Recombination Hotspots

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Human Uniqueness Compared to "Great Apes": 
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Recombination hotspots are regions of the genome that undergo recombination at significantly higher rates than average and contribute to genomic diversity within and between populations. Hotspots are present at multiple locations in the human genome; regions enriched for these hotspots include telomeres, and their neighboring sequences, as well as other regions containing repetitive sequences such as segmental duplications. Recombination in the primate lineage has been implicated as a major contributor to human evolution. This is supported by the high rates of recombination in areas that are also enriched in human lineage-specific changes, and by the inherent genomic instability conferred by recombination hotspots. This instability would theoretically produce an excess of genomic variability subject to selection over time. In line with this argument, recent research has found that while some hotspots of recombination are shared between humans and non-human primates, humans also have a number of hotspot locations that are unique. This research has been done primarily comparing humans to chimpanzees, and thus further work is needed to confirm that these locations are indeed human-specific, but it does provide evidence that unique human recombination hotspots may contribute to human-specific genomic changes.

The Human Difference: 

Unique hotspot locations
Production of human-specific sequence via recombination

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  1. What drives recombination hotspots to repeat DNA in humans?, McVean, Gil , Philos Trans R Soc Lond B Biol Sci, 04/2010, Volume 365, Issue 1544, p.1213-8, (2010)
  2. A fine-scale map of recombination rates and hotspots across the human genome., Myers, Simon, Bottolo Leonardo, Freeman Colin, McVean Gil, and Donnelly Peter , Science, 10/2005, Volume 310, Issue 5746, p.321-4, (2005)
  3. Comparison of fine-scale recombination rates in humans and chimpanzees., Winckler, W., Myers S. R., Richter D. J., Onofrio R. C., McDonald G. J., Bontrop R. E., McVean G. A. T., Gabriel S. B., Reich D., Donnelly P., et al. , Science, 04/2005, Volume 308, Issue 5718, p.107-11, (2005)
  4. What's so hot about recombination hotspots?, Hey, Jody , PLoS Biol, 2004 Jun, Volume 2, Issue 6, p.e190, (2004)