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Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain
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The mutation m.3751insC in MT-ND1 introduces an additional C into a homopolymeric cytosine stretch, resulting in a premature stop codon (p.Leu89Profs*13) and truncation of the 318 amino acid protein product to 100 residues.
“This mutation introduces an additional C into a homopolymeric cytosine stretch in the first third of MT-ND1 (m.3751insC), resulting in a premature stop codon (p.Leu89Profs*13) and truncation of the 318 amino acid protein product to 100 residues”
From Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes (2020) · cites this paper as [79]
The ND1m cells were previously shown to be homoplasmic and were confirmed to be >99.9% homoplasmic by ARMS qPCR and Sanger sequencing.
“The ND1m cells were previously shown to be homoplasmic [79] and within our experimental limitations we were able to confirm that these cells were >99.9% homoplasmic by ARMS qPCR (Supplementary Table S4) and Sanger sequencing (Supplementary Fig. S3).”
From Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes (2020) · cites this paper as [79]
Cells with the m.3751insC mutation are functionally null for the ND1 protein.
“Cells with this mutation are functionally null for the ND1 protein.”
From Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes (2020) · cites this paper as [79]
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Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes
Lewis, C. J., Dixit, B., Batiuk, E., Hall, C. J., O'Connor, M. S., & Boominathan, A. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101429 · Cited by 20
Metadata
- Authors
- McKenzie, M., Chiotis, M., Hroudová, J., Lopez Sanchez, M. I. G., Lim, S. C., Cook, M. J., McKelvie, P., Cotton, R. G. H., Murphy, M., St John, J. C., & Trounce, I. A.
- Affiliations
- Centre for Genetic Diseases; MIMR-PHI Institute of Medical Research, Monash University; Clayton Victoria 3168 Australia
- Department of Clinical Neurosciences; St. Vincent's Hospital; Department of Medicine, University of Melbourne; Fitzroy Victoria 3065 Australia
- Centre for Eye Research Australia; Royal Victorian Eye and Ear Hospital, University of Melbourne; Victoria 3002 Australia
- Department of Pathology; St. Vincent's Hospital; Department of Medicine, University of Melbourne; Fitzroy Victoria 3065 Australia
- Genomic Disorders Research Centre; Florey Neuroscience Institutes, University of Melbourne; Victoria 3010 Australia
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2014-11-24
- Volume
- 35
- Issue
- 12
- Pages
- 1476-1484
- ISSN
- 1059-7794
- Cited by
- 12
- References
- 5
- Language
- en
- Funders
- Poxon Neurosurgical Foundation; the Australian National Health and Medical Research Council (APP1061472)
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