Mitochondrial DNA Instability and Peri-Implantation Lethality Associated with Targeted Disruption of Nuclear Respiratory Factor 1 in Mice

REFERENCES

• Abbondanzo, S. J., I. Gadi, and C. L. Stewart. 1993. Derivation of embryonic stem cell lines. Methods Enzymol. 225:803–855.
   PubMed Web of Science ®Google Scholar
• Barbacci, E., M. Reber, M.-O. Ott, C. Breillat, F. Huetz, and S. Cereghini. 1999. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development 126:4795–4805.
   PubMed Web of Science ®Google Scholar
• Becker, T. S., S. M. Burgess, A. H. Amsterdam, M. L. Allende, and N. Hopkins. 1998. not really finished is crucial for development of the zebrafish outer retina and encodes a transcription factor highly homologous to human nuclear respiratory factor 1 and avian initiation binding repressor. Development 124:4369–4378.
   Google Scholar
• Bogarad, L. D., M. I. Arnone, C. Chang, and E. H. Davidson. 1998. Interference with gene regulation in living sea urchin embryos: transcription factor knock out (TKO), a genetically controlled vector for blockade of specific transcription factors. Proc. Natl. Acad. Sci. USA 95:14827–14832.
   PubMedGoogle Scholar
• Carmeliet, P., M. G. Lampugnani, L. Moons, F. Breviario, V. Compernolle, F. Bono, G. Balconi, R. Spagnuolo, B. Oostuyse, M. Dewerchin, A. Zanetti, A. Angellilo, V. Mattot, D. Nuyens, E. Lutgens, F. Clotman, M. C. de Ruiter, A. Gittenberger-de Groot, R. Poelmann, F. Lupu, J. M. Herbert, D. Collen, and E. Dejana. 1999. Targeted deficiency or cytosolic truncation of the VE-cadherin gene in mice impairs VEGF-mediated endothelial survival and angiogenesis. Cell 98:147–157.
   PubMed Web of Science ®Google Scholar
• Chang, D. D., and D. A. Clayton. 1987. A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA. Science 235:1178–1184.
   PubMed Web of Science ®Google Scholar
• Chau, C. A., M. J. Evans, and R. C. Scarpulla. 1992. Nuclear respiratory factor 1 activation sites in genes encoding the gamma-subunit of ATP synthase, eukaryotic initiation factor 2α, and tyrosine aminotransferase. Specific interaction of purified NRF-1 with multiple target genes. J. Biol. Chem. 267:6999–7006.
   PubMed Web of Science ®Google Scholar
• Chen, S. H., P. L. Nagy, and H. Zalkin. 1997. Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. Nucleic Acids Res. 25:1809–1816.
   PubMedGoogle Scholar
• Desimone, S. M., and K. White. 1993. The Drosophila erect wing gene, which is important for both neuronal and muscle development, encodes a protein which is similar to the sea urchin P3A2 DNA binding protein. Mol. Cell. Biol. 13:3641–3949.
   PubMedGoogle Scholar
• Evans, M. J., and R. C. Scarpulla. 1989. Interaction of nuclear factors with multiple sites in the somatic cytochrome c promoter. Characterization of upstream NRF-1, ATF and intron Sp1 recognition sites. J. Biol. Chem. 264:14361–14368.
   PubMed Web of Science ®Google Scholar
• Evans, M. J., and R. C. Scarpulla. 1990. NRF-1: a trans-activator of nuclear-encoded respiratory genes in animal cells. Genes Dev. 4:1023–1034.
   PubMed Web of Science ®Google Scholar
• Fisher, R. P., and D. A. Clayton. 1988. Purification and characterization of human mitochondrial transcription factor 1. Mol. Cell. Biol. 8:3496–3509.
   PubMed Web of Science ®Google Scholar
• Fleming, R. J., S. M. Desimone, and K. White. 1989. Molecular isolation and analysis of the erect wing locus in Drosophila melanogaster. Mol. Cell. Biol. 9:719–725.
   PubMedGoogle Scholar
• Fleming, R. J., S. B. Zusman, and K. White. 1983. Developmental genetic analysis of lethal alleles at the ewg locus and their effects on muscle development in Drosophila melanogaster. Dev. Genet. 3:347–363.
   Google Scholar
• Gugneja, S., and R. C. Scarpulla. 1997. Serine phosphorylation within a concise amino-terminal domain in nuclear respiratory factor 1 enhances DNA binding. J. Biol. Chem. 272:18732–18739.
   PubMedGoogle Scholar
• Gugneja, S., C. A. Virbasius, and R. C. Scarpulla. 1996. Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription. Mol. Cell. Biol. 16:5708–5716.
   PubMedGoogle Scholar
• Gupta, S., and G. C. Van Tuyle. 1998. The gene and processed pseudogenes of the rat mitochondrial single-strand DNA-binding protein: structure and promoter strength analyses. Gene 212:269–278.
   PubMedGoogle Scholar
• Hardy, K.. 1997. Cell death in the mammalian blastocyst. Mol. Hum. Reprod. 3:919–925.
   PubMed Web of Science ®Google Scholar
• Hensleigh, H. C., and H. M. Weitlauf. 1974. Effect of delayed implantation on dry weight and lipid content of mouse blastocysts. Biol. Reprod. 10:315–320.
   PubMed Web of Science ®Google Scholar
• Herz, J., D. E. Couthier, and R. E. Hammer. 1993. LDL receptor-related protein internalizes and degrades uPA-PAL-1 complexes and is essential for embryo implantation. Cell 71:411–421.
   Google Scholar
• Hogan, B., R. Beddington, F. Costantini, and E. Lacy. 1994. Manipulating the mouse embryo: a laboratory manual. Cold Spring Harbor Laboratory Press, Plainview, N.Y
   Google Scholar
• Hong, N., M. Flannery, S. N. Hsieh, D. Cado, R. Pedersen, and A. Winoto. 2000. Mice lacking Dad1, the defender against apoptotic death-1, express abnormal N-linked glycoproteins and undergo increased embryonic apoptosis. Dev. Biol. 220:76–84.
   PubMedGoogle Scholar
• Huo, L., and R. C. Scarpulla. 1999. Multiple 5′-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency. Gene 233:213–224.
   PubMedGoogle Scholar
• Johnson, L. V., M. L. Walsh, and L. B. Chen. 1980. Localization of mitochondria in living cells with rhodamine 123. Proc. Natl. Acad. Sci. USA 77:990–994.
   PubMed Web of Science ®Google Scholar
• Kidder, G. M.. 1992. The genetic program for preimplantation development. Dev. Genet. 13:319–325.
   PubMedGoogle Scholar
• Koutsourakis, M., A. Langeveld, R. Patient, R. Beddington, and F. Grosveld. 1999. The transcription factor GATA6 is essential for early extraembryonic development. Development 126:723–732.
   Web of Science ®Google Scholar
• Kunkel, T. A.. 1985. Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc. Natl. Acad. Sci. USA 82:488–492.
   PubMed Web of Science ®Google Scholar
• Larsson, N.-G., A. Oldfors, E. Holme, and D. A. Clayton. 1994. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem. Biophys. Res. Commun. 200:1374–1381.
   PubMed Web of Science ®Google Scholar
• Larsson, N. G., J. M. Wang, H. Wilhelmsson, A. Oldfors, P. Rustin, M. Lewandoski, G. S. Barsh, and D. A. Clayton. 1998. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat. Genet. 18:231–236.
   PubMed Web of Science ®Google Scholar
• McLaren, A.. 1976. Growth from fertilization to birth in the mouse: embryogenesis in mammals. Ciba Found. Symp. 40:47–51.
   Google Scholar
• Michaels, G. S., W. W. Hauswirth, and P. J. Laipis. 1982. Mitochondrial DNA copy number in bovine oocytes and somatic cells. Dev. Biol. 94:246–251.
   PubMed Web of Science ®Google Scholar
• Mills, R. M. Jr., and R. L. Brinster. 1967. Oxygen consumption of preimplantation mouse embryos. Exp. Cell Res. 47:337–344.
   Google Scholar
• Myers, S. J., J. Peters, Y. Huang, M. B. Comer, F. Barthel, and R. Dingledine. 1998. Transcriptional regulation of the GluR2 gene: neural-specific expression, multiple promoters, and regulatory elements. J. Neurosci. 18:6723–6739.
   PubMedGoogle Scholar
• Parisi, M. A., and D. A. Clayton. 1991. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252:965–969.
   PubMed Web of Science ®Google Scholar
• Piko, L., and D. G. Chase. 1973. Role of the mitochondrial genome during early development in mice. Effects of ethidium bromide and chloramphenicol. J. Cell Sci. 58:357–378.
   Google Scholar
• Piko, L., and L. Matsumoto. 1976. Number of mitochondria and some properties of mitochondrial DNA in the mouse egg. Dev. Biol. 49:1–10.
   PubMed Web of Science ®Google Scholar
• Piko, L., and K. D. Taylor. 1987. Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos. Dev. Biol. 123:364–374.
   PubMedGoogle Scholar
• Poulton, J., K. Morten, C. Freeman-Emmerson, C. Potter, C. Sewry, V. Dubowitz, H. Kidd, J. Stephenson, W. Whitehouse, F. J. Hansen, M. Parisi, and G. Brown. 1994. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum. Mol. Genet. 3:1763–1769.
   PubMedGoogle Scholar
• Scarpulla, R. C.. 1997. Nuclear control of respiratory chain expression in mammalian cells. J. Bioenerg. Biomembr. 29:109–119.
   PubMed Web of Science ®Google Scholar
• Schaefer, L., H. Engman, and J. B. Miller. 2000. Coding sequence, chromosomal localization, and expression pattern of Nrf-1: the mouse homolog of Drosophila erect wing. Genome 11:104–110.
   Google Scholar
• Schultz, R. M.. 1986. Molecular aspects of mammalian oocyte growth and maturation. Experimental approaches to mammalian embryonic development.. J. Rossant, and R. A. Pederson. 195–237. Cambridge University Press, Cambridge, England
   Google Scholar
• Shadel, G. S., and D. A. Clayton. 1997. Mitochondrial DNA maintenance in vertebrates. Annu. Rev. Biochem. 66:409–435.
   PubMed Web of Science ®Google Scholar
• Shen-Li, H., R. C. Hagan Jr., H. Hou, J. W. Horner II, H.-W. Lee, and R. A. DePinho. 2000. Essential role for Max in early embryonic growth and development. Genes Dev. 14:17–22.
   PubMed Web of Science ®Google Scholar
• Solecki, D., G. Bernhardt, M. Lipp, and E. Wimmer. 2000. Identification of a nuclear respiratory factor-1 binding site within the core promoter of the human polio virus receptor/CD155 gene. J. Biol. Chem. 275:12453–12462.
   PubMedGoogle Scholar
• Tanaka, Y., N. Patestos, T. Maekawa, and S. Ishii. 1999. B-myb is required for inner cell mass formation at an early stage of development. J. Biol. Chem. 274:28067–28070.
   PubMed Web of Science ®Google Scholar
• Tybulewicz, V. L., C. E. Crawford, P. K. Jackson, R. T. Bronson, and R. C. Mulligan. 1991. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65:1153–1163.
   PubMed Web of Science ®Google Scholar
• Vernet, M., C. Bonnerot, P. Briand, and J. Nicolas. 1993. Application of LacZ gene fusions to preimplantation development. Methods Enzymol. 225:434–451.
   PubMedGoogle Scholar
• Virbasius, C. A., J. V. Virbasius, and R. C. Scarpulla. 1993. NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators. Genes Dev. 7:2431–2445.
   PubMed Web of Science ®Google Scholar
• Virbasius, J. V., and R. C. Scarpulla. 1994. Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc. Natl. Acad. Sci. USA 91:1309–1313.
   PubMed Web of Science ®Google Scholar
• Wang, J., H. Wilhelmsson, C. Graff, H. Li, A. Oldfors, P. Rustin, J. C. Bruning, C. R. Kahn, D. A. Clayton, G. S. Barsh, P. Thoren, and N.-G. Larsson. 1999. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat. Genet. 21:133–137.
   PubMed Web of Science ®Google Scholar
• Wassarman, P. M., and R. A. Kinloch. 1992. Gene expression during oogenesis in mice. Mutat. Res. 296:3–15.
   PubMedGoogle Scholar
• Wegner, S. A., P. K. Ehrenberg, G. Chang, D. E. Dayhoff, A. L. Sleeker, and N. M. Michael. 1998. Genomic organization and functional characterization of the chemokine receptor CXCR4, a major entry co-receptor for human immunodeficiency virus type 1. J. Biol. Chem. 273:4754–4760.
   PubMed Web of Science ®Google Scholar
• Wu, Z., P. Puigserver, U. Andersson, C. Zhang, G. Adelmant, V. Mootha, A. Troy, S. Cinti, B. Lowell, R. C. Scarpulla, and B. M. Spiegelman. 1999. Mechanisms controlling mitochondrial biogenesis and function through the thermogenic coactivator PGC-1. Cell 98:115–124.
   PubMed Web of Science ®Google Scholar
• Zeller, R. W., R. J. Britten, and E. H. Davidson. 1995. Developmental utilization of SpP3A1 and SpP3A2: two proteins which recognize the same DNA target site in several sea urchin gene regulatory regions. Dev. Biol. 170:75–82.
   PubMedGoogle Scholar