Human Transposon Tectonics

被引：218

作者：

Burns, Kathleen H. ^{[1
,2
,3
,4
]}

Boeke, Jef D. ^{[2
,3
,4
,5
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA

[2] Johns Hopkins Univ, Sch Med, High Throughput Biol Ctr, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, Inst Genet Med, Baltimore, MD 21205 USA

[5] Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

来源：

CELL | 2012年 / 149卷 / 04期

关键词：

CONGENITAL MUSCULAR-DYSTROPHY; HUMAN L1 RETROTRANSPOSITION; HUMAN GENOME; REPETITIVE ELEMENTS; LINE-1; RETROTRANSPOSITION; ENDOGENOUS RETROVIRUSES; DNA METHYLATION; RETINITIS-PIGMENTOSA; PIRNA AMPLIFICATION; ANTISENSE PROMOTER;

D O I：

10.1016/j.cell.2012.04.019

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mobile DNAs have had a central role in shaping our genome. More than half of our DNA is comprised of interspersed repeats resulting from replicative copy and paste events of retrotransposons. Although most are fixed, incapable of templating new copies, there are important exceptions to retrotransposon quiescence. De novo insertions cause genetic diseases and cancers, though reliably detecting these occurrences has been difficult. New technologies aimed at uncovering polymorphic insertions reveal that mobile DNAs provide a substantial and dynamic source of structural variation. Key questions going forward include how and how much new transposition events affect human health and disease.

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收藏

页码：740 / 752

页数：13

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