Replacement of C305 in heart/muscle-type isozyme of human carnitine palmitoyltransferase i with aspartic acid and other amino acids

Biochemical Genetics

Volumn 48, Issue 3-4, 2010, Pages 193-201

  Matsuo, Taisuke ^a   Yamamoto, Atsushi ^a   Yamamoto, Takenori ^a   Otsuki, Kaoru ^a   Yamazaki, Naoshi ^a   Kataoka, Masatoshi ^b   Terada, Hiroshi ^c   Shinohara, Yasuo ^a,b  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b NATIONAL INSTITUTE OF ADVANCED INDUSTRIAL SCIENCE AND TECHNOLOGY AIST   (Japan)

^c TOKYO UNIVERSITY OF SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CARNITINE PALMITOYLTRANSFERASE I; CYSTEINE; ISOENZYME;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME STABILITY; HEART; MUSCLE; MUTATION; NONHUMAN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMINO ACIDS; ANIMALS; ASPARTIC ACID; CARNITINE O-PALMITOYLTRANSFERASE; CERCOPITHECUS AETHIOPS; COS CELLS; CYSTEINE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; ISOENZYMES; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; MYOCARDIUM; ORGAN SPECIFICITY;

EID: 77950859558     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-009-9301-z     Document Type: Article

References (18)

1. Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC (2001) Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res 42:1134-1142 (Pubitemid 32645796)
2. Dai J, Zhu H, Woldegiorgis G (2003) Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for activity. Biochem Biophys Res Commun 301:758-763 (Pubitemid 36268954)
3. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859-864
4. Esser V, Britton CH, Weis BC, Foster DW, McGarry JD (1993) Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function. J Biol Chem 268:5817-5822 (Pubitemid 23090912)
5. Hashimoto M, Shinohara Y, Majima E, Hatanaka T, Yamazaki N, Terada H (1999) Expression of the bovine heart mitochondrial ADP/ATP carrier in yeast mitochondria: significantly enhanced expression by replacement of the N-terminal region of the bovine carrier by the corresponding regions of the yeast carriers. Biochim Biophys Acta 1409:113-124 (Pubitemid 29044061)
6. Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR (1989) Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77:51-59 (Pubitemid 19125653)
7. IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest 102:527-531 (Pubitemid 28376155)
8. Liu H, Zheng G, Treber M, Dai J, Woldegiorgis G (2005) Cysteine-scanning mutagenesis of muscle carnitine palmitoyltransferase I reveals a single cysteine residue (Cys-305) is important for catalysis. J Biol Chem 280:4524-4531 (Pubitemid 40288620)
9. McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244:1-14 (Pubitemid 27079689)
10. Niwa H, Yamamura K, Miyazaki J (1991) Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-199
11. Pan Y, Cohen I, Guillerault F, Feve B, Girard J, Prip-Buus C (2002) The extreme C terminus of rat liver carnitine palmitoyltransferase I is not involved in malonyl-CoA sensitivity but in initial protein folding. J Biol Chem 277:47184-47189 (Pubitemid 36159228)
12. Price N, van der Leij F, Jackson V, Corstorphine C, Thomson R, Sorensen A, Zammit V (2002) A novel brain-expressed protein related to carnitine palmitoyltransferase I. Genomics 80:433-442 (Pubitemid 35300742)
13. Shi J, Zhu H, Arvidson DN, Woldegiorgis G (1999) A single amino acid change (substitution of glutamate 3 with alanine) in the N-terminal region of rat liver carnitine palmitoyltransferase I abolishes malonyl-CoA inhibition and high affinity binding. J Biol Chem 274:9421-9426 (Pubitemid 129517912)
14. Yamazaki N, Shinohara Y, Shima A, Terada H (1995) High expression of a novel carnitine palmitoyltransferase I like protein in rat brown adipose tissue and heart: isolation and characterization of its cDNA clone. FEBS Lett 363:41-45
15. Yamazaki N, Shinohara Y, Shima A, Yamanaka Y, Terada H (1996) Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. Biochim Biophys Acta 1307:157-161 (Pubitemid 26191339)
16. Yamazaki N, Yamanaka Y, Hashimoto Y, Shinohara Y, Shima A, Terada H (1997) Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. FEBS Lett 409:401-406 (Pubitemid 27285894)
17. Yamazaki N, Matsuo T, Kurata M, Suzuki M, Fujiwaki T, Yamaguchi S, Terada H, Shinohara Y (2008) Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms. Biochem Genet 46:54-63
18. Zhu H, Shi J, Treber M, Dai J, Arvidson DN, Woldegiorgis G (2003) Substitution of glutamate-3, valine-19, leucine-23, and serine-24 with alanine in the N-terminal region of human heart muscle carnitine palmitoyltransferase I abolishes malonyl CoA inhibition and binding. Arch Biochem Biophys 413:67-74 (Pubitemid 36434352)