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High throughput detection of mtDNA mutations leading to tRNA processing errors

Lookup NU author(s): Dr Jim StewartORCiD



This is the authors' accepted manuscript of a book chapter that has been published in its final definitive form by Humana, 2021.

For re-use rights please refer to the publisher's terms and conditions.


Some mutations in the tRNA genes of mitochondrial DNA (mtDNA) have been demonstrated to affect the processing of the mitochondrial transcriptome in human patients with mitochondrial disease. A recent analysis of mtDNA mutations in 527 human tumors revealed that approximately a quarter of the somatic mt-tRNA gene mutations lead to aberrant processing of the mitochondrial transcriptome in these tumors. Here, we describe a method, based on mtDNA mutations induced by the mtDNA mutator mouse, to map the sites that lead to transcript processing abnormalities. Mutations in the mtDNA are identified and quantified by amplicon-based mtDNA sequencing, and compared to the allelic ratios observed in matched RNASeq data. Strong deviation in the variant allele frequencies between the amplicon and RNASeq data suggests that such mutations lead to disruptions in mitochondrial transcript processing.

Publication metadata

Author(s): Isokallio MA, Stewart JB

Editor(s): Minczuk, M; Rorbach, J

Publication type: Book Chapter

Publication status: Published

Book Title: Mitochondrial Gene Expression: Methods and Protocols

Year: 2021

Volume: 2129

Pages: 117-132

Online publication date: 24/11/2020

Acceptance date: 15/04/2019

Series Title: Methods in Molecular Biology

Publisher: Humana

Place Published: New York


DOI: 10.1007/978-1-0716-0834-0_10

Library holdings: Search Newcastle University Library for this item

ISBN: 9781071608333