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PMID: 10234612 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Journal of inherited metabolic disease ·Vol. 22 ·No. 2 ·1999-04-00 ·Pages 163-73

Triepels R, Smeitink J, Loeffen J, Smeets R, Buskens C, Trijbels F, van den Heuvel L

Abstract

We present the cDNA sequence of the human mitochondrial acyl carrier protein NDUFAB1, a nuclear-encoded subunit of complex I of the mitochondrial respiratory chain. We obtained the NDUFAB1 cDNA using the cDNA sequence of the bovine mitochondrial acyl carrier protein. The human cDNA contains two putative translation initiation codons. The human NDUFAB1 protein contains a phosphopantetheine attachment site (DLGLDSLDQVEIIMAM), unique for acyl carrier proteins, and an EF-hand calcium binding domain (DIDAEKLMCPQEI). Transcripts of this gene are found in a wide range of human tissues. The highests expression levels were observed, in descending order, in adult heart, skeletal muscle and fetal heart. We subjected NDUFAB1 fibroblast cDNA of 20 patients with an isolated enzymatic complex I deficiency to mutational detection. No mutations in the NDUFAB1 open reading frame were observed. Future studies will answer whether mutations in the NDUFAB1 promoter or transcription elements are responsible for the observed complex I deficiency.

MeSH Terms
Acyl Carrier Protein/genetics Adult Amino Acid Sequence Animals Base Sequence Cattle Cell Nucleus DNA, Complementary Humans Mitochondria Molecular Sequence Data Mutation NAD(P)H Dehydrogenase (Quinone)/genetics Sequence Analysis, DNA Tissue Distribution
Chemicals
Acyl Carrier Protein DNA, Complementary NAD(P)H Dehydrogenase (Quinone)
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Triepels R
Nijmegen Center for Mitochondrial Disorders, University Children's Hospital, Department of Pediatrics, The Netherlands.
Smeitink J
Loeffen J
Smeets R
Buskens C
Trijbels F
van den Heuvel L
References (47)
47 references, click to expand
  1. Calcium-binding proteins: an overview.
    J Biol Buccale. 1991 Mar;19(1):90-8 PMID: 1864864
  2. 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. 1998 Jun 29;247(3):751-8 PMID: 9647766
  3. The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase.
    FEBS Lett. 1996 Feb 5;379(3):299-301 PMID: 8603710
  4. Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria.
    FEBS Lett. 1991 Jul 29;286(1-2):121-4 PMID: 1907568
  5. 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. 1998 Feb;62(2):262-8 PMID: 9463323
  6. Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect.
    J Neurochem. 1990 Nov;55(5):1810-2 PMID: 2120389
  7. A simple method for displaying the hydropathic character of a protein.
    J Mol Biol. 1982 May 5;157(1):105-32 PMID: 7108955
  8. Computational method to predict mitochondrially imported proteins and their targeting sequences.
    Eur J Biochem. 1996 Nov 1;241(3):779-86 PMID: 8944766
  9. Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.
    Hum Genet. 1998 Aug;103(2):245-50 PMID: 9760212
  10. The acyl-carrier protein in Neurospora crassa mitochondria is a subunit of NADH:ubiquinone reductase (complex I).
    Eur J Biochem. 1991 Sep 1;200(2):463-9 PMID: 1832379
  11. 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. 1996 Jan;97(1):51-9 PMID: 8557261
  12. 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. 1996 Mar;16(3):771-7 PMID: 8622678
  13. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
    Cell. 1986 Jan 31;44(2):283-92 PMID: 3943125
  14. Different respiratory-defective phenotypes of Neurospora crassa and Saccharomyces cerevisiae after inactivation of the gene encoding the mitochondrial acyl carrier protein.
    Curr Genet. 1995 Dec;29(1):10-7 PMID: 8595652
  15. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.
    Genomics. 1996 Nov 1;37(3):281-8 PMID: 8938439
  16. 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. 1965 Dec;240(12):4727-33 PMID: 5321311
  17. The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.
    Genomics. 1996 Jul 1;35(1):6-10 PMID: 8661098
  18. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).
    Genomics. 1997 Oct 15;45(2):434-7 PMID: 9344673
  19. Structural analysis of NADH: ubiquinone oxidoreductase from bovine heart mitochondria.
    Methods Enzymol. 1995;260:14-34 PMID: 8592442
  20. Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.
    Hum Mol Genet. 1998;7(10):1573-9 PMID: 9735378
  21. Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
    Eur J Biochem. 1991 Nov 1;201(3):547-50 PMID: 1935949
  22. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.
    J Inherit Metab Dis. 1996;19(5):675-86 PMID: 8892026
  23. Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit.
    Biochem Mol Biol Int. 1997 Oct;43(3):669-75 PMID: 9352085
  24. 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. 1995 Nov 22;216(3):771-7 PMID: 7488192
  25. The investigation of mitochondrial respiratory chain disease.
    J R Soc Med. 1995 Apr;88(4):217P-222P PMID: 7745569
  26. An unusually large multifunctional polypeptide in the erythromycin-producing polyketide synthase of Saccharopolyspora erythraea.
    Nature. 1990 Nov 8;348(6297):176-8 PMID: 2234082
  27. 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?
    Biochem Biophys Res Commun. 1998 Apr 17;245(2):599-606 PMID: 9571201
  28. The 24-kDa subunit of the bovine mitochondrial NADH:ubiquinone oxidoreductase is a G protein.
    Biochem Biophys Res Commun. 1998 Mar 27;244(3):620-9 PMID: 9535715
  29. The characterization of a mitochondrial acyl carrier protein isoform isolated from Arabidopsis thaliana.
    Plant Physiol. 1994 Apr;104(4):1221-9 PMID: 8016262
  30. The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
    J Inherit Metab Dis. 1998 Jun;21(3):210-5 PMID: 9686359
  31. Identification of the subunits of bovine NADH dehydrogenase which are encoded by the mitochondrial genome.
    Biochem J. 1990 Feb 1;265(3):903-6 PMID: 2306223
  32. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits.
    Biochem Biophys Res Commun. 1997 Dec 18;241(2):589-94 PMID: 9425316
  33. Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.
    J Inherit Metab Dis. 1996;19(2):149-52 PMID: 8739952
  34. Common principles of protein translocation across membranes.
    Science. 1996 Mar 15;271(5255):1519-26 PMID: 8599107
  35. Partial deficiency of complexes I and IV of the mitochondrial respiratory chain in skeletal muscle of two patients with mitochondrial myopathy.
    J Neurol. 1989 May;236(4):218-22 PMID: 2547913
  36. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.
    Neurology. 1996 Jul;47(1):243-8 PMID: 8710086
  37. Evidence for the existence of tissue specific isoenzymes of mitochondrial NADH dehydrogenase.
    Biochem Biophys Res Commun. 1988 Dec 30;157(3):1423-8 PMID: 3061381
  38. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
    Biochem J. 1996 Sep 1;318 ( Pt 2):401-7 PMID: 8809026
  39. Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.
    Genomics. 1996 Nov 1;37(3):375-80 PMID: 8938450
  40. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.
    Biochim Biophys Acta. 1997 Mar 20;1351(1-2):37-41 PMID: 9116042
  41. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.
    Anal Biochem. 1987 Apr;162(1):156-9 PMID: 2440339
  42. A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13.
    Biochim Biophys Acta. 1997 Feb 7;1350(2):115-8 PMID: 9048877
  43. Deficiency of respiratory chain complex I is a common cause of Leigh disease.
    Ann Neurol. 1996 Jul;40(1):25-30 PMID: 8687187
  44. The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
    J Inherit Metab Dis. 1999 Feb;22(1):19-28 PMID: 10070614
  45. 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. 1991 Nov 4;292(1-2):289-92 PMID: 1959619
  46. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
    Am J Hum Genet. 1991 Nov;49(5):939-50 PMID: 1928099
  47. Complementary DNA sequencing: expressed sequence tags and human genome project.
    Science. 1991 Jun 21;252(5013):1651-6 PMID: 2047873
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1023/a:1005402020569
Published
1999-04-00
Pages
163-73
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1023/a:1005402020569 View journal details
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