Recombination hotspots are regions in a genome that exhibit elevated rates of recombination, relative to a neutral expectation. The peak recombination rate within hotspots can be hundreds or thousands of times that of the surrounding region. The PRDM9 protein is suspected to be a cause of hotspots in mammals. All hotspots so far characterized share similar morphology and are approximately 1.5 to 2.0 kb in width, which suggests a common causal process. Furthermore, recent studies have used patterns in linkage disequilibrium to identify over 25,000 hotspots in the human genome, suggesting that hotspots are a ubiquitous feature of the genome. In humans, the average number of crossover recombination events per hotspot is one crossover per 1,300 meioses, and the most extreme hotspot has a crossover frequency of one per 110 meioses.
The large number of recombination hotspots is consistent with a wide distribution of sites. These sites may be particularly vulnerable to naturally occurring (un-programmed) DNA damages that are subject to recombinational repair, and may also include specific sites where a crossover is needed to promote synapsis of the paired homologous chromosomes.
- Researchers find surprising difference between human and chimp genomes "Despite 99% DNA similarity between humans and our nearest relative, chimpanzees, the locations of DNA swapping between chromosomes, known as recombination hotspots, are almost entirely different. The surprising finding is reported in a paper published [in 2005] in Science by Oxford University statisticians and US and Dutch geneticists."
- What's so hot about recombination hotspots? A primer on recombination hotspots by Jody Hey in PLoS Biology
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- Harris Bernstein, Carol Bernstein and Richard E. Michod (2011). Meiosis as an Evolutionary Adaptation for DNA Repair. Chapter 19 in DNA Repair. Inna Kruman editor. InTech Open Publisher. DOI: 10.5772/25117 http://www.intechopen.com/books/dna-repair/meiosis-as-an-evolutionary-adaptation-for-dna-repair
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