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American Association for the Advancement of Science, Science, 6442(364), 2019

DOI: 10.1126/science.aau6520

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Germline selection shapes human mitochondrial DNA diversity

Journal article published in 2019 by Katherine R. Smith, Wei Wei, Salih Tuna, Michael J. Keogh, Timothy J. Aitman, Phil L. Beales, Kenneth G. C. Smith, David L. Bennett, Graeme C. Black, Daniel P. Gale, Henry Houlden, Austen Worth, Melita Irving, Paul Brennan, Brian T. Wilson and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Data provided by SHERPA/RoMEO

Abstract

Heteroplasmy incidence in mitochondrial DNA In humans, mitochondrial DNA (mtDNA) is predominantly maternally inherited. mtDNA is under selection to prevent heteroplasmy—the transmission of multiple genetic variants into the next generation. Wei et al. explored human mtDNA sequences to determine mtDNA genome structure, selection, and transmission. Whole-genome sequencing revealed that about 45% of individuals carry heteroplasmic mtDNA sequences at levels greater than 1% of their total mtDNA. Furthermore, studies of more than 1500 mother-offspring pairs indicated that the female line selected which mtDNA variants were passed on to children. This effect was influenced by the mother's nuclear genetic background. Thus, mtDNA is under selection at specific loci in the human germ line. Science , this issue p. eaau6520