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Characterization of nuclear mitochondrial insertions in the whole genomes of primates

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dc.contributor.author Dayama, Gargi
dc.contributor.author Zhou, Weichen
dc.contributor.author Prado Martínez, Javier, 1987-
dc.contributor.author Marquès i Bonet, Tomàs, 1975-
dc.contributor.author Mills, Ryan E.
dc.date.accessioned 2022-05-18T10:13:59Z
dc.date.available 2022-05-18T10:13:59Z
dc.date.issued 2020
dc.identifier.citation Dayama G, Zhou W, Prado-Martinez J, Marques-Bonet T, Mills RE. Characterization of nuclear mitochondrial insertions in the whole genomes of primates. NAR Genom Bioinform. 2020 Nov 16;2(4):lqaa089. DOI:10.1093/nargab/lqaa089
dc.identifier.issn 2631-9268
dc.identifier.uri http://hdl.handle.net/10230/53140
dc.description.abstract The transfer and integration of whole and partial mitochondrial genomes into the nuclear genomes of eukaryotes is an ongoing process that has facilitated the transfer of genes and contributed to the evolution of various cellular pathways. Many previous studies have explored the impact of these insertions, referred to as NumtS, but have focused primarily on older events that have become fixed and are therefore present in all individual genomes for a given species. We previously developed an approach to identify novel Numt polymorphisms from next-generation sequence data and applied it to thousands of human genomes. Here, we extend this analysis to 79 individuals of other great ape species including chimpanzee, bonobo, gorilla, orang-utan and also an old world monkey, macaque. We show that recent Numt insertions are prevalent in each species though at different apparent rates, with chimpanzees exhibiting a significant increase in both polymorphic and fixed Numt sequences as compared to other great apes. We further assessed positional effects in each species in terms of evolutionary time and rate of insertion and identified putative hotspots on chromosome 5 for Numt integration, providing insight into both recent polymorphic and older fixed reference NumtS in great apes in comparison to human events.
dc.description.sponsorship Funding: National Institutes of Health (1R01HG007068-01A1 to R.E.M). T.M.B is supported by funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No. 864203), BFU2017-86471-P (MINECO/FEDER, UE), “Unidad de Excelencia María de Maeztu”, funded by the AEI (CEX2018-000792-M), Howard Hughes International Early Career, Obra Social "La Caixa" and Secretaria d’Universitats i Recerca and CERCA Programme del Departament d’Economia i Coneixement de la Generalitat de Catalunya (GRC 2017 SGR 880)
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Oxford University Press
dc.rights © Gargi Dayama et al. 2020. Published by Oxford University Press on behalf of NAR Genomics and Bioinformatics. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Genòmica
dc.subject.other Genètica
dc.subject.other Primats
dc.title Characterization of nuclear mitochondrial insertions in the whole genomes of primates
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/0.1093/nargab/lqaa089
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/864203
dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/BFU2017-86471-P
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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