Defective Base Excision Repair Associated with NEIL1

Galick HA, Marsden CG, Kathe S, Dragon JA, Volk L, Nemec AA, Wallace SS, Prakash A, Doublié S, Sweasy JB. The NEIL1 G83D germline DNA glycosylase variant induces genomic instability and cellular transformation. Oncotarget. 2017 Oct 17;8(49):85883–95. PMID: 29156764; PMCID: PMC5689654.; Rolseth V, Luna L, Olsen AK, Suganthan R, Scheffler K, Neurauter CG, Esbensen Y, Kusnierczyk A, Hildrestrand GA, Graupner A, Andersen JM, Slupphaug G, Klungland A, Nilsen H, Bjørås M. No cancer predisposition or increased spontaneous mutation frequencies in NEIL DNA glycosylases-deficient mice. Scientific Reports. 2017 Jun 29;7(1):4384. doi: 10.1038/s41598-017-04472-4.; Shinmura K, Kato H, Kawanishi Y, Igarashi H, Goto M, Tao H, Inoue Y, Nakamura S, Misawa K, Mineta H, Sugimura H. Abnormal Expressions of DNA Glycosylase Genes NEIL1, NEIL2, and NEIL3 Are Associated with Somatic Mutation Loads in Human Cancer. Oxidative Medicine and Cellular Longevity. 2016 Jan;2016(1). doi: 10.1155/2016/1546392.; Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Inoue Y, Nakamura S, Sugimura H. NEIL1 p.Gln282Stop variant is predominantly localized in the cytoplasm and exhibits reduced activity in suppressing mutations. Gene. 2015 Oct 15;571(1):33–42. doi: 10.1016/j.gene.2015.06.043. PMID: 26095805.; Prakash A, Carroll BL, Sweasy JB, Wallace SS, Doublié S. Genome and cancer single nucleotide polymorphisms of the human NEIL1 DNA glycosylase: activity, structure, and the effect of editing. DNA Repair (Amst). 2014 Feb;14():17–26. PMID: 24382305; PMCID: PMC3926126.; Sampath H, Batra AK, Vartanian V, Carmical JR, Prusak D, King IB, Lowell B, Earley LF, Wood TG, Marks DL, McCullough AK, R. Stephen L. Variable penetrance of metabolic phenotypes and development of high-fat diet-induced adiposity in NEIL1-deficient mice. American Journal of Physiology-Endocrinology and Metabolism. 2011 Apr;300(4):E724–34. doi: 10.1152/ajpendo.00387.2010.; Pal S, Polyak SJ, Bano N, Qiu WC, Carithers RL, Shuhart M, Gretch DR, Das A. Hepatitis C virus induces oxidative stress, DNA damage and modulates the DNA repair enzyme NEIL1. J of Gastro and Hepatol. 2010 Feb 25;25(3):627–34. doi: 10.1111/j.1440-1746.2009.06128.x.; Chan MK, Ocampo-Hafalla MT, Vartanian V, Jaruga P, Kirkali G, Koenig KL, Brown S, Lloyd RS, Dizdaroglu M, Teebor GW. Targeted deletion of the genes encoding NTH1 and NEIL1 DNA N-glycosylases reveals the existence of novel carcinogenic oxidative damage to DNA. DNA Repair (Amst). 2009 Jul 04;8(7):786–94. PMID: 19346169; PMCID: PMC4894318.; Forsbring M, Vik ES, Dalhus B, Karlsen TH, Bergquist A, Schrumpf E, Bjørås M, Boberg KM, Alseth I. Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma. Carcinogenesis. 2009 Jul;30(7):1147–54. PMID: 19443904; PMCID: PMC2704287.; Roy LM, Jaruga P, Wood TG, McCullough AK, Dizdaroglu M, Lloyd RS. Human Polymorphic Variants of the NEIL1 DNA Glycosylase. Journal of Biological Chemistry. 2007 May;282(21):15790–8. doi: 10.1074/jbc.m610626200.; Vartanian V, Lowell B, Minko IG, Wood TG, Ceci JD, George S, Ballinger SW, Corless CL, McCullough AK, Lloyd RS. The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase. Proc Natl Acad Sci U S A. 2006 Feb 07;103(6):1864–9. PMID: 16446448; PMCID: PMC1413631.; Shinmura K, Tao H, Goto M, Igarashi H, Taniguchi T, Maekawa M, Takezaki T, Sugimura H. Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer. Carcinogenesis. 2004 Dec;25(12):2311–7. doi: 10.1093/carcin/bgh267. PMID: 15319300.

Metabolites



Enzyme

EC Number name full name note
3.2.2.-
4.2.99.18 DNA-(apurinic or apyrimidinic site) lyase DNA-(apurinic or apyrimidinic site) 5'-phosphomonoester-lyase


Proteins

Protein ID name full name