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

Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl HM, Turnbull DM, Lightowlers RN, Howell N
Trends Genet. 2000 16 (11): 500-5

PMID: 11074292 · DOI:10.1016/s0168-9525(00)02120-x

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.

MeSH Terms (10)

Animals DNA, Mitochondrial Female Gene Frequency Humans Mice Mutation Polymorphism, Genetic Selection, Genetic Species Specificity

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