Nuclear genetic control of mitochondrial DNA segregation

2003 ◽  
Vol 33 (2) ◽  
pp. 183-186 ◽  
Author(s):  
Brendan J. Battersby ◽  
J.C. Loredo-Osti ◽  
Eric A. Shoubridge
2015 ◽  
Vol 25 (4) ◽  
pp. 706-714 ◽  
Author(s):  
Riikka Jokinen ◽  
Paula Marttinen ◽  
James B. Stewart ◽  
T. Neil Dear ◽  
Brendan J. Battersby

2016 ◽  
Vol 113 (30) ◽  
pp. E4276-E4285 ◽  
Author(s):  
Gokhan Akman ◽  
Radha Desai ◽  
Laura J. Bailey ◽  
Takehiro Yasukawa ◽  
Ilaria Dalla Rosa ◽  
...  

The genetic information in mammalian mitochondrial DNA is densely packed; there are no introns and only one sizeable noncoding, or control, region containing key cis-elements for its replication and expression. Many molecules of mitochondrial DNA bear a third strand of DNA, known as “7S DNA,” which forms a displacement (D-) loop in the control region. Here we show that many other molecules contain RNA as a third strand. The RNA of these R-loops maps to the control region of the mitochondrial DNA and is complementary to 7S DNA. Ribonuclease H1 is essential for mitochondrial DNA replication; it degrades RNA hybridized to DNA, so the R-loop is a potential substrate. In cells with a pathological variant of ribonuclease H1 associated with mitochondrial disease, R-loops are of low abundance, and there is mitochondrial DNA aggregation. These findings implicate ribonuclease H1 and RNA in the physical segregation of mitochondrial DNA, perturbation of which represents a previously unidentified disease mechanism.


2005 ◽  
Vol 14 (17) ◽  
pp. 2587-2594 ◽  
Author(s):  
Brendan J. Battersby ◽  
Margaret E. Redpath ◽  
Eric A. Shoubridge

2012 ◽  
Vol 45 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Riikka Jokinen ◽  
Brendan J. Battersby

PLoS Genetics ◽  
2010 ◽  
Vol 6 (10) ◽  
pp. e1001161 ◽  
Author(s):  
Riikka Jokinen ◽  
Paula Marttinen ◽  
Helen Katarin Sandell ◽  
Tuula Manninen ◽  
Heli Teerenhovi ◽  
...  

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