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Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'

Lookup NU author(s): Emeritus Professor Doug Turnbull


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Perfect direct repeats and, in particular, the prominent 13 bp repeat, are thought to cause mitochondrial DNA (mtDNA) deletions, which have been associated with the aging process. Accordingly, individuals lacking the 13 bp repeat are highly prevalent among centenarians and overall number of perfect repeats in mammalian mitochondrial genomes negatively correlates with species' longevity. However, detailed examination of the distribution of mtDNA deletions challenges a special role of the 13 bp repeat in generating mtDNA deletions. Instead, deletions appear to depend on long and stable, albeit imperfect, duplexes between distant mtDNA segments. Furthermore, significant dissimilarities in breakpoint distributions suggest that multiple mechanisms are involved in creating mtDNA deletions.

Publication metadata

Author(s): Guo XH, Popadin KY, Markuzon N, Orlov YL, Kraytsberg Y, Krishnan KJ, Zsurka G, Turnbull DM, Kunz WS, Khrapko K

Publication type: Article

Publication status: Published

Journal: Trends in Genetics

Year: 2010

Volume: 26

Issue: 8

Pages: 340-343

Print publication date: 01/08/2010

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555

Publisher: Elsevier


DOI: 10.1016/j.tig.2010.05.006


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Funder referenceFunder name
Biotechnology and Biological Sciences Research Council
China Scholarship Council
Engineering and Physical Sciences Research Council
Wellbeing Initiative
Economic and Social Research Council
Medical Research Council
Russian Science Support Foundation
08-04-01651-Russian Foundation for Basic Research
10-04-00276-Russian Foundation for Basic Research
AG019787National Institutes of Health
NS058988National Institutes of Health
MK-5423.2008.4President of the Russian Federation
P2442Russian Ministry of Science and Education
SFB TR3Deutsche Forschungsgemeinschaft