scholarly journals Sharing of heteroplasmies between human liver lobes varies across the mtDNA genome

2017 ◽  
Author(s):  
Alexander Hübner ◽  
Manja Wachsmuth ◽  
Roland Schröder ◽  
Mingkun Li ◽  
Anna Maria Eis-Hübinger ◽  
...  

ABSTRACTMitochondrial DNA (mtDNA) heteroplasmy (intra-individual variation) varies among different human tissues and increases with age, suggesting that the majority of mtDNA heteroplasmies are acquired, rather than inherited. However, the extent to which heteroplasmic sites are shared across a tissue remains an open question. We therefore investigated heteroplasmy in two liver samples (one from each primary lobe) from 83 Europeans, sampled at autopsy. Minor allele frequencies (MAF) at heteroplasmic sites were significantly correlated between the two liver samples from an individual, with significantly more sharing of heteroplasmic sites in the control region than in the coding region. We show that this increased sharing for the control region cannot be explained by recent mutations at just a few specific heteroplasmic sites or by the possible presence of 7S DNA. Moreover, we carried out simulations to show that there is significantly more sharing than would be predicted from random genetic drift from a common progenitor cell. We also observe a significant excess of non-synonymous vs. synonymous heteroplasmies in the coding region, but significantly more sharing of synonymous heteroplasmies. These contrasting patterns for the control vs. the coding region, and for non-synonymous vs. synonymous heteroplasmies, suggest that selection plays a role in heteroplasmy sharing.

Genetics ◽  
1992 ◽  
Vol 132 (1) ◽  
pp. 205-209 ◽  
Author(s):  
S Kambhampati ◽  
K S Rai ◽  
D M Verleye

Abstract A laboratory cage experiment was undertaken to study changes over time in the frequencies of two mitochondrial DNA (mtDNA) haplotypes in the mosquito, Aedes albopictus, under two conditions: bidirectionally compatible matings and unidirectionally incompatible matings. Frequencies were monitored for 10 generations in three replicate cages for each of the two conditions above. In cages with bidirectionally compatible strains, changes in haplotype frequencies were nondirectional and neither haplotype increased in frequency. Statistical analysis of relative proportions of the two haplotypes in each generation indicated that the magnitude of the observed fluctuations could be expected under an assumption of random genetic drift alone. In cages with unidirectionally incompatible matings, mtDNA of females that lay inviable eggs upon mating with males of another strain, decreased significantly in the F1 generation and was completely replaced in the F2 generation.


2018 ◽  
Vol 18 (1) ◽  
pp. 3-15 ◽  
Author(s):  
Joanna Warzecha ◽  
Agnieszka Fornal ◽  
Maria Oczkowicz ◽  
Monika Bugno-Poniewierska

Abstract Mitochondrial DNA (mtDNA) is a molecular tool that is very effective in genetic research, including phylogenetic analysis. The non-coding region is the most variable fragment of mtDNA, showing variability in length and nucleobase composition and containing three domains: two hypervariable peripheral regions and the conserved domain (D-loop) in the middle. The Anseriformes are amongst the best studied avian groups, including approximately 150 species and containing geese, swans, ducks (Anatidae), the Magpie goose (Anseranatidae) and screamers (Anhimidae). The most numerous family is the Anatidae, appearing in close relationships within the phylogenetic branches of the species. There are differences between the non-coding region of the Anatidae in comparison to other avian control regions. In the article presented below the control region sequences and the phylogeny of the Anatidae were reviewed.


2008 ◽  
Vol 83 (5) ◽  
pp. 582-593 ◽  
Author(s):  
Passorn Wonnapinij ◽  
Patrick F. Chinnery ◽  
David C. Samuels

2005 ◽  
Vol 50 (2) ◽  
pp. 1-9 ◽  
Author(s):  
Margaret C. Kline ◽  
Peter M. Vallone ◽  
Janette W. Redman ◽  
David L. Duewer ◽  
Cassandra D. Calloway ◽  
...  

1996 ◽  
Vol 14 (2) ◽  
pp. 146-151 ◽  
Author(s):  
Jack P. Jenuth ◽  
Alan C. Peterson ◽  
Katherine Fu ◽  
Eric A. Shoubridge

2019 ◽  
Vol 46 (7-8) ◽  
pp. 606-609 ◽  
Author(s):  
Cuiyun Le ◽  
Zheng Ren ◽  
Hongling Zhang ◽  
Qiyan Wang ◽  
Meiqing Yang ◽  
...  

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