The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 163-173

  Triepels, R ^a   Smeitink, J ^a   Loeffen, J ^a   Smeets, R ^a   Buskens, C ^a   Trijbels, F ^a   Van Den Heuvel, L ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL CARRIER PROTEIN; COMPLEMENTARY DNA; PANTETHEINE PHOSPHATE; PROTEIN SUBUNIT; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CALCIUM BINDING; CATTLE; CODON; DNA SEQUENCE; FETUS HEART; FIBROBLAST; GENE EXPRESSION; HEART; HUMAN; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; OPEN READING FRAME; SKELETAL MUSCLE; TRANSLATION INITIATION;

ACYL CARRIER PROTEIN; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; CELL NUCLEUS; DNA, COMPLEMENTARY; HUMANS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NAD(P)H DEHYDROGENASE (QUINONE); SEQUENCE ANALYSIS, DNA; TISSUE DISTRIBUTION;

EID: 0032900130     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005402020569     Document Type: Article

References (47)

1. Adams MD, Kelley JM, Gocayne JD, et al (1991) Complementary DNA sequencing: expressed sequence tags and human genome project. Science 252: 1651-1656.
2. Bentlage HA, Wendel U, Schagger H, ter Laak HJ, Janssen AJ, Trijbels JM (1996) Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology 47: 243-248.
3. Bleistein J, Zierz S (1989) Partial deficiency of complexes I and IV of the mitochondrial respiratory chain in skeletal muscle of two patients with mitochondrial myopathy. J Neurol 236: 218-222.
4. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159.
5. Chow W, Ragan I, Robinson BH (1991) Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. Eur J Biochem 201: 547-550.
6. Claros MG, Vincens P (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem 241: 779-786.
7. Clay VJ, Ragan CI (1988) Evidence for the existence of tissue specific isoenzymes of mitochondrial NADH dehydrogenase. Biochem Biophys Res Commun 157: 1423-1428.
8. Cortes J, Haydock SF, Roberts GA, Bevitt DJ, Leadlay PF (1990) An unusually large multi-functional polypeptide in the erythromycin-producing polyketide synthase of Saccharopolyspora erythraea. Nature 348: 176-178.
9. de Coo RFM, Buddiger P, Smeets HJM, van Oost BA (1997) Molecular cloning and characterization of the human mitochondrial NADH: oxidoreductase 10-kDa gene [In Process Citation]. Genomics 45: 434-437.
10. Gibb GM, Ragan CI (1990) Identification of the subunits of bovine NADH dehydrogenase which are encoded by the mitochondrial genome. Biochem J 265: 903-906.
11. Gu JZ, Lin X, Wells DE (1996) The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. Genomics 35: 6-10.
12. Hattori N, Suzuki H, Wang Y, et al (1995) Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain. Biochem Biophys Res Commun 216: 771-777.
13. Hegde R (1998) The 24-kDa subunit of the bovine mitochondrial NADH: ubiquinone oxidoreductase is a G protein [In Process Citation]. Biochem Biophys Res Commun 244: 620-629.
14. Howell N, Bindoff LA, McCullough DA, et al (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49: 939-950.
15. Hyslop SJ, Duncan AM, Pitkanen S, Robinson BH (1996) Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. Genomics 37: 375-380.
16. James AM, Wei YH, Pang CY, Murphy MP (1996) Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem J 318: 401-407.
17. Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC (1996) Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16: 771-777.
18. Kim JW, Lee Y, Kang HB, et al (1997) Cloning of the human cDNA sequence encoding the NADH: ubiquinone oxidoreductase MLRQ subunit. Biochem Mol Biol Int 43: 669-675.
19. Kozak M (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292.
20. Kyte J, Doolittle RF (1982) A simple method for displaying the hydropathic character of a protein. J Mol Biol 157: 105-132.
21. Lestienne P, Nelson J, Riederer P, Jellinger K, Reichmann H (1990) Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect. J Neurochem 55: 1810-1812 [published erratum appears in J Neurochem 1991 Apr;56(4):1457].
22. Loeffen J, Smeets R, Smeitink J, et al (1998a) The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection. J Inher Metab Dis 21: 210-215.
23. Loeffen J, van den Heuvel L, Smeets R, et al (1998b) cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. Biochem Biophys Res Commun 247: 751-758.
24. Loeffen J, Smeets R, Smeitink J, et al (1999) The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, tissue distribution, and the absence of mutations in isolated complex I deficient patients. J Inher Metab Dis 22: 19-28.
25. Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M (1991) Electron transfer properties of NADH: ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 292: 289-292.
26. Morris AA, Jackson MJ, Bindoff LA, Turnbull DM (1995) The investigation of mitochondrial respiratory chain disease. J R Soc Med 88: 271P-222P.
27. Morris AA, Leonard JV, Brown GK et al (1996) Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 40: 25-30.
28. Papa S, Sardanelli AM, Cocco T, Speranza F, Scacco SC, Technikova Dobrova Z (1996) The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase. FEBS Lett 379: 299-301.
29. Pata I, Tensing K, Metspalu A (1997) A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13. Biochim Biophys Acta 1350: 115-118.
30. Pitkanen S, Feigenbaum A, Laframboise R, Robinson BH (1996) NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. J Inher Metab Dis 19: 675-686.
31. Ploos van Amstel JK, Bergman AJ, van Beurden EA et al (1996) Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Hum Genet 97: 51-59.
32. Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, Issartel JP (1997) cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. Biochim Biophys Acta 1351: 37-41.
33. Pugh EL, Wakil SJ (1965) Studies on the mechanism of fatty acid synthesis. XIV. The prosthetic group of acyl carrier protein and the mode of its attachment to the protein. J Biol Chem 240: 4727-4733.
34. Runswick MJ, Fearnley IM, Skehel JM, Walker JE (1991) Presence of an acyl carrier protein in NADH: ubiquinone oxidoreductase from bovine heart mitochondria. FEBS Lett 286: 121-124.
35. Sackmann U, Zensen R, Rohlen D, Jahnke U, Weiss H (1991) The acyl-carrier protein in Neurospora crassa mitochondria is a subunit of NADH: ubiquinone reductase (complex I). Eur J Biochem 200: 463-469.
36. Schatz G, Dobberstein B (1996) Common principles of protein translocation across membranes. Science 271: 1519-1526.
37. Schneider R, Massow M, Lisowsky T, Weiss H (1995) Different respiratory-defective phenotypes of Neurospora crassa and Saccharomyces cerevisiae after inactivation of the gene encoding the mitochondrial acyl carrier protein. Curr Genet 29: 10-17.
38. Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L (1998) Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3′UTR with the 5′UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? [In Process Citation]. Biochem Biophys Res Commun 245: 599-606.
39. Shintani DK, Ohlrogge JB (1994) The characterization of a mitochondrial acyl carrier protein isoform isolated from Arabidopsis thaliana. Plant Physiol 104: 1221-1229.
40. Smeitink J, Loeffen J, Smeets R et al (1998a) Molecular characterization and mutational analysis in the human B17 subunit of the mitochondrial respiratory chain complex I. Hum Genet 103: 245-250.
41. Smeitink JAM, Loeffen JLCM, Triepels RH, Smeets RJP, Trijbels JMF, van den Heuvel LP (1998b) Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. Hum Mol Genet 7: 1573-1579.
42. Ton C, Hwang DM, Dempsey AA, Liew CC (1997) Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits [In Process Citation]. Biochem Biophys Res Commun 241: 589-594.
43. Trijbels JM, Ruitenbeek W, Sengers RC, Janssen AJ, van Oost BA (1996) Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. J Inher Metab Dis 19: 149-152.
44. van den Heuvel L, Ruitenbeek W, Smeets R et al (1988) Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 62: 262-268.
45. Walker JE, Skehel JM, Buchanan SK (1995) Structural analysis of NADH: ubiquinone oxidoreductase from bovine heart mitochondria. Methods Enzymol 260: 14-34.
46. Weinman S (1991) Calcium-binding proteins: an overview. J Biol Buccale 19: 90-98.
47. Zhuchenko O, Wehnert M, Bailey J, Sun ZS, Lee CC (1996) Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. Genomics 37: 281-288.