The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 210-215

  Loeffen, J ^a   Smeets, R ^a   Smeitink, J ^a   Ruitenbeek, W ^a   Janssen, A ^a   Mariman, E ^a   Sengers, R ^a   Trijbels, F ^a   Van Den Heuvel, L ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; ENCEPHALOMYOPATHY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; SKIN FIBROBLAST; TISSUE DISTRIBUTION; X CHROMOSOME;

DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; NAD(P)H DEHYDROGENASE (QUINONE); NADH, NADPH OXIDOREDUCTASES; RNA, MESSENGER; TISSUE DISTRIBUTION; X CHROMOSOME;

EID: 0031927247     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005339332062     Document Type: Conference Paper

References (16)

1. Ali ST, Duncan AMV, Schappert K, et al (1993) Chromosomal localisation of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. Genomics 18: 435-439.
2. Bentlage HACM, Wendel U, Schagger H (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. De Coo R, Buddiger P, Smeets H, et al (1995) Molecular cloning, and characterization of the active human mitochondrial NADH : ubiquinone oxidoreductase 24kDa gene (NDUFV2), and its pseudogene. Genomics 26: 461-466.
4. Gu JZ, Lin X, Wells DE (1996) The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 in Branchio oto-renal syndrome. Genomics 35: 6-10.
5. Hatefi Y (1985) The mitochondrial electron transport, and oxidative phosphorylation system. Annu Rev Biochem 54: 1015-1069.
6. Hattori N, Suzuki H, Wang Y, et al (1995) Structural organisation, and chromosomal localisation 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.
7. Hyslop SJ, Duncan AMV, Pitkanen S, Robinson BH (1996) Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. Genomics 37: 375-380.
8. Orstavik KH, Skjorten F, Hellebostad M, Haga P, Langslet A (1993). Possible X-linked congenital mitochondrial cardiomyopathy in three families. J Med Genet 30: 269-272.
9. Pata I, Tensing K, Metspalu A (1997) A human cDNA encoding the homologue of NADH : ubiquinone oxidoreductase subunit B13. Biochim Biophys Acta 1350(2): 115-118.
10. Ploos van Amstel JK, Bergman AJ, Beurden van 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.
11. Procaccio V, Depetris D, Soularue P, Matei MG, Lunardi J, Issartel J (1997) cDNA sequence, and chromosomal localisation of the NDUFS8 human gene coding for the 23kDa subunit of the mitochondrial complex I. Biochim Biophys Acta 1351: 37-41.
12. Robinson BH (1993) Lacticacidemia. Biochim Biophys Acta 1182: 231-244.
13. Sambrook J, Fritsch EF, Maniatis I (eds) (1989) Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
14. Walker JE (1992) The NADH : ubiquinone oxidoreductase (complex I) of respiratory chains. Q Rev Biophys 25: 253-324.
15. Zeviani M, Taroni F (1994) Mitochondrial diseases. Baillière's Clin Neurol 3(2): 315-334.
16. Zhuchenko O, Wehnert M, Baily 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.