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Research: Chimeric mitochondrial RNA transcripts predict mitochondrial genome deletion mutations in mitochondrial genetic diseases and aging
- Amy R. Vandiver,
- Allen Herbst,
- Paul Stothard,
- and Jonathan Wanagat
Genome Res. January 2025 35: 55-65; Published in Advance November 27, 2024, doi:10.1101/gr.279072.124
..., Golovko G, Rojas M, Pavlidis I, Chumakov S, Aguilar G, Chávez A, Widger WR, et al. 2016. The ability of human nuclear DNA to cause false positive low-abundance heteroplasmy calls varies across the mitochondrial . BMC Genomics 17: 1017. doi:10.1186/s12864-016-3375-x ↵Barends M, Verschuren L, Morava E...
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Research: Hybridization drives mitochondrial DNA degeneration and metabolic shift in a species with biparental mitochondrial inheritance
- Mathieu Hénault,
- Souhir Marsit,
- Guillaume Charron,
- and Christian R. Landry
Genome Res. November/December 2022 32: 2043-2056; Published in Advance November 9, 2022, doi:10.1101/gr.276885.122
...author: mathieu.henault.1@ulaval.caAbstractMitochondrial DNA (mtDNA) is a cytoplasmic that is essential for respiratory metabolism. Although uniparental mtDNA inheritance is most common in animals and plants, distinct mtDNA haplotypes can coexist in a state of heteroplasmy, either because of paternal...
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Resource: Mitochondrial DNA variation across 56,434 individuals in gnomAD
- Kristen M. Laricchia,
- Nicole J. Lake,
- Nicholas A. Watts,
- Megan Shand,
- Andrea Haessly,
- Laura Gauthier,
- David Benjamin,
- Eric Banks,
- Jose Soto,
- Kiran Garimella,
- James Emery,
- Genome Aggregation Database Consortium,
- Heidi L. Rehm,
- Daniel G. MacArthur,
- Grace Tiao,
- Monkol Lek,
- Vamsi K. Mootha,
- and Sarah E. Calvo
Genome Res. March 2022 32: 569-582; Published in Advance January 24, 2022, doi:10.1101/gr.276013.121
...variant with heteroplasmy above 10%. These mtDNA population allele frequencies are freely accessible and will aid in diagnostic interpretation and research studies.The genetic material of human cells is contained in the nucleus and mitochondria. The mitochondrial (mtDNA) is a circular molecule of 16...
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Review: A systematic review on the biochemical threshold of mitochondrial genetic variants
- Karan K. Smith,
- Jesse D. Moreira,
- Callum R. Wilson,
- June O. Padera,
- Ashlee N. Lamason,
- Liying Xue,
- Deepa M. Gopal,
- David B. Flynn,
- and Jessica L. Fetterman
Genome Res. March 2024 34: 341-365; Published in Advance April 16, 2024, doi:10.1101/gr.278200.123
...in sequence (homoplasmy), or some mtDNA copies may contain different alleles at the same position, a condition called heteroplasmy. Emerging studies indicate that mitochondrial heteroplasmy is more prevalent than previously appreciated, and it is likely that most of the population carries heteroplasmic mtDNA...
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Method: Contamination detection in sequencing studies using the mitochondrial phylogeny
- Hansi Weissensteiner,
- Lukas Forer,
- Liane Fendt,
- Azin Kheirkhah,
- Antonio Salas,
- Florian Kronenberg,
- and Sebastian Schoenherr
Genome Res. February 2021 31: 309-316; Published in Advance January 15, 2021, doi:10.1101/gr.256545.119
.... The strict maternal inheritance of mtDNA results in a natural grouping of haplotypes into monophyletic clusters, referred to as haplogroups (Kivisild et al. 2006; Kloss-Brandstätter et al. 2011). Furthermore, second-generation sequencing enables the detection of heteroplasmy over the complete mitochondrial...
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Method: Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution
- Ryan O'Hara,
- Enzo Tedone,
- Andrew Ludlow,
- Ejun Huang,
- Beatrice Arosio,
- Daniela Mari,
- and Jerry W. Shay
Genome Res. November 2019 29: 1878-1888; Published in Advance September 23, 2019, doi:10.1101/gr.250480.119
..., metabolic regulation, apoptosis, calcium homeostasis, cell proliferation, and motility, as well as free radical generation. Mitochondrial DNA (mtDNA) is present at hundreds to thousands of copies per cell in a tissue-specific manner. mtDNA copy number also varies during aging and disease progression...
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Research: Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease
- Stephanie Y. Yang,
- Christina A. Castellani,
- Ryan J. Longchamps,
- Vamsee K. Pillalamarri,
- Brian O'Rourke,
- Eliseo Guallar,
- and Dan E. Arking
Genome Res. March 2021 31: 349-358; Published in Advance January 13, 2021, doi:10.1101/gr.269381.120
...Corresponding author: arking@jhmi.eduAbstractMitochondrial DNA copy number (mtDNA-CN) is a proxy for mitochondrial function and is associated with aging-related diseases. However, it is unclear how mtDNA-CN measured in blood can reflect diseases that primarily manifest in other tissues. Using the Genotype...
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Research: Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck
- Mingkun Li,
- Rebecca Rothwell,
- Martijn Vermaat,
- Manja Wachsmuth,
- Roland Schröder,
- Jeroen F.J. Laros,
- Mannis van Oven,
- Paul I.W. de Bakker,
- Jasper A. Bovenberg,
- Cornelia M. van Duijn,
- Gert-Jan B. van Ommen,
- P. Eline Slagboom,
- Morris A. Swertz,
- Cisca Wijmenga,
- Genome of the Netherlands Consortium,
- Manfred Kayser,
- Dorret I. Boomsma,
- Sebastian Zöllner,
- Peter de Knijff,
- and Mark Stoneking
Genome Res. April 2016 26: 417-426; Published in Advance February 25, 2016, doi:10.1101/gr.203216.115
...that the female germ line is able to recognize and select against deleterious heteroplasmies. [Supplemental material is available for this article.] Heteroplasmy (intra-individual variation) in mitochondrial DNA (mtDNA) plays an important role in mtDNA-related diseases and has also been implicated in aging...
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Research: RNA–DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNA
- Dan Bar-Yaacov,
- Gal Avital,
- Liron Levin,
- Allison L. Richards,
- Naomi Hachen,
- Boris Rebolledo Jaramillo,
- Anton Nekrutenko,
- Raz Zarivach,
- and Dan Mishmar
Genome Res. November 2013 23: 1789-1796; Published in Advance August 2, 2013, doi:10.1101/gr.161265.113
.... Nature 497: 80–85. Avital G, Buchshtav M, Zhidkov I, Tuval Feder J, Dadon S, Rubin E, Glass D, Spector TD, Mishmar D. 2012. Mitochondrial DNA heteroplasmy in diabetes and normal adults: Role of acquired and inherited mutational patterns in twins. Hum Mol Genet 21: 4214–4224. Ben-Shem A, Garreau de...
ARTICLE: PCR-mediated detection of heteroplasmy in maize mitochondrial mutants.
- J R Marienfeld,
- J Gu,
- and K J Newton
Genome Res. December 1993 3: 205-207
...quantitation of HIV DNA and RNA species. BioTechniques 14 : 70 – 80 . PCR-mediated Detection of Heteroplasmy in Maize Mitochondrial Mutants Joachim R. Marienfeld, Jianying Gu, and Kathleen J. Newton Division of Biological Sciences, College of Arts and Sciences, University of Missouri-Columbia, Columbia...
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