Imperial College London
Alternate

Nick S Jones

Faculty of Natural Sciences, Department of Mathematics

Professor of Mathematical Sciences
 
 
 
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Contact

 

+44 (0)20 7594 1146nick.jones

 
 
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Location

 

301aSir Ernst Chain BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@article{Burgstaller:2019:10.1038/s41467-018-04797-2,
author = {Burgstaller, J and Kolbe, T and Havlicek, V and Hembach, S and Poulton, J and Piálek, J and Steinborn, R and Rulicke, T and Brem, G and Jones, NS and Johnston, I},
doi = {10.1038/s41467-018-04797-2},
journal = {Nature Communications},
title = {Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations},
url = {http://dx.doi.org/10.1038/s41467-018-04797-2},
volume = {9},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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 generations in two genetically distinct mouse models. We provide a novel and detailed quantitative characterisation of the linear increase in heteroplasmy variance throughout mammalian life courses in oocytes and pups. We find that differences in mean heteroplasmy are induced between generations, and the heteroplasmy of germline and somatic precursors diverge early in development, with a haplotype-specific direction of segregation. We develop stochastic theory predicting the implications of these dynamics for ageing and disease manifestation and discuss its application to human mtDNA dynamics.
AU  - Burgstaller,J
AU  - Kolbe,T
AU  - Havlicek,V
AU  - Hembach,S
AU  - Poulton,J
AU  - Piálek,J
AU  - Steinborn,R
AU  - Rulicke,T
AU  - Brem,G
AU  - Jones,NS
AU  - Johnston,I
DO  - 10.1038/s41467-018-04797-2
PY  - 2019///
SN  - 2041-1723
TI  - Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-018-04797-2
UR  - http://hdl.handle.net/10044/1/60255
VL  - 9
ER  -
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