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Great ape mutation spectra vary across the phylogeny and the genome due to distinct mutational processes that evolve at different rates

View ORCID ProfileMichael E. Goldberg, View ORCID ProfileKelley Harris
doi: https://doi.org/10.1101/805598
Michael E. Goldberg
University of Washington Department of Genome Sciences
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  • For correspondence: goldmich@uw.edu
Kelley Harris
University of Washington Department of Genome SciencesFred Hutchinson Cancer Center Computational Biology Division
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ABSTRACT

Recent studies of hominoid variation have shown that mutation rates and spectra can evolve rapidly, contradicting the fixed molecular clock model. The relative mutation rates of three-base-pair motifs differ significantly among great ape species, suggesting the action of unknown modifiers of DNA replication fidelity. To illuminate the footprints of these hypothetical mutators, we measured mutation spectra of several functional compartments (such as late-replicating regions) that are likely targeted by localized mutational processes. Using genetic diversity from 88 great apes, we find that compartment-specific mutational signatures appear largely conserved between species. These signatures layer with species-specific signatures to create rich mutational portraits: for example, late-replicating regions in gorillas contain an identifiable mixture of a replication timing signature and a gorilla-specific signature. Our results suggest that cis-acting mutational modifiers are highly conserved between species and transacting modifiers are driving rapid mutation spectrum 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 October 15, 2019.
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Great ape mutation spectra vary across the phylogeny and the genome due to distinct mutational processes that evolve at different rates
Michael E. Goldberg, Kelley Harris
bioRxiv 805598; doi: https://doi.org/10.1101/805598
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Great ape mutation spectra vary across the phylogeny and the genome due to distinct mutational processes that evolve at different rates
Michael E. Goldberg, Kelley Harris
bioRxiv 805598; doi: https://doi.org/10.1101/805598

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