Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

Abstract DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought to be ancient, preceding human speciation 1–3 . Here we analyse whole-genome sequences from 66,083 people—including 12,509 people with cancer—and demonstrate the ongoing transfer of mitochondrial DNA into the nucleus, contributing to a complex NUMT landscape. More than 99% of individuals had at least one of 1,637 different NUMTs, with 1 in 8 individuals having an ultra-rare NUMT that is present in less than 0.1% of the population. More than 90% of the extant NUMTs that we evaluated inserted into the nuclear genome after humans diverged…

• WT
  Wellcome Trust

  Awards: 212219/Z/18/Z, MR/S005021/1
• AS
  Alzheimer's Society

  Award: AS-PG-18b-022
• CR
  Cancer Research UK
• NI
  National Institute for Health and Care Research

  Award: MR/S005021/1
• LT
  Leverhulme Trust

  Awards: RPG-2018-408, AS-PG-18b-022
• DO
  Department of Health and Social Care
• UO
  University of Cambridge
• CU
  Cambridge University Hospitals
• MR
  Medical Research Council

  Awards: MR/S035699/1, MC_UU_00015/9, MC_UU_00015/7, MC_PC_13047, MR/S005021/1, MR/S005021/1, MR/M008886/1, MC_UU_00028/7
• EA
  Engineering and Physical Sciences Research Council

  Award: EP/N01426X/1