Functional analysis in Saccharomyces cerevisiae of naturally occurring amino acid substitutions in human dihydrolipoamide dehydrogenase

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1643-1648

  Lanterman, Margaret M ^a   Dickinson, J Richard ^b   Danner, Dean J ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE; GLYCINE; MULTIENZYME COMPLEX; OXOACID; THIOCTIC ACID;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DECARBOXYLATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; GENE MUTATION; GENOTYPE; IMMUNOBLOTTING; MITOCHONDRION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SACCHAROMYCES CEREVISIAE; SITE DIRECTED MUTAGENESIS; SPECIES DIFFERENCE; YEAST CELL;

EID: 0029799962     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1643     Document Type: Article

References (30)

1. Carothers, D.J., Pons, G. and Patel, M.S. (1989) Dihydrolipoamide dehydrogenase: functional similarities and divergent evolution of the pyridine nucleotide-disulfide oxidoreductase. Arch. Biochem. Biophys., 268, 409-425.
2. Bourguignon, J., Macherel, D., Neuburger, M. and Douce, R. (1992) Isolation, characterization and sequence analysis of a cDNA clone encoding L-protein, the dihydrolipoamide dehydrogenase component of the glycine cleavage system from pea-leaf mitochondria. Eur. J. Biochem., 204, 865-873.
3. Kikuchi, G. and Hiraga, K. (1982) The mitochondrial glycine cleavage system. Unique features of the glycine decarboxylation. Mol. Cell. Biochem., 45, 137-149.
4. Jentoft, J.E., Shoham, M., Hurst, D. and Patel, M.S. (1992) A structural model for human dihydrolipoamide dehydrogenase. Proteins, 14, 88-101.
5. Takenaka, A., Kizawa, K., Hata, T., Sato, S., Misaka, E. I., Tamura, C. and Sasada, Y. (1988) X-ray study of baker's yeast lipoamide dehydrogenase at 4.5 Å resolution by molecular replacement method. J. Biochem., 103, 463-469.
6. Schierbeek, A.J., Swarte, M.B.A., Dijkstra, B.W., Vriend, G., Read, R.J., Hol, W.G.J., Drenth, J. and Betzel, C. (1989) X-ray structure of lipoamide dehydrogenase from Azotobacter vinelandii determined by a combination of molecular and isomorphous replacement techniques. J. Mol. Biol., 206, 365-379.
7. Kim, H. and Patel, M.S. (1992) Characterization of two site-specifically mutated human dihydrolipoamide dehydrogenases (His-452→Gln and Glu-457→Gln). J. Biol. Chem., 261, 5128-5132.
8. Liu, T.-C., Kim, H., Arizmendi, C., Kitano, A. and Patel, M.S. (1993) Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc. Natl. Acad. Sci. USA. 90, 5186-5190.
9. Raben, N., Exelbert, R., Spiegel, R., Sherman, J.B., Nakajima, H., Plotz, P. and Heinisch, J. (1995) Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency Am. J. Hum. Genet., 56, 131-141.
10. Fridovich-Keil, J.L. and Jinks-Robertson, S. (1993) A yeast expression system for human galactose 1-phosphate uridylyltransferase. Proc. Natl. Acad. Sci. USA, 90, 398-402.
11. Dougherty, K.M., Swanson, D.A., Brody, L.C. and Valle, D. (1993) Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae. Hum. Mol. Genet., 2, 1835-1840.
12. Saghibini, M., Broomfield, P.L.E. and Scheffler, I.E. (1994) Studies on the assembly of complex II in yeast mitochondria using chimeric human/yeast genes for the iron-sulfur protein subunit. Biochemistry, 33, 159-165.
13. Beard, S.E., Goodman, S.I., Bemelen, K. and Frerman, F.E. (1995) Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase. Hum. Mol. Genet., 4, 157-161.
14. Mori, T., Oshima, Y. and Kochi, H. (1994) Binding properties of the components of branched-chain 2-oxoacid dehydrogenase complex on ELISA. J. Biochem., 116, 1111-1116.
15. Rice, J.E., Dunbar, B. and Lindsay, J.G. (1992) Sequences directing dihydrolipoamide dehydrogenase (E3) binding are located on the 2-oxoglutarate dehydrogenase (E1) component of the mammalian 2-oxoglutarate dehydrogenase multienzyme complex. EMBO J., 11, 3229-3235.
16. Behal, R.H., Browning, K.S., Hall, T.B. and Reed, L.J. (1989) Cloning and nucleotide sequence of the gene for protein X from Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA, 86, 8732-8736.
17. Lawson, J.E., Niu, X.-D. and Reed, L.J. (1991) Functional analysis of the domains of dihydrolipoamide acetyltransferase from Saccharomyces cerevisiae. Biochemistry, 30, 11249-11254.
18. Dickinson, J.R., Roy, D.J. and Dawes, I.W. (1986) A mutation affecting lipoamide dehydrogenase, pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase activities in Saccharomyces cerevisiae. Mol. Gen. Genet., 204, 103-107.
19. Repetto, B. and Tzagoloff, A. (1989) Structure and regulation of KGD1, the structural gene for yeast alpha-ketoglutarate dehydrogenase. Mol. Cell. Biol., 9, 2695-2705.
20. Dickinson, J.R. and Dawes, I.W. (1992) The calabolism of branched-chain amino acids occurs via 2-oxoacid dehydrogenase in Saccharomyces cerevisiae. J. Gen. Microbiol., 138, 2029-2033.
21. Pons, G., Raefsky-Estrin, C., Carothers, D.J., Pepin, R.A., Javed, A.A., Jesse, B.W., Ganapathi, M.K., Samols, D. and Patel, M.S. (1988) Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human alpha-ketoacid dehydrogenase complexes. Proc. Natl. Acad. Sci. USA, 85, 1422-1426.
22. Browning, K.S., Uhlinger, D.J. and Reed, L.J. (1988) Nucleotide sequence for yeast dihydrolipoamide dehydrogenase. Proc. Natl. Acad. Sci. USA, 85, 1831-1834.
23. Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Smith, J.A., Seidman, J.G. and Struhl, K. (1989) Current Protocols in Molecular Biology. Greene Publishing Assoc. and Wiley-Interscience, New York.
24. Gietz, R.D. and Sugino, A. (1988) New yeast-Echerichia coli shuttle vectors constructed with in vitro mutagenized yeast genes lacking six-base pair restriction sites. Gene, 74, 527-534.
25. Sikorskj, R.S. and Hieter, P. (1989) A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae. Genetics, 122, 19-27.
26. Ito, H., Fukuda, Y., Murata, K. and Kimura, A. (1983) Transformation of intact yeast cells treated with alkali cations. J. Bacteriol., 153, 163-168.
27. Campbell, I. and Duffus, J.H. (1988) Yeast: A Practical Approach. IRL Press, Washington, DC.
28. Uhlinger, D.J., Yang, C.-Y. and Reed, L.J. (1986) Phosphorylation-dephosphorylation of pyruvate dehydrogenase from baker's yeast. Biochemistry, 25, 5673-5677.
29. Creaghan, I.T. and Guest, J.R. (1972) Amber mutants of the α-ketoglutarate dehydrogenase gene of Escherichia coli K12. J. Gen. Microbiol., 71, 207-220.
30. Hoffman, C.S. and Winston, F. (1987) A ten minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli. Gene, 57, 267-272.