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Human Reproduction, Vol. 15, No. suppl_2, pp. 235-245, 2000
© 2000 European Society of Human Reproduction and Embryology

Transmission of the human mitochondrial genome

Neil Howell1,4, P.F. Chinnery2, S.S. Ghosh3, E. Fahy3 and D.M. Turnbull2

1 Department of Radiation Oncology and Department of Human Biological Chemistry & Genetics, The University of Texas Medical Branch Galveston, TX, USA 2 Department of Neurology, The University of Newcastle upon Tyne Newcastle upon Tyne, UK 3 MitoKor San Diego, CA, USA

Correspondence: 4To whom correspondence should be addressed at: Biology Division 0656, Room 3.348, Gail Borden Building, Department of Radiation Oncology, The University of Texas Medical Branch, Galveston, TX 77555–0656, USA. E-mail: nhowell{at}utmb.edu

The segregation and transmission of mitochondrial genomes in humans are complicated processes, but are particularly important for understanding the inheritance and clinical abnormalities of mitochondrial disorders. This review describes three aspects of mitochondrial genetics. First, that the segregation and transmission of mitochondrial (mt)DNA molecules are likely to be determined by their physical association within the organelles and by the dynamics of mitochondrial structure and subcellular organization. Second, that the transmission of heteroplasmic mtDNA sequence changes from one generation to the next often involves rapid shifts in allele frequency. For >20 years, the standard explanation has been that there is a developmental bottleneck in which, at some stage of oogenesis, there is a reduction in the effective number of mitochondrial units of inheritance. The third aspect is that ongoing analyses of the segregation and transmission of pathogenic mtDNA mutations indicate the operation of multiple genetic processes. Thus, the segregation and transmission of mtDNA mutations occurs predominantly, but not exclusively, under conditions of random genetic drift. However, there is also evidence for bias due to incomplete ascertainment of pedigrees and for negative selection of pathogenic mutations in rapidly dividing somatic tissues such as the white blood cell population.

Key words: mitochondrial bottleneck/mitochondrial disease/mitochondrial DNA/mtDNA heteroplasmy/mtDNA mutations


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