Human Genomic Deletions Mediated by Recombination between Alu Elements
| Autor: | Hui Wang, Richard Cordaux, Matthew D. Dyer, Shurjo K. Sen, Jianxin Wang, Kyudong Han, Pauline A. Callinan, Mark A. Batzer, Ping Liang, Jungnam Lee |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Transposable element
Lineage (genetic) Pan troglodytes Molecular Sequence Data Alu element Genomics Biology Polymerase Chain Reaction Genome Article Chimpanzee genome project Macular Degeneration 03 medical and health sciences 0302 clinical medicine Genetics Animals Humans Genetics(clinical) Gene Genetics (clinical) Repetitive Sequences Nucleic Acid 030304 developmental biology Recombination Genetic 0303 health sciences Genome Human 030220 oncology & carcinogenesis Human genome Monte Carlo Method Gene Deletion |
| Zdroj: | The American Journal of Human Genetics. 79:41-53 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/504600 |
| Popis: | Recombination between Alu elements results in genomic deletions associated with many human genetic disorders. Here, we compare the reference human and chimpanzee genomes to determine the magnitude of this recombination process in the human lineage since the human-chimpanzee divergence approximately 6 million years ago. Combining computational data mining and wet-bench experimental verification, we identified 492 human-specific deletions (for a total of approximately 400 kb) attributable to this process, a significant component of the insertion/deletion spectrum of the human genome. The majority of the deletions (295 of 492) coincide with known or predicted genes (including 3 that deleted functional exons, as compared with orthologous chimpanzee genes), which implicates this process in creating a substantial portion of the genomic differences between humans and chimpanzees. Overall, we found that Alu recombination-mediated genomic deletion has had a much higher impact than was inferred from previously identified isolated events and that it continues to contribute to the dynamic nature of the human genome. |
| Databáze: | OpenAIRE |
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