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Originally published as Genetics Published Articles Ahead of Print on June 8, 2005.
Genetics, Vol. 170, 1879-1885, August 2005, Copyright © 2005
doi:10.1534/genetics.105.043653
Systematic Segregation to Mutant Mitochondrial DNA and Accompanying Loss of Mitochondrial DNA in Human NT2 Teratocarcinoma Cybrids
Carrie J. Turner*,
Caroline Granycome*,
Rachel Hurst*,1,
Elizabeth Pohler
,
M. Katariina Juhola
,
Martti I. Juhola,
Howard T. Jacobs,
Lesley Sutherland and
Ian J. Holt*,2
* MRC Dunn Human Nutrition Unit, Wellcome Trust, Cambridge CB2 2XY, United Kingdom
Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee DD1 9SY, United Kingdom
Institute of Medical Technology and Tampere University Hospital, University of Tampere, FI-33014 Tampere, Finland
2 Corresponding author: MRC-Dunn Human Nutrition Unit, Wellcome Trust/MRC Bldg., Hills Rd., Cambridge CB2 2XY, United Kingdom.
E-mail: holt{at}mrc-dunn.cam.ac.uk
In this study a well-characterized pathological mutation at nucleotide position 3243 of human mitochondrial DNA was introduced into human 
0 teratocarcinoma (NT2) cells. In cloned and mixed populations of NT2 cells heteroplasmic for the mutation, mitotic segregation toward increasing levels of mutant mitochondrial DNA always occurred. Rapid segregation was frequently followed by complete loss of mitochondrial DNA. These findings support the idea that pathological mitochondrial DNA mutations are particularly deleterious in specific cell types, which can explain some of the tissue-specific aspects of mitochondrial DNA diseases. Moreover, these findings suggest that mitochondrial DNA depletion may be an important and widespread feature of mitochondrial DNA disease.
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