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Transmission of the human mitochondrial genome

Lookup NU author(s): Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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The segregation and transmission of mitochondrial genomes in humans are complicated processes, but are particularly important for understanding the heritance 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 th at 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.

Publication metadata

Author(s): Chinnery PF; Turnbull DM; Howell N; Ghosh SS; Fahy E; Jansen R

Publication type: Article

Publication status: Published

Journal: Human Reproduction

Year: 2000

Volume: 15

Issue: 2

Pages: 235-245

Print publication date: 01/01/2000

ISSN (print): 0268-1161

ISSN (electronic): 1460-2350

Publisher: Oxford University Press


DOI: 10.1093/humrep/15.suppl_2.235

PubMed id: 11041529


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