Structural organization of the human short-chain acyl-CoA dehydrogenase gene

Mammalian Genome

Volumn 8, Issue 12, 1997, Pages 922-926

  Corydon, Morten Juhl ^a,b   Andresen, Brage Storstein ^a,b   Bross, Peter ^a,b   Kjeldsen, Margrethe ^a,b   Andreasen, Per Hove ^a,b   Eiberg, Hans ^c   Kølvraa, Steen ^a,b   Gregersen, Nils ^a,b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; DENMARK; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EXON; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHYLOGENY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BLOTTING, SOUTHERN; DENMARK; EXONS; GENE FREQUENCY; GENES; HUMANS; MOLECULAR SEQUENCE DATA; PHYLOGENY; POLYMORPHISM, GENETIC; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

PRIACANTHUS HAMRUR;

EID: 0031541456     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900612     Document Type: Article

References (26)

1. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot M-T, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N (1996) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 5, 461-472 and 1390
2. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T (1995) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95, 2465-2473
3. Barton DE, Yang-Feng TL, Finocchiro G, Ozasa H, Tanaka K, Franke U (1987) Short chain acyl-CoA dehydrogenase (ACADS) maps to chromosome 12 (q22-qter) and electron transfer flavoprotein (ETFA) to 15 (q23-q25). Cytogenet Cell Genet 46, 577-578 (Abstr.)
4. Beinert H (1963) Acyl coenzyme A dehydrogenases. In The Enzymes, PD Boyer, H Lardy, K Myrback, eds. (New York: Academic Press), Vol 7, pp 447-476
5. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE (1995) Clinical and biochemical characterization of short-chain acylcoenzyme A dehydrogenase deficiency. J Pediatr 126, 910-915
6. Biery BJ, Stein DE, Morton DH, Goodman SI (1996) Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59, 1006-1011
7. Brandt CA, Hindkjær J, Strømkjær H, Pedersen S, Sunde L, Kølvraa S (1993) Molecular cytogenetics: applications in clinical genetics. Eur J Obstet Gynecol Reprod Biol 50, 235-242
8. Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, Kølvraa S (1996) Ethylmalonic aciduria is associated with an amino acid variant of short chain acylcoenzyme A dehydrogenase. Pediatr Res 39, 1059-1066
9. Dorit RL, Gilbert W (1991) The limited universe of exons. Curr Opin Genet Dev 1, 464-469
10. Gregersen N, Andresen BS, Bross P, Winter W, Rüdiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kølvraa S, Bolund L, Ghisla S (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. Hum Genet 86, 545-551
11. Indo Y, Yang-Feng T, Glassberg R, Tanaka K (1991) Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. Genomics 11, 609-620
12. Kelly DP, Whelan AJ, Ogden ML, Alpers R, Zhang Z, Bellus G, Gregersen N, Dorland L, Strauss AW (1990) Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc Natl Acad Sci USA 87, 9236-9240
13. Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N (1994) Amino acid polymorphism (Gly209Ser) in the ACADS gene. Hum Mol Genet 3, 1711
14. Matsubara Y, Kraus JP, Yang-Feng TL, Francke U, Rosenberg LE, Tanaka K (1986) Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci USA 83, 6543-6547
15. Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas II LJ, Pollitt RJ, Rhead WJ, Roe CR (1990) Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun 171, 498-505
16. Naito E, Ozasa H, Ikeda Y, Tanaka K (1989) Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 83, 1605-1613
17. Naito E, Yasuhiro I, Tanaka K (1990) Identification of two variant short-chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 85, 1575-1582
18. Nandy A, Küchler B, Ghisla S (1996) Molecular evolution and substrate specificity of acyl-CoA dehydrogenases: chimaeric medium/long chain-specific enzyme from medium-chain acyl-CoA dehydrogenase. Biochem Soc Trans 24, 105-110
19. Parimoo B, Tanaka K (1993) Structural organization of the human isovaleryl-CoA dehydrogenase gene. Genomics 15, 582-590
20. Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF (1995) Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 92, 10496-10500
21. Sudhof TC, Goldstein JL, Brown MS, Russell DW (1985) The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228, 815-822
22. Tanaka K, Indo Y (1992) Evolution of the acyl-CoA dehydrogenase/oxidase superfamily. In New Developments in Fatty Acid Oxidation, PM Coates, K Tanaka, eds. (New York: John Wiley), Vol 375, pp 95-110
23. Tanaka K, Matsubara Y, Indo Y, Naito E, Kraus J, Ozasa H (1990) The acyl-CoA family: Homology and divergence of primary sequence of four acyl-CoA dehydrogenases, and consideration of their functional significance. In Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects, K Tanaka, PM Coates, eds. (New York: Alan R. Liss), Vol 321, pp 577-589
24. Yokota I, Indo Y, Coates PM, Tanaka K (1990) Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86, 1000-1003
25. Zhang Z, Kelly DP, Kim J-J, Zhou Y, Ogden ML, Whelan AJ, Strauss AW (1992) Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene. Biochemistry 31, 81-89
26. Zhang Z, Zhou Y, Mendelsohn NJ, Bauer GS, Strauss AW (1997) Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors. Biochim Biophys Acta 1350, 53-64