articleNatureAug 16, 2023HYBRID OA

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

RGRahul GuptaMKMasahiro KanaiTDTimothy DurhamKTKristin TsuoJGJason G. McCoy

Broad Institute · Howard Hughes Medical Institute · +4 more institutions

PubMed
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Abstract

Abstract Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation 1 . Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has been associated with disease and ageing. Mechanisms underlying common variation in human heteroplasmy, and the influence of the nuclear genome on this variation, remain insufficiently explored. Here we quantify mtDNA copy number (mtCN) and heteroplasmy using blood-derived whole-genome sequences from 274,832 individuals and perform genome-wide association studies to identify associated nuclear loci. Following blood cell composition correction, we find that mtCN declines linearly with age and is…

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Topics & keywords

Topics
Keywords
  • Heteroplasmy
  • Mitochondrial DNA
  • Biology
  • Genetics
  • Nuclear DNA
  • Indel
  • Genome
  • mtDNA control region
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