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The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection or both?

Lookup NU author(s): Professor Patrick Chinnery, Dr David Samuels, Emeritus Professor Doug Turnbull, Professor Robert Lightowlers


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The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are usually heteroplasmic, with a mixture of mutant and wild-type mtDNA within the same organism. A woman harbouring one of these mutations transmits a variable amount of mutant mtDNA to each offspring. This can result in a healthy child or an infant with a devastating and fatal neurological disorder. Understanding the biological basis of this uncertainty is one of the principal challenges facing scientists and clinicians in the field of mitochondrial genetics. Copyright (C) 2000 Elsevier Science Ltd.

Publication metadata

Author(s): Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl H-HM, Turnbull DM, Lightowlers RN, Howell N

Publication type: Article

Publication status: Published

Journal: Trends in Genetics

Year: 2000

Volume: 16

Issue: 11

Pages: 500-505

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555

Publisher: Elsevier


DOI: 10.1016/S0168-9525(00)02120-X

PubMed id: 11074292


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