September 22, 2019  |  

Biparental Inheritance of Mitochondrial DNA in Humans.

Authors: Luo, Shiyu and Valencia, C Alexander and Zhang, Jinglan and Lee, Ni-Chung and Slone, Jesse and Gui, Baoheng and Wang, Xinjian and Li, Zhuo and Dell, Sarah and Brown, Jenice and Chen, Stella Maris and Chien, Yin-Hsiu and Hwu, Wuh-Liang and Fan, Pi-Chuan and Wong, Lee-Jun and Atwal, Paldeep S and Huang, Taosheng

Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing analysis in our research laboratory and in two Clinical Laboratory Improvement Amendments and College of American Pathologists-accredited laboratories using multiple approaches. A comprehensive exploration of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominantlike inheritance mode. Our results suggest that, although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring. Elucidating the molecular mechanism for this unusual mode of inheritance will provide new insights into how mtDNA is passed on from parent to offspring and may even lead to the development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission.

Journal: Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1810946115
Year: 2018

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