High-Throughput Detection of mtDNA Mutations Leading to tRNA Processing Errors

Isokallio, M. A.; Stewart, J.

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

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

High-Throughput Detection of mtDNA Mutations Leading to tRNA Processing Errors

MPS-Authors

/persons/resource/persons129358

Stewart, J.
Stewart – Mitochondrial Mutations and Genome Co-evolution, Research Groups, Max Planck Institute for Biology of Ageing, Max Planck Society;

External Resource

https://www.ncbi.nlm.nih.gov/pubmed/33230770
(Any fulltext)

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Isokallio, M. A., & Stewart, J. (2021). High-Throughput Detection of mtDNA Mutations Leading to tRNA Processing Errors. Methods Mol Biol, 2192, 117-132. doi:10.1007/978-1-0716-0834-0_10.

Cite as: https://hdl.handle.net/21.11116/0000-000A-FAB6-F

Abstract

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.