https://scholars.lib.ntu.edu.tw/handle/123456789/525088
標題: | Biparental inheritance of mitochondrial DNA in humans | 作者: | Luo S. Valencia C.A. Zhang J. NI-CHUNG LEE Slone J. Gui B. Wang X. Li Z. Dell S. Brown J. Chen S.M. YIN-HSIU CHIEN WUH-LIANG HWU PI-CHUAN FAN Wong L.-J. Atwal P.S. Huang T. |
公開日期: | 2018 | 出版社: | National Academy of Sciences | 卷: | 115 | 期: | 51 | 起(迄)頁: | 13039-13044 | 來源出版物: | Proceedings of the National Academy of Sciences of the United States of America | 摘要: | 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. ? 2018 National Academy of Sciences. All Rights Reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85058706363&doi=10.1073%2fpnas.1810946115&partnerID=40&md5=e803ef3344cd1d5a7fa16cef04c3d5b9 https://scholars.lib.ntu.edu.tw/handle/123456789/525088 |
ISSN: | 0027-8424 | DOI: | 10.1073/pnas.1810946115 | SDG/關鍵字: | mitochondrial DNA; mitochondrial DNA; adult; Article; autosomal dominant inheritance; autosomal recessive inheritance; child; clinical article; controlled study; DNA sequence; female; gene segregation; heteroplasmy; human; human cell; human tissue; male; maternal inheritance; middle aged; molecular mechanics; paternal inheritance; pathogenicity; preschool child; priority journal; progeny; disorders of mitochondrial functions; genetic database; genetics; inheritance; mitochondrial gene; mitochondrial genome; mitochondrion; pedigree; Adult; Child, Preschool; Databases, Genetic; DNA, Mitochondrial; Female; Genes, Mitochondrial; Genome, Mitochondrial; Humans; Inheritance Patterns; Male; Maternal Inheritance; Middle Aged; Mitochondria; Mitochondrial Diseases; Paternal Inheritance; Pedigree |
顯示於: | 醫學系 |
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