Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons
| Autor: | Ryan E. Mills, Erwin G. Van Meir, W. Stephen Pittard, Rebecca C. Iskow, Scott E. Devine, Paula M. Vertino, Michael T. McCabe, Spencer Torene, Andrew F. Neuwald |
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| Rok vydání: | 2010 |
| Předmět: |
Genetics
EVO_ECOL 0303 health sciences Biochemistry Genetics and Molecular Biology(all) HUMDISEASE Mutagenesis (molecular biology technique) Alu element Retrotransposon DNA Biology Genome General Biochemistry Genetics and Molecular Biology Germline 3. Good health Long interspersed nuclear element 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis Human genome Mobile genetic elements 030304 developmental biology |
| Zdroj: | Cell. 141:1253-1261 |
| ISSN: | 0092-8674 |
| DOI: | 10.1016/j.cell.2010.05.020 |
| Popis: | SummaryTwo abundant classes of mobile elements, namely Alu and L1 elements, continue to generate new retrotransposon insertions in human genomes. Estimates suggest that these elements have generated millions of new germline insertions in individual human genomes worldwide. Unfortunately, current technologies are not capable of detecting most of these young insertions, and the true extent of germline mutagenesis by endogenous human retrotransposons has been difficult to examine. Here, we describe technologies for detecting these young retrotransposon insertions and demonstrate that such insertions indeed are abundant in human populations. We also found that new somatic L1 insertions occur at high frequencies in human lung cancer genomes. Genome-wide analysis suggests that altered DNA methylation may be responsible for the high levels of L1 mobilization observed in these tumors. Our data indicate that transposon-mediated mutagenesis is extensive in human genomes and is likely to have a major impact on human biology and diseases. |
| Databáze: | OpenAIRE |
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