- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Journal of Biomedicine and Biotechnology
Volume 2012 (2012), Article ID 541245, 7 pages
Nuclear Expression of a Mitochondrial DNA Gene: Mitochondrial Targeting of Allotopically Expressed Mutant ATP6 in Transgenic Mice
Department of Pathobiology, College of Veterinary Medicine, Auburn University, 212 Samford Hall, Auburn, AL 36849, USA
Received 10 January 2012; Revised 13 April 2012; Accepted 16 April 2012
Academic Editor: Oreste Gualillo
Copyright © 2012 David A. Dunn and Carl A. Pinkert. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- J. N. Timmis, M. A. Ayliffe, C. Y. Huang, and W. Martin, “Endosymbiotic gene transfer: organelle genomes forge eukaryotic chromosomes,” Nature Reviews Genetics, vol. 5, no. 2, pp. 123–135, 2004.
- S. DiMauro and M. Mancuso, “Mitochondrial diseases: therapeutic approaches,” Bioscience Reports, vol. 27, no. 1–3, pp. 125–137, 2007.
- D. S. Kyriakouli, P. Boesch, R. W. Taylor, and R. N. Lightowlers, “Progress and prospects: gene therapy for mitochondrial DNA disease,” Gene Therapy, vol. 15, no. 14, pp. 1017–1023, 2008.
- H. Cwerman-Thibault, J. A. Sahel, and M. Corral-Debrinski, “Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations,” Journal of Inherited Metabolic Disease, vol. 34, no. 2, pp. 327–344, 2011.
- D. A. Dunn, M. V. Cannon, M. H. Irwin, and C. A. Pinkert, “Animal models of human mitochondrial DNA mutations,” Biochimica et Biophysica Acta, vol. 1820, no. 5, pp. 601–607, 2011.
- D. P. Gearing and P. Nagley, “Yeast mitochondrial ATPase subunit 8, normally a mitochondrial gene product, expressed in vitro and imported back into the organelle,” The EMBO Journal, vol. 5, no. 13, pp. 3651–3655, 1986.
- G. Manfredi, J. Fu, J. Ojaimi et al., “Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus,” Nature Genetics, vol. 30, no. 4, pp. 394–399, 2002.
- Y. Shidara, K. Yamagata, T. Kanamori et al., “Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis,” Cancer Research, vol. 65, no. 5, pp. 1655–1663, 2005.
- S. J. Zullo, W. T. Parks, M. Chloupkova et al., “Stable transformation of CHO cells and human NARP cybrids confers oligomycin resistance (olir) following transfer of a mitochondrial DNA-encoded olir ATPase6 gene to the nuclear genome: a model system for mtDNA gene therapy,” Rejuvenation Research, vol. 8, no. 1, pp. 18–28, 2005.
- X. Qi, L. Sun, A. S. Lewin, W. W. Hauswirth, and J. Guy, “The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse,” Investigative Ophthalmology & Visual Science, vol. 48, no. 1, pp. 1–10, 2007.
- J. Guy, X. Qi, R. D. Koilkonda et al., “Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system,” Investigative Ophthalmology & Visual Science, vol. 50, no. 9, pp. 4205–4214, 2009.
- I. J. Holt, A. E. Harding, R. K. Petty, and J. A. Morgan-Hughes, “A new mitochondrial disease associated with mitochondrial DNA heteroplasmy,” American Journal of Human Genetics, vol. 46, no. 3, pp. 428–433, 1990.
- P. Makela-Bengs, A. Suomalainen, A. Majander et al., “Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome,” Pediatric Research, vol. 37, no. 5, pp. 634–639, 1995.
- F. M. Santorelli, S. Shanske, A. Macaya, D. C. DeVivo, and S. DiMauro, “The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome,” Annals of Neurology, vol. 34, no. 6, pp. 827–834, 1993.
- L. Young and Q. Dong, “Two-step total gene synthesis method,” Nucleic Acids Research, vol. 32, no. 7, article e59, 2004.
- R. Rizzuto, A. W. Simpson, M. Brini, and T. Pozzan, “Rapid changes of mitochondrial Ca2+ revealed by specifically targeted recombinant aequorin,” Nature, vol. 358, no. 6384, pp. 325–327, 1992.
- D. W. Kim, T. Uetsuki, Y. Kaziro, N. Yamaguchi, and S. Sugano, “Use of the human elongation factor 1α promoter as a versatile and efficient expression system,” Gene, vol. 91, no. 2, pp. 217–223, 1990.
- G. I. Evan, G. K. Lewis, G. Ramsay, and J. M. Bishop, “Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product,” Molecular and Cellular Biology, vol. 5, no. 12, pp. 3610–3616, 1985.
- C. A. Pinkert, Transgenic Animal Technology: A Laboratory Handbook, Academic Press, San Diego, Calif, USA, 2002.
- T. Karl, R. Pabst, and S. von Hörsten, “Behavioral phenotyping of mice in pharmacological and toxicological research,” Experimental and Toxicologic Pathology, vol. 55, no. 1, pp. 69–83, 2003.
- R. J. Carter, L. A. Lione, T. Humby et al., “Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation,” Journal of Neuroscience, vol. 19, no. 8, pp. 3248–3257, 1999.
- I. A. Trounce, Y. L. Kim, A. S. Jun, and D. C. Wallace, “Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines,” Methods in Enzymology, vol. 264, pp. 484–509, 1996.
- Y. Will, J. Hynes, V. I. Ogurtsov, and D. B. Papkovsky, “Analysis of mitochondrial function using phosphorescent oxygen-sensitive probes,” Nature Protocols, vol. 1, no. 6, pp. 2563–2572, 2007.
- C. Vives-Bauza, L. Yang, and G. Manfredi, “Assay of mitochondrial ATP synthesis in animal cells and tissues,” Methods in Cell Biology, vol. 80, pp. 155–171, 2007.
- M. D'Aurelio, C. Vives-Bauza, M. M. Davidson, and G. Manfredi, “Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells,” Human Molecular Genetics, vol. 19, no. 2, Article ID ddp503, pp. 374–386, 2010.
- D. C. Wallace, “Bioenergetics and the epigenome: interface between the environment and genes in common diseases,” Developmental Disabilities Research Reviews, vol. 16, no. 2, pp. 114–119, 2010.