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Stable recombination hotspots in birds

Sonal Singhal, Ellen M. Leffler, Keerthi Sannareddy, Isaac Turner, Oliver Venn, Daniel M. Hooper, Alva I. Strand, Qiye Li, Brian Raney, Christopher N. Balakrishnan, Simon C. Griffith, Gil McVean, Molly Przeworski
doi: https://doi.org/10.1101/023101
Sonal Singhal
Columbia University, Dept. of Biological Sciences, New York, NYColumbia University, Dept. of Systems Biology, New York, NY
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Ellen M. Leffler
University of Chicago, Dept. of Human Genetics, Chicago, ILUniversity of Oxford, Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
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Keerthi Sannareddy
University of Chicago, Dept. of Human Genetics, Chicago, IL
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Isaac Turner
University of Oxford, Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
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Oliver Venn
University of Oxford, Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
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Daniel M. Hooper
Committee on Evolutionary Biology, University of Chicago, Chicago, IL
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Alva I. Strand
Columbia University, Dept. of Biological Sciences, New York, NY
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Qiye Li
China National GeneBank, BGI-Shenzhen, China
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Brian Raney
University of California Santa Cruz, Center for Biomolecular Science & Engineering, Santa Cruz, CA
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Christopher N. Balakrishnan
East Carolina University, Biology, Greenville, NC
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Simon C. Griffith
Macquarie University, Dept. of Biological Sciences, Sydney, Australia
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Gil McVean
University of Oxford, Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
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Molly Przeworski
Columbia University, Dept. of Biological Sciences, New York, NYColumbia University, Dept. of Systems Biology, New York, NY
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Abstract

Although the DNA-binding protein PRDM9 plays a critical role in the specification of meiotic recombination hotspots in mice and apes, it appears to be absent from many vertebrate species, including birds. To learn about the determinants of fine-scale recombination rates and their evolution in natural populations lacking PRDM9, we inferred fine-scale recombination maps from population resequencing data for two bird species, the zebra finch Taeniopygia guttata, and the long-tailed finch, Poephila acuticauda, whose divergence is on par with that between human and chimpanzee. We find that both bird species have hotspots, and these are enriched near CpG islands and transcription start sites. In sharp contrast to what is seen in mice and apes, the hotspots are largely shared between the two species, with indirect evidence of conservation extending across bird species tens of millions of years diverged. These observations link the evolution of hotspots to their genetic architecture, suggesting that in the absence of PRDM9 binding specificity, accessibility of the genome to the cellular recombination machinery, particularly around functional genomic elements, both enables increased recombination and constrains its evolution.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted July 23, 2015.
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Stable recombination hotspots in birds
Sonal Singhal, Ellen M. Leffler, Keerthi Sannareddy, Isaac Turner, Oliver Venn, Daniel M. Hooper, Alva I. Strand, Qiye Li, Brian Raney, Christopher N. Balakrishnan, Simon C. Griffith, Gil McVean, Molly Przeworski
bioRxiv 023101; doi: https://doi.org/10.1101/023101
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Stable recombination hotspots in birds
Sonal Singhal, Ellen M. Leffler, Keerthi Sannareddy, Isaac Turner, Oliver Venn, Daniel M. Hooper, Alva I. Strand, Qiye Li, Brian Raney, Christopher N. Balakrishnan, Simon C. Griffith, Gil McVean, Molly Przeworski
bioRxiv 023101; doi: https://doi.org/10.1101/023101

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