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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Cordaux, Richard Seleme, Maria Del Carmen Vetter, Melissa R. Bastone, Laurel Batzer, Mark A. Kazazian, Haig H. |
| Description | Author Affiliation: Seleme MC ( Department of Genetics, Division of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.); |
| Abstract | Despite being scarce in the human genome, active L1 retrotransposons continue to play a significant role in its evolution. Because of their recent expansion, many L1s are not fixed in humans, and, when present, their mobilization potential can vary among individuals. Previously, we showed that the great majority of retrotransposition events in humans are caused by highly active, or hot, L1s. Here, in four populations of diverse geographic origins (160 haploid genomes), we investigated the degree of sequence polymorphism of three hot L1s and the extent of individual variation in mobilization capability of their allelic variants. For each locus, we found one previously uncharacterized allele in every three to five genomes, including some with nonsense and insertion/deletion mutations. Single or multiple nucleotide substitutions drastically affected the retrotransposition efficiency of some alleles. One-third of elements were no longer hot, and these so-called cool alleles substantially increased the range of individual susceptibility to retrotransposition events. Adding the activity of the three elements in each individual resulted in a surprising degree of variation in mobilization capability, ranging from 0% to 390% of a reference L1. These data suggest that individual variation in retrotransposition potential makes an important contribution to human genetic diversity. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 17 |
| Volume Number | 103 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2006-04-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Genetic Variation Retroelements Alleles Evolution, Molecular Genetics, Population Models, Genetic Polymorphism, Genetic Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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