Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families:support for a variable-size bottleneck
Although previous studies have documented a bottleneck in the transmission of mtDNA genomes from mothers to offspring, several aspects remain unclear, including the size and nature of the bottleneck. Here, we analyze the dynamics of mtDNA heteroplasmy transmission in the Genomes of the Netherlands (GoNL) data, which consists of complete mtDNA genome sequences from 228 trios, eight dizygotic (DZ) twin quartets, and 10 monozygotic (MZ) twin quartets. Using a minor allele frequency (MAF) threshold of 2%, we identified 189 heteroplasmies in the trio mothers, of which 59% were transmitted to offspr... Mehr ...
Verfasser: |
Li, Mingkun
Rothwell, Rebecca
Vermaat, Martijn
Wachsmuth, Manja
Schroeder, Roland
Laros, Jeroen F. J.
van Oven, Mannis
de Bakker, Paul I. W.
Bovenberg, Jasper A.
van Duijn, Cornelia M.
van Ommen, Gert-Jan B.
Slagboom, P. Eline
Swertz, Morris A.
Wijmenga, Cisca
Kayser, Manfred
Boomsma, Dorret I.
Zoellner, Sebastian
de Knijff, Peter
Stoneking, Mark |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2016 |
Reihe/Periodikum: |
Li , M , Rothwell , R , Vermaat , M , Wachsmuth , M , Schroeder , R , Laros , J F J , van Oven , M , de Bakker , P I W , Bovenberg , J A , van Duijn , C M , van Ommen , G-J B , Slagboom , P E , Swertz , M A , Wijmenga , C , Kayser , M , Boomsma , D I , Zoellner , S , de Knijff , P , Stoneking , M & Genome Netherlands Consortium 2016 , ' Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families : support for a variable-size bottleneck ' , Genome Research , vol. 26 , no. 4 , pp. 417-426 . https://doi.org/10.1101/gr.203216.115 |
Schlagwörter: |
MITOCHONDRIAL-DNA MUTATIONS
/ RANDOM GENETIC DRIFT
/ PURIFYING SELECTION
/ POINT MUTATIONS
/ MELAS SYNDROME
/ HUMAN-DISEASE
/ TISSUES
/ INHERITANCE
/ OOCYTES
/ LEVEL |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26824829 |
Datenquelle: |
BASE;
Originalkatalog |
Powered By: |
BASE |
Link(s) :
|
https://hdl.handle.net/11370/27e52353-a5fa-4613-9084-343b24dd2e9e |