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Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations

Abstract:

Vital mitochondrial DNA (mtDNA) populations exist in cells and may consist of heteroplasmic mixtures of mtDNA types. The evolution of these heteroplasmic populations through development, ageing, and generations is central to genetic diseases, but is poorly understood in mammals. Here we dissect these population dynamics using a dataset of unprecedented size and temporal span, comprising 1947 single-cell oocyte and 899 somatic measurements of heteroplasmy change throughout lifetimes and genera...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/s41467-018-04797-2

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Women’s & Reproductive Health
Role:
Author
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Communications Journal website
Volume:
9
Pages:
Article: 2488
Publication date:
2018-06-27
Acceptance date:
2018-05-22
DOI:
ISSN:
2041-1723
Pubs id:
pubs:864259
URN:
uri:1f8507ea-445f-43bc-bd9d-58ef4d8e3faf
UUID:
uuid:1f8507ea-445f-43bc-bd9d-58ef4d8e3faf
Local pid:
pubs:864259
Language:
English

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