端粒長度調節酶1在腦膠質瘤中的研究進展_West China Medical Journal

Authors：

 羅杰文 ,  毛慶

四川大學華西醫院神經外科（成都 610041）;

Corresponding?author：

Keywords：

端粒長度調節酶1; 膠質瘤; DNA; 端粒

DOI：

10.7507/1002-0179.201600532

Video：

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Abstract Full text Figures/Tables Video References Cited by

腦膠質瘤是顱內最常見且最難治愈的腫瘤之一，目前尚缺乏特異性的診斷和預后生物學標志，因此，膠質瘤的診斷與治療一直都是神經腫瘤領域的研究難點。端粒酶歷來與腫瘤的研究密切相關，近幾年研究發現端粒長度調節酶1（RTEL1）的基因突變，使其在腦膠質瘤中表達明顯減少，可能與腦膠質瘤發生、發展以及預后密切相關，而在部分非顱腦腫瘤的研究中卻發現RTEL1的表達結果與膠質瘤截然相反。現結合相關文獻，就RTEL1的結構特性及在腦膠質瘤中的研究進展進行綜述，希望對其在顱內腫瘤的診斷、鑒別診斷及預后中等提供一定的參考意義。

Citation： 羅杰文, 毛慶. 端粒長度調節酶1在腦膠質瘤中的研究進展. West China Medical Journal, 2016, 31(11): 1937-1939. doi: 10.7507/1002-0179.201600532 Copy

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12.	Vannier JB, Sandhu S, Petalcorin MI, et al. RTEL1 is a replisome-associated helicasethat promotes telomere and genome-wide replication[J].Science, 2013, 342(6155):239-242.
13.	Du SL, Geng TT, Feng T, et al. The RTEL1 rs6010620 polymorphism and glioma risk:a meta-analysis based on 12 case-control studies[J].Asian Pac J Cancer Prev, 2014, 15(23):10175-10179.
14.	Rosenfeld MR, Pruitt AA. Management of malignant gliomas and primary CNS lymphoma:standard of care andfuture directions[J].Continuum (Minneap Minn), 2012, 18(2):406-415.
15.	Liu Y, Shete S, Etzel CJ, et al. Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival[J].Science, 2013, 342(6155):239-242.
16.	López-Otín C, Blasco M, Partridge L, et al. The hallmarks of aging[J].Cell, 2013, 153(6):1194-1217.
17.	Deng Z, Glousker G, Molczan A, et al. Inherited mutations in the helicase RTEL1 causetelomere dysfunction and Hoyeraal-Hreidarssonsyndrome[J].Proc Natl Acad Sci USA, 2013, 110(36):E3408-E3416.
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1. Vannier JB, Sarek G, Boulton SJ. RTEL1:functions of adisease-associated helicase[J].Trends Cell Biol, 2014, 24(7):416-425.
2. Zhu L, Hathcock KS, Hande P, et al. Telomere length regulation in mice is linked to a novelchromosome locus[J].Proc Natl Acad Sci USA, 1998, 95(15):8648-8653.
3. Bochman ML, Paeschke K, Zakian VA, et al. DNA secondary structures:stability andfunction of G-quadruplex structures[J].Nat Rev Genet, 2012, 13(11):770-780.
4. Vannier JB, Pavicic-Kaltenbrunner V, Petalcorin MI, et al. RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity[J].Cell, 2012, 149(4):795-806.
5. Griffith JD, Comeau L, Rosenfield S, et al. Mammalian telomeres end in a large duplexloop[J].Cell, 1999, 97(4):503-514.
6. Wang RC, Smogorzewska A, De Lange T. Homologous recombination generates T-loop-sized deletions at human telomeres[J].Cell, 2004, 119(3):355-368.
7. Ogawa T, Yu X, Shinohara A, et al. Similarity of the yeast rad51 filament to the bacterial reca filament[J].Science, 1993, 259(513):1896-1899.
8. Shete S, Hosking FJ, Robertson LB, et al. Genome-wide association study identifies fivesusceptibility loci for glioma[J].Nat Genet, 2009, 41(8):899-904.
9. Wrensch M, Jenkins RB, Chang JS, et al. Variants in the CDKN2B and RTEL1 regionsare associated with high-grade glioma susceptibility[J].Nat Genet, 2009, 41(8):905-908.
10. Dehainault C, Michaux D, Pages-Berhouet S, et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation[J].Er J Hum Genet, 2007, 15(4):473-477.
11. Gallus GN, Cardaioli E, Rufa A, et al. Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy[J].Mol Vis, 2010, 16(22-26):178-183.
12. Vannier JB, Sandhu S, Petalcorin MI, et al. RTEL1 is a replisome-associated helicasethat promotes telomere and genome-wide replication[J].Science, 2013, 342(6155):239-242.
13. Du SL, Geng TT, Feng T, et al. The RTEL1 rs6010620 polymorphism and glioma risk:a meta-analysis based on 12 case-control studies[J].Asian Pac J Cancer Prev, 2014, 15(23):10175-10179.
14. Rosenfeld MR, Pruitt AA. Management of malignant gliomas and primary CNS lymphoma:standard of care andfuture directions[J].Continuum (Minneap Minn), 2012, 18(2):406-415.
15. Liu Y, Shete S, Etzel CJ, et al. Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival[J].Science, 2013, 342(6155):239-242.
16. López-Otín C, Blasco M, Partridge L, et al. The hallmarks of aging[J].Cell, 2013, 153(6):1194-1217.
17. Deng Z, Glousker G, Molczan A, et al. Inherited mutations in the helicase RTEL1 causetelomere dysfunction and Hoyeraal-Hreidarssonsyndrome[J].Proc Natl Acad Sci USA, 2013, 110(36):E3408-E3416.
18. Bai C, Connolly B, Metzker ML. Overexpression of M68yDcR3 in human gastrointestinal tract tumors Independent of gene amplification and its location in a four-gene cluster[J].Proc Natl Acad Sci USA, 2000, 97(3):1230-1235.

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端粒長度調節酶1在腦膠質瘤中的研究進展

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