ePrints

Two direct repeats cause most human mtDNA deletions

Lookup NU author(s): Professor David Samuels, Professor Patrick Chinnery

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Mitochondrial DNA (mtDNA) deletions are a common cause of human mitochondrial disease and also occur as part of normal aging. However, it is unknown how the deletions actually occur. To gain further insight, we studied the sequences that flank 263 different human mtDNA deletions. The distribution of deletion breakpoints did not correspond to the basic parameters of wild-type mtDNA that are thought to predispose to deletion formation. But there was a striking correspondence to the position of two 13-bp direct repeats beginning at nucleotides 8470 and 13447. The vast majority of different mtDNA deletions appear to be related to these two repeats, suggesting a common mechanism related to mtDNA replication.

Publication metadata

Author(s): Samuels DC, Schon EA, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Trends in Genetics

Year: 2004

Volume: 20

Issue: 9

Pages: 393-398

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.tig.2004.07.003

DOI: 10.1016/j.tig.2004.07.003

Altmetrics

Funding

Share