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拷贝数变异:基因组多样性的新形式 被引量：18

Copy-number variation:a new pattern of structural diversity in genome
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摘要 基因拷贝数变异是指DNA片段大小范围从kb到Mb的亚微观突变,是一可能具有致病性、良性或未知临床意义的基因组改变。Fosmid末端配对序列比较策略、比较基因组杂交芯片是当前较多使用的检测手段。染色体非等位的同源重排、非同源突变和非βDNA结构是造成基因组拷贝数变异的重要原因。拷贝数变异可导致不同程度的基因表达差异,对正常表型的构成及疾病的发生发展具有一定作用。文章在总结基因拷贝数变异的认识过程和研究策略的基础上,分析了拷贝数变异的形成和作用机制,介绍了第一代人类基因组拷贝数变异图谱,阐述了拷贝数变异研究的临床意义,提示在探索疾病相关的遗传变异时不能错失拷贝数变异这一基因组多样性的新形式。 Copy number variation （CNV） is increasingly recognized as a source of inter-individual differences in genome sequence and has been proposed as a driving force for genome evolution and phenotypic variation. Many CNVs resulted in different levels of gene expression, which may account for a significant proportion of normal phenotypic variation and human diseases. This review unveiled the research process and study strategy of CNVs. Subsequently, the potential mechanisms of CNV formation and its clinical implications were discussed. In addition, the first-generation copy number variation map of the human genome was introduced, which demonstrated that DNA copy number variation was associated with specific chromosomal rearrangements and genomic disorders.
作者 吴志俊 金玮
机构地区 上海交通大学医学院附属瑞金医院心内科
出处 《遗传》 CAS CSCD 北大核心 2009年第4期339-347,共9页 Hereditas（Beijing)
基金 国家自然科学基金项目(编号:30500576) 上海市科委"上海青年科技启明星计划"项目(编号:06QA14033)资助
关键词 拷贝数变异 单核苷酸多态 国际单倍体计划 copy number variation single nucleotide polymorphisms the International HapMap Project
分类号 Q3 [生物学—遗传学]
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  • 1Venter JC, Adams MD, Myers EW, Li PW, Mural R J,Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA,Gocayne JD, Amanatides P, Ballew RM, Huson DH,Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L,Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J,McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M,Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I,Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S,Kravitz S, Levy S, Mobarry C, Reinert K, Remington K,Abu-Threideh J, Beasley E, Biddick K, Bonazzi V,Brandon R, Cargill M, Chandramouliswaran I, Charlab R,Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K,Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, GuZ, Guan P, Heiman T J, Higgins ME, Ji RR, Ke Z,Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, LuF, Merkulov GV, Milshina N, Moore HM, Naik AK,Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X,Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J,Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F,Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A,Baldwin D, Baden H, Barnstead M, Barrow [, Beeson K,Busam D, Carver A, Center A, Cheng ML, Curry L,Danaher S, Davenport L, Desilets R, Dietz S, Dodson K,Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B,Haynes J, Haynes C, Heiner C, Hladun S, Hostin D,Houck J, Howland T, Ibegwam C, Johnson J, Kalush F,Kline L, Koduru S, Love A, Mann F, May D, McCawley S,Mclntosh T, McMullen I, Moy M, Moy L, Murphy B,Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H,Reardon M, Rodriguez R, Rogers YH, Romblad D, RuhfelB, Scott R, Sitter C, Smallwood M, Stewart E, Strong R,Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G,Wetter J, Williams S, Williams M, Windsor S, Winn-DeenE, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R,Campbell M J, Sjolander KV, Karlak B, Kejariwal A, Mi H,Lazareva B, Hatton T, Narechania A, Diemer K,Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, LippertR, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A,Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P,Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M,Donnelly M, Ely D, Esparham S, Fosler C, Gire H,Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J,Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C,Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W,McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N,Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R,Scott J, Simpson M, Smith T, Sprague A, Stockwell T,Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A,Zandieh A, Zhu X. The sequence of the human genome,2001,1304-1351.
  • 2Iafrate A J, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet, 2004, 36(9): 949-951.
  • 3Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. Large-scale copy number polymorphism in the human genome. Science, 2004, 305(5683): 525-528.
  • 4Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Res, 2006, 16(8): 949-961.
  • 5Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet, 2006, 7(2): 85-97.
  • 6Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet, 2006, 120(2): 270-284.
  • 7Lejeune J, Turpin R, Gautier M. Mongolism; a chromosomal disease (trisomy). Bull Acad Natl Med, 1959, 143(11-12): 256-265.
  • 8Hollox EJ, Armour JA, Barber JC. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet, 2003, 73(3): 591-600.
  • 9Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC,Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W,Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K,Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J,Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C,Stange-Thomann N, Stojanovic N, Subramanian A,Wyman D, Rogers J, Sulston J, Ainscough R, Beck S,Bentley D, Burton J, Clee C, Carter N, Coulson A,Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R,French L, Grafham D, Gregory S, Hubbard T, Humphray S,Hunt A, Jones M, Lloyd C, McMurray A, Matthews L,Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R,Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK,Hillier LW, McPherson JD, Marra MA, Mardis ER, FultonLA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL,Wendl MC, Delehaunty KD, Miner TL, Delehaunty A,Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ,Clifton SW, Hawkins T, Branscomb E, Predki P,Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF,Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M,Gibbs RA, Muzny DM, Scherer SE, Bouck JB, SodergrenE J, Worley KC, Rives CM, Gorrell JH, Metzker ML,Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM,Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T,Weissenbach J, Heilig R, Saurin W, Artiguenave F,Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, SmithDR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G,Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J,Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor M J, Myers RM, Scbmutz J,Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R,Raymond C, Shimizu N, Kawasaki K, Minoshima S,Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F,Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR,de la Bastide M, Dedhia N, Blocker H, Hornischer K,Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB,Cerutti L, Chen HC, Church D, Clamp M, Copley RR,Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J,Gilbert JG, Harmon C, Hayashizaki Y, Haussler D,Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA,Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P,Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM,McLysaght A, Mikkelsen T, Moran JV, Mulder N, PollaraVJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF,Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-MiegJ, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI,Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS,Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A,Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, ShizuyaH, Choi S, Chen YJ. Initial sequencing and analysis of the human genome. Nature, 2001, 409(6822): 860-921.
  • 10Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet, 2006, 38(1): 75-81.

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