MtDNA in humans is not inherited from the paternal line

In a collaborative research study with the NIHR BioResource and Genomics England published in Nature Communications, Wei Wei and Patrick Chinnery explain how large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) can resemble paternally inherited mitochondrial DNA (mtDNA), and find no evidence of paternal transmission of mtDNA by studying whole genome sequences in 33,105 humans.

Citation: Wei, W., Pagnamenta, A.T., Gleadall, N. et al. Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nat Commun 11, 1740 (2020). https://doi.org/10.1038/s41467-020-15336-3

Collaborators:

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge

Wellcome Centre for Human Genetics, University of Oxford

National Institute for Health Research (NIHR) Oxford Biomedical Research Centre

Department of Haematology, University of Cambridge

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust

Genomics England & William Harvey Research Institute, Queen Mary University of London

Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford

Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge

Metabolic Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London

UCL Great Ormond Street Institute of Child Health, London