Characterization of nuclear mitochondrial insertions in the whole genomes of primates
Dayama, Gargi (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics)
Zhou, Weichen (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics)
Prado-Martinez, Javier (Wellcome Trust Sanger Institute (Regne Unit))
Marquès i Bonet, Tomàs 1975- (Institut Català de Paleontologia Miquel Crusafont)
Mills, Ryan E. (University of Michigan Medical School. Department of Human Genetics)

Data:	2020
Resum:	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.
Ajuts:	European Commission 864203 Agencia Estatal de Investigación BFU2017-86471-P Agencia Estatal de Investigación CEX2018-000792-M Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-880
Nota:	Altres ajuts: CERCA Programme/Generalitat de Catalunya i Obra Social "La Caixa"
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	NAR Genomics and Bioinformatics, Vol. 2, Issue 4 (December 2020) , art. lqaa089, ISSN 2631-9268

DOI: 10.1093/nargab/lqaa089
PMID: 33575633

11 p, 2.0 MB

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