Biến thể trình tự đa hình Inosine Triphosphate Pyrophosphohydrolase (ITPA) ở bệnh nhân ung thư huyết khối trưởng thành và mối liên hệ có thể với các khuyết tật DNA ti thể
Tóm tắt
Từ khóa
#ITPase #mtDNA #biến thể đa hình #ung thư huyết học trưởng thành #nucleotide không điển hình.Tài liệu tham khảo
Bierau J, Lindhout M, Bakker JA: Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics. 2007, 8 (9): 1221-1228. 10.2217/14622416.8.9.1221.
Lin S, McLennan AG, Ying K, Wang Z, Gu S, Jin H, Wu C, Liu W, Yuan Y, Tang R: Cloning, expression, and characterization of a human InosineTriphosphate pyrophosphatase encoded by the ITPA gene. J Biol Chem. 2001, 276 (22): 18695-18701. 10.1074/jbc.M011084200.
Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA: Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet. 2002, 111 (4–5): 360-367.
Galperin MY, Moroz OV, Wilson KS, Murzin AG: House cleaning, a part of good housekeeping. Mol Microbiol. 2006, 59 (1): 5-19. 10.1111/j.1365-2958.2005.04950.x.
Marinaki AM, Ansari A, Duley JA, Arenas M, Sumi S, Lewis CM, Shobowale-Bakre el M, Escuredo E, Fairbanks LD, Sanderson JD: Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics. 2004, 14 (3): 181-187. 10.1097/00008571-200403000-00006.
Fellay J, Thompson AJ, Dongliang G, Gumbs CE, Urban T, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M: ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature. 2010, 464: 405-408. 10.1038/nature08825.
Behmanesh M, Sakumi K, Abolhassani N, Toyokuni S, Oka S, Ohnishi NY, Tsuchimoto D, Nakabeppu Y: ITPase-deficient mice show growth retardation and die before weaning. Cell Death Differ. 2009, 16: 1315-1322. 10.1038/cdd.2009.53.
Abolhassani N, Iyama T, Tsuchimoto D, Sakumi K, Ohno M, Behmanesh M, Nakabeppu Y: NUDT16 and ITPA play a dual protective role in maintaining chromosome stability and cell growth by eliminating dIDP/IDP and dITP/ITP from nucleotide pools in mammals. Nucleic Acids Res. 2010, 38 (9): 2891-2903. 10.1093/nar/gkp1250.
Sumi S, Ueta A, Maeda T, Ito T, Ohkubo Y, Togari H: A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. J Inherit Metab Dis. 2004, 27 (2): 277-278.
Poppe B, Vandesompele J, Schoch C, Lindvall C, Mrozek K, Bloomfield CD, Beverloo HB, Michaux L, Dastugue N, Herens C: Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004, 103 (1): 229-235. 10.1182/blood-2003-06-2163.
Menezes MR, Waisertreiger IS, Lopez-Bertoni H, Luo X, Pavlov YI: Pivotal role of inosine triphosphate pyrophosphatase in maintaining genome stability and the prevention of apoptosis in human cells. PLoS One. 2012, 7 (2): 27-
Arenas M, Duley J, Sumi S, Sanderson J, Marinaki A: The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene. Biochim Biophys Acta. 2007, 1772: 96-102. 10.1016/j.bbadis.2006.10.006.
Marsh S, King CR, Ahluwalia R, McLeod HL: Distribution of ITPA P32T alleles in multiple world populations. J Hum Genet. 2004, 49: 579-581. 10.1007/s10038-004-0183-y.
Taylor RW, Turnbull DM: Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005, 6 (5): 389-402.
Ihara H, Sawa T, Nakabeppu Y, Akaike T: Nucleotides function as endogenous chemical sensors for oxidative stress signaling. J Clin Biochem Nutr. 2011, 48 (1): 33-39.
Rai P: Oxidation in the nucleotide pool, the DNA damage response and cellular senescence: Defective bricks build a defective house. Mutat Res. 2010, 703 (1): 71-81. 10.1016/j.mrgentox.2010.07.010.
Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW: Mitochondrial DNA mutations and human disease. Biochim Biophys Acta. 2010, 1797: 113-128.
Carew JS, Huang P: Mitochondrial defects in cancer. Molecular Cancer. 2002, 1 (9): 1-12.
Thieme M, Lottaz C, Niederstätter H, Parson W, Spang R, Oefner PJ: ReseqChip: Automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly. BMC Bioinforma. 2009, 10 (440): 1-10.
Hartwell L, Hood L, Goldberg ML, Reynolds AE, Silver LM, Veres RC: Genetics: from genes to genomes. 2004, Boston: McGraw-Hill Higher Education, 2
Mileshina D, Ibrahim N, Boesch P, Lightowlers RN, Dietrich A, Weber-Lotfi F: Mitochondrial transfection for studying organellar DNA repair, genome maintenance and aging. Mech Ageing Dev. 2011, 132: 412-423. 10.1016/j.mad.2011.05.002.
Gredilla R: DNA damage and base excision repair inMitochondria and their role in aging. Journal of Aging Research. 2011, 2011: 1-9.
Rossignol R, Faustin B, Rocher C, Malgat M, Mazat JP, Letellier T: Mitochondrial threshold effects. Biochem J. 2003, 370 (Pt 3): 751-762.
Fairbanks LD, Marinaki AM, Carrey EA, Hammans SR, Duley JA: Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). J Inherit Metab Dis. 2002, 25: 603-604. 10.1023/A:1022007827133.
Marti R, Nishigaki Y, Vila MR, Hirano M: Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Clin Chem Lab Med. 2003, 41 (7): 845-851.
Costello L, Singh K: Mitochondria and cancer. Mitochondria in Hematology. Edited by: Costello L, Singh K. 2009, Springer: New York, 163-185.
Fröhling S, Döhner H: Chromosomal abnormalities in cancer. N Engl J Med. 2008, 359 (7): 722-734. 10.1056/NEJMra0803109.
Lobo I: Chromosome abnormalities and cancer cytogenetics. Nature Education. 2008, 1 (1): http://www.nature.com/scitable/topicpage/chromosome-abnormalities-and-cancer-cytogenetics-879 (accessed March 19, 2013)
Voso MT, Fabiani E, D’Alo F, Guidi F, Di Ruscio A, Sica S, Pagano L, Greco M, Hohaus S, Leone G: Increased risk of acute myeloid leukaemia due to polymorphisms in detoxification and DNA repair enzymes. Ann Oncol. 2007, 18: 1523-1528. 10.1093/annonc/mdm191.
Fabiani E, D’Alo F, Scardocci A, Greco M, Di Ruscio A, Criscuolo M, Fianchi L, Pagano L, Hohaus S, Leone G: Polymorphisms of detoxification and DNA repair enzymes in myelodyplastic syndromes. Leuk Res. 2009, 33: 1068-1071. 10.1016/j.leukres.2008.10.012.
Maitra A, Cohen Y, Gillespie SE, Mambo E, Fukushima N, Hoque MO, Shah N, Goggins M, Califano J, Sidransky D: The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res. 2004, 14 (5): 812-819. 10.1101/gr.2228504.
Zhou S, Kassauei K, Cutler DJ, Kennedy GC, Sidransky D, Maitra A, Califano J: An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn. 2006, 8 (4): 476-482. 10.2353/jmoldx.2006.060008.
Kloss-Brandstaetter A, Pacher D, Schoenherr S, Weissensteiner H, Binna R, Specht G, Kronenberg F:HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Hum Mutat. 2011, 32 (1): 25-32. 10.1002/humu.21382.
van Oven M, Kayser M: Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat. 2009, 30 (2): 386-394. 10.1002/humu.20921.
Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL: High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010, 10 (10): PMID20146813
Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH: Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency. Blood. 2001, 97 (11): 3327-3332. 10.1182/blood.V97.11.3327.
Holmes SL, Turner BM, Hirschhorn K: Human inosine triphosphatase: catalytic properties and population studies. Clin Chim Acta. 1979, 97 (2–3): 143-153.
Daehn I, Brem R, Barkauskaite E, Karran P: 6-Thioguanine damages mitochondrial DNA and causes mitochondrial dysfunction in human cells. FEBS Lett. 2011, 585 (24): 3941-3946. 10.1016/j.febslet.2011.10.040.
Penta JS, Johnson FM, Wachsman JT, Copeland WC: Mitochondrial DNA in human malignancy. Mutat Res. 2001, 488: 119-133. 10.1016/S1383-5742(01)00053-9.
Wulferta M, Kuppera AC, Tappricha C, Bottomley SS, Bowenc D, Germinga U, Haasa R, Gattermanna N: Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. Exp Hematol. 2008, 36: 577-586. 10.1016/j.exphem.2008.01.004.
Carew JS, Zhou Y, Albitar M, Carew JD, Keating MJ, Huang P: Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications. Leukemia. 2003, 17: 1437-1447. 10.1038/sj.leu.2403043.
He L, Luo L, Proctor SJ, Middleton PG, Blakely EL, Taylor RW, Turnbull DM: Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia. 2003, 17: 2487-2491. 10.1038/sj.leu.2403146.
Spee JH, Vos WM, Kuipers OP: Efficient random mutagenesis method with adjustable mutation frequency by use of PCR and dITP. Nucleic Acids Res. 1993, 21 (3): 777-778. 10.1093/nar/21.3.777.
Kamiya H, Shimizu M, Suzuki M, Inoue H, Ohtsuka E: Mutation induced by deoxyxanthosine in codon 12 of a synthetic c-haras gene. Nucleos Nucleot Nucleic Acids. 1992, 11 (2–4): 247-260.
Kamiya H: Mutagenic potentials of damaged nucleic acids produced by reactive oxygen/nitrogen species: approaches using synthetic oligonucleotides and nucleotides: survey and summary. Nucleic Acids Res. 2003, 31 (2): 517-531. 10.1093/nar/gkg137.
Kulikowska E, Kierdaszuk B, Shugar D: Xanthine, xanthosine and its nucleotides: solution structures of neutral and ionic forms, and relevance to substrate properties in various enzyme systems and metabolic pathways. Acta Biochimica Polonica. 2004, 51 (2): 493-531.
Rötig A, Poulton J: Genetic causes of mitochondrial DNA depletion in humans. Biochim Biophys Acta. 2009, 1792: 1103-1108. 10.1016/j.bbadis.2009.06.009.
Zamzami MA, Price GR, Taylor RW, Blakely EL, Oancea I, Bowling F, Duley JA: Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0. BMC Res Notes. 2011, 4 (1): 426-10.1186/1756-0500-4-426.