Recombination hotspots: Models and tools for detection |
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Affiliation: | 1. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA;2. Channing Division of Network Medicine, Harvard School of Public Health, Boston, MA 02115, USA;3. Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA;4. Division of Pulmonary and Critical Care Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA;5. Epidemiology, Human Genetics, & Environmental Sciences, University of Texas Health Science Center, Houston, TX 77225, USA;1. Department of Biostatistics, University of Washington, Seattle, WA 98195, USA;2. Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA;1. Department of Molecular and Cell Biology, University of California, Berkeley, CA, United States;2. Center for Computational Biology, University of California, Berkeley, CA, United States;1. Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA;2. Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA |
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Abstract: | Recombination hotspots are the regions within the genome where the rate, and the frequency of recombination are optimum with a size varying from 1 to 2 kb. The recombination event is mediated by the double-stranded break formation, guided by the combined enzymatic action of DNA topoisomerase and Spo 11 endonuclease. These regions are distributed non-uniformly throughout the human genome and cause distortions in the genetic map. Numerous lines of evidence suggest that the number of hotspots known in humans has increased manifold in recent years. A few facts about the hotspot evolutions were also put forward, indicating the differences in the hotspot position between chimpanzees and humans. In mice, recombination hot spots were found to be clustered within the major histocompatibility complex (MHC) region. Several models, that help explain meiotic recombination has been proposed. Moreover, scientists also developed some computational tools to locate the hotspot position and estimate their recombination rate in humans is of great interest to population and medical geneticists. Here we reviewed the molecular mechanisms, models and in silico prediction techniques of hot spot residues. |
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Keywords: | Recombination Hotspot Genome Homologous |
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