Journal article
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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Authors
Bibliographic Details
- 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
Item Description
- Keywords:
- Pubs id:
-
pubs:984445
- UUID:
-
uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1b
- Local pid:
- pubs:984445
- Source identifiers:
-
984445
- Deposit date:
- 2019-03-26
Terms of use
- Copyright date:
- 2019
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from the American Association for the Advancement of Science at: 10.1126/science.aau6520
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