LINE-1 Elements in Structural Variation and Disease

被引：406

作者：

Beck, Christine R. ^{[1
]}

Luis Garcia-Perez, Jose ^{[4
,5
]}

Badge, Richard M. ^{[6
]}

Moran, John V. ^{[1
,2
,3
]}

机构：

[1] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA

[3] Univ Michigan, Sch Med, Howard Hughes Med Inst, Ann Arbor, MI 48109 USA

[4] Univ Granada, Ctr Biomed Res, Andalusian Stem Cell Bank, Granada 18100, Spain

[5] Univ Granada, Pfizer, Andalusian Govt Ctr Genom & Oncol, Dept Human DNA Variabil,GENYO, Granada 18107, Spain

[6] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12 | 2011年 / 12卷

基金：

英国惠康基金;

关键词：

retrotransposon; polymorphism; transposable elements; genome diversity; mutation; HUMAN ENDOGENOUS RETROVIRUS; HUMAN L1 RETROTRANSPOSITION; X-CHROMOSOME INACTIVATION; HUMAN GENOMIC DIVERSITY; HUMAN GENETIC-DISEASE; EMBRYONIC STEM-CELLS; OPEN READING FRAME; RIBONUCLEOPROTEIN PARTICLE FORMATION; HIGH-FREQUENCY RETROTRANSPOSITION; INTERSPERSED NUCLEAR ELEMENT-1;

D O I：

10.1146/annurev-genom-082509-141802

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The completion of the human genome reference sequence ushered in a new era for the study and discovery of human transposable elements. It now is undeniable that transposable elements, historically dismissed as junk DNA, have had an instrumental role in sculpting the structure and function of our genomes. In particular, long interspersed element-1 (LINE-1 or L1) and short interspersed elements (SINEs) continue to affect our genome, and their movement can lead to sporadic cases of disease. Here, we briefly review the types of transposable elements present in the human genome and their mechanisms of mobility. We next highlight how advances in DNA sequencing and genomic technologies have enabled the discovery of novel retrotransposons in individual genomes. Finally, we discuss how L1-mediated retrotransposition events impact human genomes.

引用

页码：187 / 215

页数：29

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