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The Red Queen Model of Recombination Hotspots Evolution in the Light of Archaic and Modern Human Genomes


In eukaryotic genomes, recombination plays a central role by ensuring the proper segregation of chromosomes during meiosis and increasing genetic diversity at the population scale. Recombination events are not uniformly distributed along chromosomes, but cluster in narrow regions called hotspots. The absence of overlap between human and chimpanzee hotspots indicates that the location of these hotspots evolves rapidly. However, the reasons for this rapid dynamic are still unknown. To gain insight into the processes driving the evolution of recombination hotspots we analyzed the recent history of human hotspots, using the genome of a closely related archaic hominid, Denisovan. We searched for genomic signatures of past recombination activity and compared them to present-day patterns of recombination in humans. Our results show that human hotspots are younger than previously thought and that they are not conserved in Denisovans. Moreover, we confirm that hotspots are subject to a self-destruction process, due to biased gene conversion. We quantified this process, and showed that its intensity is strong enough to cause the fast turnover of human hotspots.


Vyšlo v časopise: The Red Queen Model of Recombination Hotspots Evolution in the Light of Archaic and Modern Human Genomes. PLoS Genet 10(11): e32767. doi:10.1371/journal.pgen.1004790
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004790

Souhrn

In eukaryotic genomes, recombination plays a central role by ensuring the proper segregation of chromosomes during meiosis and increasing genetic diversity at the population scale. Recombination events are not uniformly distributed along chromosomes, but cluster in narrow regions called hotspots. The absence of overlap between human and chimpanzee hotspots indicates that the location of these hotspots evolves rapidly. However, the reasons for this rapid dynamic are still unknown. To gain insight into the processes driving the evolution of recombination hotspots we analyzed the recent history of human hotspots, using the genome of a closely related archaic hominid, Denisovan. We searched for genomic signatures of past recombination activity and compared them to present-day patterns of recombination in humans. Our results show that human hotspots are younger than previously thought and that they are not conserved in Denisovans. Moreover, we confirm that hotspots are subject to a self-destruction process, due to biased gene conversion. We quantified this process, and showed that its intensity is strong enough to cause the fast turnover of human hotspots.


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Genetika Reprodukčná medicína

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