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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.
Author(s): Chinnery PF; Turnbull DM; Howell N; Ghosh SS; Fahy E; Jansen R
Publication type: Article
Publication status: Published
Journal: Human Reproduction
Print publication date: 01/01/2000
ISSN (print): 0268-1161
ISSN (electronic): 1460-2350
Publisher: Oxford University Press
PubMed id: 11041529
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