Hot L1s account for the bulk of retrotransposition in the human population
University of Leicester · University of Michigan · +1 more institution
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,…
Citation impact
- FWCI
- 43.08
- Percentile
- 100%
- References
- 42
Authors
7- BBBrook BrouhaCorresponding
University of Leicester, University of Michigan, University of Pennsylvania
- JSJoshua Schustak
University of Leicester, University of Michigan, University of Pennsylvania
- RMRichard M. Badge
University of Leicester, University of Michigan, University of Pennsylvania
- SLSheila Lutz
University of Leicester, University of Michigan, University of Pennsylvania
- AHAlexander H. Farley
University of Leicester, University of Michigan, University of Pennsylvania
Topics & keywords
- Retrotransposon
- ORFS
- Biology
- Genetics
- Human genome
- Genome
- Population
- Gene