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Germline selection shapes human mitochondrial DNA diversity

Abstract:

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...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1126/science.aau6520

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Role:
Author
ORCID:
0000-0002-2945-3543
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Role:
Author
ORCID:
0000-0003-3606-4367
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Role:
Author
ORCID:
0000-0002-0329-5938
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Publisher:
American Association for the Advancement of Science Publisher's website
Journal:
Science Journal website
Volume:
364
Issue:
6442
Article number:
eaau6520
Publication date:
2019-05-24
Acceptance date:
2019-03-21
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
Pmid:
31123110
Source identifiers:
984445
Keywords:
Pubs id:
pubs:984445
UUID:
uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1b
Local pid:
pubs:984445
Deposit date:
2019-03-26

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