to specific and nonspecific DNA. Nucleic Acids Res 39: 2319–2329.