Dataset Information

Biparental Inheritance of Mitochondrial DNA in Humans.

ABSTRACT: 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.

SUBMITTER: Luo S

PROVIDER: S-EPMC6304937 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Biparental Inheritance of Mitochondrial DNA in Humans.

Luo Shiyu S Valencia C Alexander CA Zhang Jinglan J Lee Ni-Chung NC Slone Jesse J Gui Baoheng B Wang Xinjian X Li Zhuo Z Dell Sarah S Brown Jenice J Chen Stella Maris SM Chien Yin-Hsiu YH Hwu Wuh-Liang WL Fan Pi-Chuan PC Wong Lee-Jun LJ Atwal Paldeep S PS Huang Taosheng T

Proceedings of the National Academy of Sciences of the United States of America 20181126 51

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 an ...[more]

PMID: 30478036

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Dataset Information

Biparental Inheritance of Mitochondrial DNA in Humans.

Publications

Biparental Inheritance of Mitochondrial DNA in Humans.

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