NDLI: Hot L1s account for the bulk of retrotransposition in the human population.

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Hot L1s account for the bulk of retrotransposition in the human population.

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Hot L1s account for the bulk of retrotransposition in the human population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Badge, Richard M. Farley, Alexander H. Schustak, Joshua Brouha, Brook Lutz-prigge, Sheila Moran, John V. Kazazian, Haig H.
Description	Author Affiliation: Brouha B ( Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.);
Abstract	Although LINE-1 (long interspersed nucleotide element-1, L1) retrotransposons comprise 17% of the human genome, an exhaustive search of the December 2001 'freeze' of the haploid human genome working draft sequence (95% complete) yielded only 90 L1s with intact ORFs. We demonstrate that 38 of 86 (44%) L1s are polymorphic as to their presence in human populations. We cloned 82 (91%) of the 90 L1s and found that 40 of the 82 (49%) are active in a cultured cell retrotransposition assay. From these data, we predict that there are 80-100 retrotransposition-competent L1s in an average human being. Remarkably, 84% of assayed retrotransposition capability was present in six highly active L1s (hot L1s). By comparison, four of five full-length L1s involved in recent human insertions had retrotransposition activity comparable to the six hot L1s in the human genome working draft sequence. Thus, our data indicate that most L1 retrotransposition in the human population stems from hot L1s, with the remaining elements playing a lesser role in genome plasticity.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	9
Volume Number	100
Language	English
Publisher	National Academy of Sciences
Publisher Date	2003-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Long Interspersed Nucleotide Elements Retroelements Alleles Gene Frequency Open Reading Frames Phylogeny Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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