Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene

Genomics

Volumn 26, Issue 3, 1995, Pages 461-466

  de Coo, René ^a   Buddiger, Paul ^a   Smeets, Hubert ^a   van Kessel, Ad Geurts ^a   Morgan Hughes, John ^b   Weghuis, Daniél Olde ^a   Overhauser, Joan ^c   van Oost, Bernard ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; GENE ASSIGNMENT; GENE ISOLATION; GENE MAPPING; GENE STRUCTURE; HUMAN; HUMAN CELL; MITOCHONDRIAL MYOPATHY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 19; CLONING, MOLECULAR; DNA PRIMERS; HUMAN; HYBRID CELLS; MOLECULAR SEQUENCE DATA; NAD(P)H DEHYDROGENASE (QUINONE); NADH, NADPH OXIDOREDUCTASES; OPEN READING FRAMES; PSEUDOGENES; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0029024362     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/0888-7543(95)80163-G     Document Type: Article

References (19)

1. Eikenboom, J. C. J., Vink, T., Bat, E., Sixma, J. J., and Reitsma, P. H. (1994). Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc. Natl. Acad. Sci. USA 91: 2221-2224.
2. Feinberg, A. P., and Vogelstein, B. (1983). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132: 6-13.
3. Galante, Y. M., and Hatefi, Y. (1979). Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase. Arch. Biochem. Biophys. 192: 559-568.
4. Geurts van Kessel, A., Tetteroo, P., Von dem Borne, A., Hagemeijer, A., and Bootsma, D. (1983). Expression of human myeloid-associated surface antigens in human-mouse myeloid cell hybrids. Proc. Natl. Acad. Ski. USA 80: 3748-3751.
5. Kozak, M. (1984). Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNA’s. Nucleic Acids Res. 12: 857-872.
6. Lemmink, H. H., Kluijtmans, L., Brunner, H. G., Schroder, C. H., Knebelmann, B., Jelinkova, E., van Oost, B. A., Monnens, L. A. H., and Smeets, H. J. M. (1994). Aberrant splicing of the COL4A5 gene in patients with Alport syndrome. Hum. Mol. Genet. 3, 317-322.
7. Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., and Jansen, G. (1992). Myotonic dystrophy mutation: An unstable CTG repeat in the 3 ’ untranslated region of the gene. Science 255: 1253-1255.
8. Miller, S. A., Dykes, D. D., and Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
9. Morgan-Hughes, J. A., Schapira, A. H. V., Cooper, J. M., and Clark, J. B. (1986). Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases. J. Bioenerg. Biomembr, 20: 365-382.
10. Ohnishi, T., Ragan, C. I., and Hatefi, Y. (1985). EPR studies of ironsulfur clusters in isolated subunits and subfractions of NADHubiquinone oxidoreductase. J. Biol. Chem. 260: 2782-2788.
11. Overhauser, J., Mewar, R., Rojas, K., Lia, K., Kline, A. D., and Silverman, G. A. (1993). STS map of genes and anonymous DNA fragments on human chromosome 18 using a panel of somatic cell hybrids. Genomics 15: 387-391.
12. Pilkington, S. J., and Walker, J. (1989). Mitochondrial NADH-ubiquinone reductase: Complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit. Biochemistry 28: 3257-3264.
13. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). “Molecular Cloning: A Laboratory Manual,” 2nd ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
14. Schapira, A. H. V., Cooper, J. M., Morgan-Hughes, J. A., Patel, S. D., Cleeter, M. J. W., Ragan, C. I., and Clark, J. B. (1988). Molecular basis of mitochondrial myopathies: Polypeptide analysis in complex-I deficiency. Lancet 8584: 500-503.
15. Schonk, D., Coerwinkel-Driessen, M., van Dalen, I., Oerlemans, F., Smeets, B., Schepens, F., Hulsebos, T., Cockburn, D., Boyd, Y., Davis, M., Rettig, W., Shaw, D., Roses, A., Ropers, H., and Wieringa, B. (1989). Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q. Genomics 4: 384-396.
16. Suijkerbuijk, R. F., Matthopoulos, D., Kearney, L., Monard, S., Dhut, S., Cotter, F. E., Herbergs, J., Geurts van Kessel, A., and Young, B. D. (1992). Fluorescent in situ identification of human marker chromosomes using flow sorting and Alu element-mediated PCR. Genomics 13: 355-362.
17. Toda, H., Hosokawa, Y., Nishikimi, M., Suzuki, H., Kato, K., and Ozawa, T. (1989). Cloning and sequencing of a cDNA encoding the precursor to the 24-kDa iron-sulfur protein of human mitochondrial NADH dehydrogenase. Int. J. Biochem. 21: 1161-1168.
18. Tran-Betcke, A., Warnecke, II., Backer, C., Zaborosch, C., and Friedrich, B. (1990). Cloning and nucleotide sequences of the genes for the subunits of NAD-reducing hydrogenase ofAlcaligenes eutrophus. J. Bacterial. 172: 2920-2929.
19. Walker, J. E., Arizmendi, J. M., Dupuis, A., Fearnley, I. M., Finel, M., Medd, S. M., Pilkington, S., Runswick, M. J., and Skehel, J. M. (1992). Sequences of 20 subunits of NADH: Ubiquinone oxidoreductase from bovine heart mitochondria. J. Mol. Biol. 226: 1051-1072.