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PMID: 20602998 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

LINE-1 retrotransposition activity in human genomes.

Cell ·Vol. 141 ·No. 7 ·2010-06-25 ·Pages 1159-70

Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV

Abstract

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.

MeSH Terms
Base Sequence Gene Frequency Genetics, Population Genome, Human Humans Long Interspersed Nucleotide Elements Molecular Sequence Data Phylogeny
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Beck Christine R
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA. cregina@umich.edu <cregina@umich.edu>
Collier Pamela
Macfarlane Catriona
Malig Maika
Kidd Jeffrey M
Eichler Evan E
Badge Richard M
Moran John V
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Article Info
Journal
Cell
Abbr.
Cell
ISSN
1097-4172
DOI
10.1016/j.cell.2010.05.021
Email
cregina@umich.edu
Published
2010-06-25
Pages
1159-70
Language
English
Region
United States
NLM ID
0413066
PMCID
PMC3013285
Subset
IM
Grants
NCI NIH HHS · 5P30CA46592 · United States
NIGMS NIH HHS · R01 GM066695 · United States
NCI NIH HHS · P30 CA046592 · United States
NIGMS NIH HHS · R01 GM060518 · United States
NHGRI NIH HHS · T32 HG000040 · United States
Wellcome Trust · 075163/Z/04/Z · United Kingdom
NHGRI NIH HHS · HG004120 · United States
Howard Hughes Medical Institute · United States
NIGMS NIH HHS · R01 GM060518-12 · United States
NIGMS NIH HHS · T32 GM007544 · United States
NIGMS NIH HHS · R01 GM082970 · United States
NIGMS NIH HHS · T32GM7544 · United States
NIGMS NIH HHS · GM066695 · United States
PHS HHS · T32000040 · United States
Wellcome Trust · 075163 · United Kingdom
NHGRI NIH HHS · P01 HG004120 · United States
NIGMS NIH HHS · GM060518 · United States
Corrections
CommentIn
PMID: 20602993
CommentIn
PMID: 20628350
CommentIn
PMID: 20704015
External Links
PubMed source DOI: 10.1016/j.cell.2010.05.021 PMC Full Text View journal details
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