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SVA反转录转座子的研究进展 被引量：1

Research progress in the SVA retrotransposon
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摘要 SVA反转录转座子在人类基因组中的拷贝数约2 700个,可通过DNA-RNA-DNA的途径实现反转录转座,SVA插入到基因组中,从而改变基因组的结构和功能。SVA反转录转座子不仅对人类基因组的进化做出了重要贡献,还是多种疾病的重要原因。 The SVA retrotransposon has approximately 2 700 copies in the human genome,and insertes into the ge-nome through the pathway of the DNA-RNA-DNA retrotransposition, it changs the structure and function of the ge-nome. SVA retrotransposon not only makes an important contribution to the human genome ewolution,but also causedeseases.
作者 谈丹丹 洪道俊 吴裕臣
机构地区 南昌大学第一附属医院神经内科
出处 《基础医学与临床》 CSCD 北大核心 2013年第4期496-499,共4页 Basic and Clinical Medicine
关键词 SVA 反转录转座子 选择性剪接 SVA retrotransposon alternative splicing
分类号 R346 [医药卫生—基础医学]
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同被引文献13

  • 1Bodak M, Yu J, Ciaudo C. Regulation of LINE- 1 in mam- mals [ J]. Biomol Concepts, 2014, 5: 409-428.
  • 2Kazazian HH, Wong C, Youssoufian H, et al. Haemophilia A resulting from de novo insertion of L1 sequences repre-sents a novel mechanism for mutation in man [ J ]. Nature, 1988, 332: 164-166.
  • 3Kawano H, Saeki H, Kitao H, et al. Chromosomal Insta- bility Associated with Global DNA Hypomethylation is Asso- ciated with the Initiation and Progression of Esophageal Squamous Cell Carcinoma [ J ]. Ann Surg Oncol, 2014, 21, 696-702.
  • 4Crow MK. Long interspersed nuclear elements ( LINE- 1 ) : potential triggers of systemic autoimmune disease [ J ]. Au- toimmunity, 2010, 43 : 7-16.
  • 5Sukapan P, Promnarate P, Avihingsanon Y, et al. Types of DNA methylation status of the interspersed repetitive se- quences for LINE- 1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls [J]. J Hum Genet, 2014, 59: 178-188.
  • 6CQufal NG, Garcia-Perez JL, Peng GE, et al. Ataxia telan- giectasia mutated (ATM) modulates long interspersed ele- ment- 1 (L1) retrotransposition in human neural stem ceils [J]. Proc Natl Acad Sci U S A, 2011, 108: 20382-20387.
  • 7Bundo M, Toyoshima M, Okada Y, et al. Increased 11 ret- rotransposition in the neuronal genome in schizophrenia [J]. Neuron, 2013, 81: 306-313.
  • 8Amir RE, Van den Veyver IB, Wan M, et al. Rett syn- drome is caused by mutations in X-linked MECP2, enco- ding methyl-CpG-binding protein 2 [ J]. Nat Genet, 1999, 23 : 185-188.
  • 9Kulpa DA, Moran JV. Ribonucleoprotein particle forma- tion is necessary but not sufficient for LINE-1 retrotrans- position [ J]. Hum Mol Genet, 2005, 14: 3237-3248.
  • 10Baillie JK, Barnett MW, Upton KR, et al. Somatic retro- transposition alters the genetic landscape of the human brain [J]. Nature, 2011, 479: 534-537.

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基础医学与临床
2013年 第4期

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