Mapping and editing animal mitochondrial genomes: can we overcome the challenges?
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Publication Date
2020-01Journal Title
Philosophical transactions of the Royal Society of London. Series B, Biological sciences
ISSN
0962-8436
Publisher
The Royal Society
Volume
375
Issue
1790
Pages
20190187
Language
eng
Type
Article
This Version
AM
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Klucnika, A., & Ma, H. (2020). Mapping and editing animal mitochondrial genomes: can we overcome the challenges?. Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 375 (1790), 20190187. https://doi.org/10.1098/rstb.2019.0187
Abstract
The animal mitochondrial genome, although small, can have a big impact on health and disease. Non-pathogenic sequence variation among mitochondrial DNA (mtDNA) haplotypes influences traits including fertility, healthspan and longevity, whereas pathogenic mutations are linked to incurable mitochondrial diseases and other complex conditions like ageing, diabetes, cancer and neurodegeneration. However, we know very little about how mtDNA genetic variation contributes to phenotypic differences. A low frequency of recombination, the multicopy nature and nucleic acid-impenetrable membranes present significant challenges that hamper our ability to precisely map mtDNA variants responsible for traits, and to genetically modify mtDNA so that we can isolate specific mutants and characterise their biochemical and physiological consequences. Here, we summarise the past struggles and efforts in developing systems to map and edit mtDNA. We also assess the future of performing forward and reverse genetic studies on animal mitochondrial genomes.
Keywords
Mitochondria, Animals, Humans, DNA, Mitochondrial, Chromosome Mapping, Genome, Mitochondrial, Gene Editing
Sponsorship
This work is funded by Wellcome Trust grant 203767/Z/16/Z to AK and 202269/Z/16/Z to HM.
Funder references
Wellcome Trust (202269/Z/16/Z)
WELLCOME TRUST (203767/Z/16/Z)
Identifiers
External DOI: https://doi.org/10.1098/rstb.2019.0187
This record's URL: https://www.repository.cam.ac.uk/handle/1810/297873
Rights
All rights reserved