LINE-1 Retrotransposition Activity in Human Genomes

被引：442

作者：

Beck, Christine R. ^{[1
]}

Collier, Pamela ^{[4
]}

Macfarlane, Catriona ^{[4
]}

Malig, Maika ^{[5
]}

Kidd, Jeffrey M. ^{[5
]}

Eichler, Evan E. ^{[5
,6
]}

Badge, Richard M. ^{[4
]}

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

机构：

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

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

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

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

[5] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[6] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

CELL | 2010年 / 141卷 / 07期

基金：

英国惠康基金; 美国国家科学基金会;

关键词：

HIGH-FREQUENCY RETROTRANSPOSITION; MULTIPLE SEQUENCE ALIGNMENT; HUMAN L1 RETROTRANSPOSITION; CULTURED HUMAN-CELLS; STRUCTURAL VARIATION; TRANSCRIPTION INITIATION; MAMMALIAN-CELLS; ELEMENTS; ENDONUCLEASE; DIVERSITY;

D O I：

10.1016/j.cell.2010.05.021

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：

Highly active (i.e., "hot") long interspersed element-1 (LINE-1 or L1) sequences comprise the bulk of retrotransposition activity in the human genome; however, the abundance of hot L1s in the human population remains largely unexplored. Here, we used a fosmid-based, paired-end DNA sequencing strategy to identify 68 full-length L1s that are differentially present among individuals but are absent from the human genome reference sequence. The majority of these L1s were highly active in a cultured cell retrotransposition assay. Genotyping 26 elements revealed that two L1s are only found in Africa and that two more are absent from the H952 subset of the Human Genome Diversity Panel. Therefore, these results suggest that hot L1s are more abundant in the human population than previously appreciated, and that ongoing L1 retrotransposition continues to be a major source of interindividual genetic variation.

引用

页码：1159 / U110

页数：19

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