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Article Dans Une Revue BMC Genomics Année : 2019

Archaic mitochondrial DNA inserts in modern day nuclear genomes

Robert Bücking
Murray Cox
  • Fonction : Auteur
Georgi Hudjashov
  • Fonction : Auteur
Lauri Saag
  • Fonction : Auteur
Herawati Sudoyo
  • Fonction : Auteur

Résumé

Abstract Background Traces of interbreeding of Neanderthals and Denisovans with modern humans in the form of archaic DNA have been detected in the genomes of present-day human populations outside sub-Saharan Africa. Up to now, only nuclear archaic DNA has been detected in modern humans; we therefore attempted to identify archaic mitochondrial DNA (mtDNA) residing in modern human nuclear genomes as nuclear inserts of mitochondrial DNA (NUMTs). Results We analysed 221 high-coverage genomes from Oceania and Indonesia using an approach which identifies reads that map both to the nuclear and mitochondrial DNA. We then classified reads according to the source of the mtDNA, and found one NUMT of Denisovan mtDNA origin, present in 15 analysed genomes; analysis of the flanking region suggests that this insertion is more likely to have happened in a Denisovan individual and introgressed into modern humans with the Denisovan nuclear DNA, rather than in a descendant of a Denisovan female and a modern human male. Conclusions Here we present our pipeline for detecting introgressed NUMTs in next generation sequencing data that can be used on genomes sequenced in the future. Further discovery of such archaic NUMTs in modern humans can be used to detect interbreeding between archaic and modern humans and can reveal new insights into the nature of such interbreeding events.

Dates et versions

hal-04604764 , version 1 (07-06-2024)

Identifiants

Citer

Robert Bücking, Murray Cox, Georgi Hudjashov, Lauri Saag, Herawati Sudoyo, et al.. Archaic mitochondrial DNA inserts in modern day nuclear genomes. BMC Genomics, 2019, 20 (1), pp.1017. ⟨10.1186/s12864-019-6392-8⟩. ⟨hal-04604764⟩
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