Septin9基因与结直肠癌相关性研究进展
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摘要
Septin9是一类具有三磷酸鸟苷酶活性的保守基因家族成员之一,与染色体分离、DNA修复、迁移和凋亡等许多细胞功能有关。Septin9与诸如恶性肿瘤等人类疾病发生密切相关,且Septin9已成为现阶段肿瘤相关研究的新热点。Septin9基因在结直肠肿瘤组织中高度甲基化,其甲基化异常是结直肠癌的重要分子特征,而其在外周血和粪便中的改变可用于结直肠癌的早期诊断。
Septin9 is a member of the gene family of conserved cytoskeletal GTPase,and it has multiple functions such as chromosome segregation,DNA repair,migration and apoptosis.More and more studies have confirmed that Septin9 has close relationship with human diseases including malignant tumors.Septin9 has become a new hot spot in tumor related research.Septin9 gene is highly methylated in the colorectal tumor tissues,which is an important molecular characteristic of colorectal cancer.Its change in the peripheral blood and feces can be used for the early diagnosis of colorectal cancer.
Septin9 is a member of the gene family of conserved cytoskeletal GTPase,and it has multiple functions such as chromosome segregation,DNA repair,migration and apoptosis.More and more studies have confirmed that Septin9 has close relationship with human diseases including malignant tumors.Septin9 has become a new hot spot in tumor related research.Septin9 gene is highly methylated in the colorectal tumor tissues,which is an important molecular characteristic of colorectal cancer.Its change in the peripheral blood and feces can be used for the early diagnosis of colorectal cancer.
引文
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[2]上海市卫生局.上海:结直肠癌发病率年均增速超4%[N].健康报,2012-04-13.
[3]Taber JM,Aspinwall LG,Heichman KA,et al.Preferences for blood-based colon cancer screening differ by race/ethnicity[J].Am J Health Behav,2014,38(3):351-361.
[4]Hartwell LH.Genetic control of the cell division cycle in yeast.Ⅳ.Genes controlling bud emergence and cytokinesis[J].Exp Cell Res,1971,69(2):265-276.
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[6]Spiliotis ET,Kinoshita M,Nelson WJ.A mitotic septin scaffold required for Mammalian chromosome congression and segregation[J].Science,2005,307(5716):1781-1785.
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[9]Chacko AD,Hyland PL,Mcdade SS,et al.SEPT9-v4 expression induces morphological change,increased motility and disturbed polarity[J].J Pathol,2005,206(4):458-465.
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[14]刘文,狄建忠,邹扬,等.SEPT9基因与恶性肿瘤关系的研究进展[J].肿瘤,2010,30(9):798-801.
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[16]Amir S,Golan M,Mabjeesh NJ.Targeted knockdown of SEPT9-v1inhibits tumor growth and angiogenesis of human prostate cancer cells concomitant with disruption of hypoxia-inducible factor-1pathway[J].Mol Cancer Res,2010,8(5):643-652.
[17]Peterson EA,Stanbery L,Li C,et al.SEPT9 i1 and genomic instability:mechanistic insights and relevance to tumorigenesis[J].Genes Chromosomes Cancer,2011,50(11):940-949.
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[20]Coppede F.Epigenetic biomarker of colorectal cancer:Focus on DNA methylation[J].Cancer Lett,2014,342(2):238-247.
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[23]Potter NT,Hurban P,White MN,et al.Validation of a real-time PCR-based qualitative assay for the detection of methylated SEPT9DNA in human plasma[J].Clin Chem,2014,60(9):1183-1191.
[24]Jin P,Kang Q,Wang X,et al.Performance of a second-generation methylated SEPT9 test in detecting colorectal neoplasm[J].J Gastroenterol Hepatol,2015,30(5):830-833.
[25]李楠,王贺玲,梁晓平,等.Septin9在胃癌组织中的表达及临床意义[J].中国微创外科杂志,2014,14(12):1125-1127.
[26]张意琴,胡笑蓉,毛雄英,等.胃癌组织Septin9基因甲基化及其临床意义研究[J].中国卫生检验杂志,2014,24(14):1987-1990.
[27]Ahmed D,Danielsen SA,Aagesen TH,et al.A tissue-based comparative effectiveness analysis of biomarkers for early detection of colorectal tumors[J].Clin Transl Gastroenterol,2012,3:e27.
[28]Toth K,Galamb O,Spisak S,et al.The influence of methylated Septin 9 gene on RNA and protein level in colorectal cancer[J].Pathol Oncol Res,2011,17(3):503-509.
[29]Tóth K,Sipos F,Kalmár A,et al.Detection of methylated SEPT9in plasma is a reliable screening method for both left-and rightsided colon cancers[J].PLo S One,2012,7(9):e46000.
[30]贺娜,褚文慧,李永奇,等.血浆甲基化Sept9基因检测在结直肠癌诊断中的临床意义[J].中华消化杂志,2014,34(11):726-731.
[31]康倩,金鹏,杨浪,等.外周血游离DNA中Septin9基因甲基化在结直肠癌筛查中的意义[J].中华医学杂志,2014,94(48):3839-3841.
[32]Su XL,Wang YF,Li SJ,et al.High methylation of the SEPT9 gene in Chinese colorectal cancer patients[J].Genet Mol Res,2014,13(2):2513-2520.
[33]Church TR,Wandell M,Lofton-Day C,et al.Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J].Gut,2014,63(2):317-325.
[34]Nieminen TT,Shoman S,Eissa S,et al.Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin[J].Cancer Epidemiol Biomarkers Prev,2012,21(1):202-211.
[35]Lee HS,Hwang SM,Kim TS,et al.Circulating methylated septin 9nucleic acid in the plasma of patients with gastrointestinal cancer in the stomach and colon[J].Transl Oncol,2013,6(3):290-296.
[36]Tham C,Chew M,Soong R,et al.Postoperative serum methylation levels of TAC1 and SEPT9 are independent predictors of recurrence and survival of patients with colorectal cancer[J].Cancer,2014,120(20):3131-3141.
[37]Ahlquist DA,Taylor WR,Mahoney DW,et al.The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia[J].Clin Gastroenterol Hepatol,2012,10(3):272-277.
[38]Gyparaki MT,Basdra EK,Papavassiliou AG.DNA methylation biomarkers as diagnostic and prognostic tools in colorectal cancer[J].J Mol Med(Berl),2013,91(11):1249-1256.
[39]Roperch JP,Incitti R,Forbin S,et al.Aberrant methylation of NPY,PENK,and WIF1 as a promising marker for blood-based diagnosis of colorectal cancer[J].BMC Cancer,2013,13:566.
[2]上海市卫生局.上海:结直肠癌发病率年均增速超4%[N].健康报,2012-04-13.
[3]Taber JM,Aspinwall LG,Heichman KA,et al.Preferences for blood-based colon cancer screening differ by race/ethnicity[J].Am J Health Behav,2014,38(3):351-361.
[4]Hartwell LH.Genetic control of the cell division cycle in yeast.Ⅳ.Genes controlling bud emergence and cytokinesis[J].Exp Cell Res,1971,69(2):265-276.
[5]吕炳德,来茂德.Septin基因家族与人类疾病[J].国际遗传学杂志,2006,29(6):441-445.
[6]Spiliotis ET,Kinoshita M,Nelson WJ.A mitotic septin scaffold required for Mammalian chromosome congression and segregation[J].Science,2005,307(5716):1781-1785.
[7]Hall PA,Russell SE.The pathobiology of the septin gene family[J].J Pathol,2004,204(4):489-505.
[8]Sellin ME,Stenmark S,Gullberg M.Mammalian SEPT9 isoforms direct microtubule-dependent arrangements of septin core heteromers[J].Mol Biol Cell,2012,23(21):4242-4255.
[9]Chacko AD,Hyland PL,Mcdade SS,et al.SEPT9-v4 expression induces morphological change,increased motility and disturbed polarity[J].J Pathol,2005,206(4):458-465.
[10]Rath N,Olson MF.Rho-associated kinases in tumorigenesis:re-considering ROCK inhibition for cancer therapy[J].EMBO Rep,2012,13(10):900-908.
[11]Ito H,Iwamoto I,Morishita R,et al.Possible role of Rho/Rhotekin signaling in mammalian septin organization[J].Oncogene,2005,24(47):7064-7072.
[12]Mingo-Sion AM,Marietta PM,Koller E,et al.Inhibition of JNK reduce G2/M transit independent of p53,leading to endoreduplication,decreased proliferation,and apoptosis in breast cancer cells[J].Oncogene,2004,23(2):596-604.
[13]Gonzalez ME,Makarova O,Peterson EA,et al.Up-regulation of SEPT9-v1 stabilizes c-Jun-N-terminal kinase and contributes to its pro-proliferative activity in mammary epithelial cells[J].Cell Signal,2009,21(4):477-487.
[14]刘文,狄建忠,邹扬,等.SEPT9基因与恶性肿瘤关系的研究进展[J].肿瘤,2010,30(9):798-801.
[15]林春燕,税青林.SEPT9与恶性肿瘤的研究进展[J].泸州医学院学报,2013,36(2):186-188.
[16]Amir S,Golan M,Mabjeesh NJ.Targeted knockdown of SEPT9-v1inhibits tumor growth and angiogenesis of human prostate cancer cells concomitant with disruption of hypoxia-inducible factor-1pathway[J].Mol Cancer Res,2010,8(5):643-652.
[17]Peterson EA,Stanbery L,Li C,et al.SEPT9 i1 and genomic instability:mechanistic insights and relevance to tumorigenesis[J].Genes Chromosomes Cancer,2011,50(11):940-949.
[18]Siegel R,Desantis C,Jemal A.Colorectal cancer statistics,2014[J].CA Cancer J Clin,2014,64(2):104-117.
[19]陈晨,房静远.饮食因素影响结直肠癌发生的研究进展[J].中华医学杂志,2014,94(26):2069-2072.
[20]Coppede F.Epigenetic biomarker of colorectal cancer:Focus on DNA methylation[J].Cancer Lett,2014,342(2):238-247.
[21]Lofton-Day C,Model F,Devos T,et al.DNA methylation biomarnkers for blood-based colorectal cancer screening[J].Clin Chem,2008.54(2):414-423.
[22]Warren JD,Xiong W,Bunker AM,et al.Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer[J].BMC Med,2011,133(9):1741-1750.
[23]Potter NT,Hurban P,White MN,et al.Validation of a real-time PCR-based qualitative assay for the detection of methylated SEPT9DNA in human plasma[J].Clin Chem,2014,60(9):1183-1191.
[24]Jin P,Kang Q,Wang X,et al.Performance of a second-generation methylated SEPT9 test in detecting colorectal neoplasm[J].J Gastroenterol Hepatol,2015,30(5):830-833.
[25]李楠,王贺玲,梁晓平,等.Septin9在胃癌组织中的表达及临床意义[J].中国微创外科杂志,2014,14(12):1125-1127.
[26]张意琴,胡笑蓉,毛雄英,等.胃癌组织Septin9基因甲基化及其临床意义研究[J].中国卫生检验杂志,2014,24(14):1987-1990.
[27]Ahmed D,Danielsen SA,Aagesen TH,et al.A tissue-based comparative effectiveness analysis of biomarkers for early detection of colorectal tumors[J].Clin Transl Gastroenterol,2012,3:e27.
[28]Toth K,Galamb O,Spisak S,et al.The influence of methylated Septin 9 gene on RNA and protein level in colorectal cancer[J].Pathol Oncol Res,2011,17(3):503-509.
[29]Tóth K,Sipos F,Kalmár A,et al.Detection of methylated SEPT9in plasma is a reliable screening method for both left-and rightsided colon cancers[J].PLo S One,2012,7(9):e46000.
[30]贺娜,褚文慧,李永奇,等.血浆甲基化Sept9基因检测在结直肠癌诊断中的临床意义[J].中华消化杂志,2014,34(11):726-731.
[31]康倩,金鹏,杨浪,等.外周血游离DNA中Septin9基因甲基化在结直肠癌筛查中的意义[J].中华医学杂志,2014,94(48):3839-3841.
[32]Su XL,Wang YF,Li SJ,et al.High methylation of the SEPT9 gene in Chinese colorectal cancer patients[J].Genet Mol Res,2014,13(2):2513-2520.
[33]Church TR,Wandell M,Lofton-Day C,et al.Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J].Gut,2014,63(2):317-325.
[34]Nieminen TT,Shoman S,Eissa S,et al.Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin[J].Cancer Epidemiol Biomarkers Prev,2012,21(1):202-211.
[35]Lee HS,Hwang SM,Kim TS,et al.Circulating methylated septin 9nucleic acid in the plasma of patients with gastrointestinal cancer in the stomach and colon[J].Transl Oncol,2013,6(3):290-296.
[36]Tham C,Chew M,Soong R,et al.Postoperative serum methylation levels of TAC1 and SEPT9 are independent predictors of recurrence and survival of patients with colorectal cancer[J].Cancer,2014,120(20):3131-3141.
[37]Ahlquist DA,Taylor WR,Mahoney DW,et al.The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia[J].Clin Gastroenterol Hepatol,2012,10(3):272-277.
[38]Gyparaki MT,Basdra EK,Papavassiliou AG.DNA methylation biomarkers as diagnostic and prognostic tools in colorectal cancer[J].J Mol Med(Berl),2013,91(11):1249-1256.
[39]Roperch JP,Incitti R,Forbin S,et al.Aberrant methylation of NPY,PENK,and WIF1 as a promising marker for blood-based diagnosis of colorectal cancer[J].BMC Cancer,2013,13:566.