期刊
SCIENCE
卷 364, 期 6442, 页码 749-+出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aau6520
关键词
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资金
- Genomics England Rare Diseases pilot projects
- National Institute for Health Research of England (NIHR)
- UK Medical Research Council (MRC) [212219/Z/18/Z]
- Medical Research Council Mitochondrial Biology Unit [MC_UU_00015/9]
- Evelyn Trust
- NIHR Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust
- University of Cambridge
- British Heart Foundation
- Bristol-Myers Squibb
- European Commission
- MRC
- NHS Blood and Transplant, Rosetrees Trust
- University of Cambridge - NIHR Biomedical Research Centre at St Bartholomew's Hospital
- NIHR Biomedical Research Centre, Oxford
- Wellcome Trust [WT098519MA]
- MRC UK [G1002570]
- ERC [309548]
- Moorfields Eye Charity - RP Fighting Blindness
- UCL Institute of Ophthalmology
- Moorfields NIHR Biomedical Resource Centre
- Bristol NIHR Biomedical Research Centre
- Imperial College Healthcare NHS Trust BRC
- Guy's and St Thomas' NHS Foundation Trust and King's College London BRC - European Commission [ID633491]
- Novo Nordisk Foundation [NNF14SA0006, 202747/Z/16/Z]
- NIHR-BRC of UCL Institute of Ophthalmology
- Moorfields Eye Hospital
- NIHR Translational Research Collaboration-Rare Diseases
- H.J.B. works for the Netherlands CardioVascular Research Initiative (CVON)
- British Society of Haematology
- MRC Programme Grant [MR/L019027/1, 090532, 0938381]
- BHF Programme [RG/16/4/32218]
- Imperial College NIHR BRC
- Fight for Sight [1570/1571, 24TP171]
- NIHR [IS-BRC-1215-20002, 109915/Z/15/Z]
- Wellcome Centre for Mitochondrial Research [203105/Z/16/Z]
- Medical Research Council (UK) [MR/N025431/1]
- European Research Council [309548, 201064/Z/16/Z]
- Newton Fund (UK/Turkey) [MR/N027302/1]
- European Union H2020-Research and Innovation Actions
- Research Council of the University of Leuven (BOF KU Leuven, Belgium) [OT/14/098]
- NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield NHS Foundation Trust and Imperial College London - NIHR-Biomedical Research Centre at Moorfields Eye Hospital
- Fight for Sight (UK) Early Career Investigator Award
- Moorfields Eye Hospital Special Trustees
- Moorfields Eye Charity
- Foundation Fighting Blindness (USA)
- Retinitis Pigmentosa Fighting Blindness
- MRC Clinical Research Training Fellowship [MR/J011711/1]
- holds a NIHR [NIHR-RP-2016-07-019]
- Wellcome Intermediate Fellowship [098524/Z/12/A.]
- Cancer Research UK Cambridge Cancer Centre Clinical Research Training Fellowship
- Medical Research Council Senior Clinical Fellowship [MR/L006340/1]
- MRC
- Kidney Research UK
- St Peters Trust for Kidney, Bladder and Prostate Research - Kids Kidney Research
- Health Education England
- NIHR Translational Research Collaboration Rare Diseases
- Northern Counties Kidney Research Fund
- Department of Health's NIHR Biomedical Research Centres funding scheme
- NIHR-BRC - NIHR Great Ormond Street Hospital Biomedical Research Centre
- European Research Council (ERC) [309548] Funding Source: European Research Council (ERC)
- National Institutes of Health Research (NIHR) [IS-BRC-1215-20002] Funding Source: National Institutes of Health Research (NIHR)
- Fight for Sight [24TP171] Funding Source: researchfish
- Medical Research Council [G1002570, G0701386] Funding Source: researchfish
- Wellcome Trust [098524/Z/12/A] Funding Source: Wellcome Trust
- BBSRC [BB/S006788/1] Funding Source: UKRI
- MRC [MR/S01165X/1, MC_PC_14089, MR/L006340/1, G9521010, MR/J011711/1, 1964807, G0701386, MR/M009203/1, G1002570, MC_PC_15069, MR/L019027/1, G1002528, MC_EX_MR/M009203/1, MC_PC_15080] Funding Source: UKRI
Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother-offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.
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