Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

Human Mutation

Volumn 21, Issue 6, 2003, Pages 587-592

  Fukao, Toshiyuki ^a   Matsuo, Naoki ^a   Zhang, Gai Xiu ^a   Urasawa, Rintaro ^b   Kubo, Tetsuo ^b   Kohno, Yoshinori ^c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Hokushin General Hospital   (Japan)

^c National Hospital Organization   (Japan)

Author keywords

ACAT1; Acetoacetyl CoA thiolase; Beta ketothiolase deficiency; Expression analysis; Initiator codon; Mitochondrial; T2

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; ACETYL COENZYME A ACYLTRANSFERASE; COMPLEMENTARY DNA; MESSENGER RNA; MITOCHONDRIAL ENZYME; POLYPEPTIDE;

ACAT1 GENE; ACAT2 GENE; ARTICLE; CASE REPORT; CODON; ENZYME DEFICIENCY; FAMILY STUDY; FIBROBLAST CULTURE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; START CODON;

ACETYL-COA C-ACETYLTRANSFERASE; CELL LINE; CODON, INITIATOR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HUMANS; INFANT; JAPAN; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; PEPTIDES; POINT MUTATION; PROTEIN BIOSYNTHESIS; RNA, MESSENGER;

EID: 0038240733     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10209     Document Type: Article

References (32)

1. Breimer LH, Winder AF, Jay B, Jay M. 1994. Initiation codon mutation of the tyrosinase gene as a cause of human albinism. Clin Chim Acta 227:17-22.
2. Daum RS, Lamm P, Mamer OA, Scriver CR. 1971. A "new" disorder of isoleucine catabolism. Lancet 2:1289-1290.
3. Florkiewicz RZ, Sommer A. 1989. Human basic fibroblast growth factor gene encodes four polypeptides: three initiate translation from non-AUG codons. Proc Natl Acad Sci USA 86:3978-3981.
4. Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM. 1999. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. Clin Exp Dermatol 24:296-301.
5. Fukao T, Yamaguchi S, Orii T, Schutgens RBH, Osumi T, Hashimoto T. 1992. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-CoA thiolase: a complete analysis of two generations of a family with 3-ketothiolase deficiency. J Clin Invest 89:474-479.
6. Fukao T, Yamaguchi S, Scriver CR, Dunbar G, Wakazono A, Kano M, Orii T, Hashimoto T 1993. Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase in the two original families. Hum Mutat 2:214-220.
7. Fukao T, Yamaguchi S, Orii T, Hashimoto T. 1995. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat 5:113-120.
8. Fukao T, Song X-Q, Yamaguchi S, Hashimoto T, Orii T, Kondo N. 1996. Immunotitration analysis of cytosolic acetoacetyl-CoA thiolase activity in human fibroblasts. Pediatr. Res 39:1055-1058.
9. Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N. 1997. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A(CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42:498-502.
10. Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N. 1998. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat 12:245-254.
11. Fukao T, Scriver CR, Kondo N. 2001. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab 72:109-114.
12. He Y, Armanious MK, Thomas MJ, Cress WD. 2000. Identification of E2F-3B, an alternative form of E2F-3 lacking a conserved N-terminal region. Oncogene 19:3422-3433.
13. John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR. 1989. Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet 45:905-909.
14. Kozak M. 1986. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44:283-292.
15. Kozak M. 1987. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl Acids Res 15:8125-8148.
16. Kozak M. 1989. Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems. Mol Cell Biol 9:5073-5080.
17. Kozak M. 1997. Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6. EMBO J 16:2482-2492.
18. Mehdi H, Ono E, Gupta KC. 1990. Initiation of translation at CUG, GUG, and ACG codons in mammalian cells. Gene 91:173-178.
19. Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Del Kaloustian V, Kaiser-Kupfer M, Valle D. 1988. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 81:630-633.
20. Mitchell GA, Fukao T. 2001. Inborn errors of ketone body catabolism. Chapter 102. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Metabolic and molecular bases of inherited disease. 8th ed. NewYork: McGraw-Hill. p 2327-2356.
21. Moi P, Cash FE, Leibhaber SA, Cao A, Pirastu M. 1987. An initiation codon mutation (AUG-GUG) of the human alpha 1-globin gene: structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest 80:1416-1421.
22. Muralidhar S, Becerra SP, Rose JA. 1994. Site-directed mutagenesis of adeno-associated virus type 2 structural protein initiation codons: effects on regulation of synthesis and biological activity. J Viol 68:170-176.
23. Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song XQ, Naiki Y, Kohno Y, Ugarte M, Kondo N. 2001. A novel single-base substitution (380C>T) that activates a 5-base down-stream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab 72:115-121.
24. Niwa H, Yamamura K, Miyazaki J. 1991. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-199.
25. Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH. 1987. An alpha-globin gene initiation codon mutation in a black family with HbH disease. Blood 70:729-732.
26. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA. 1990. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New Eng J Med 322:1412-1419.
27. Peabody DS. 1987. Translation initiation at an ACG triplet in mammalian cells. J Biol Chem 262:11847-11851.
28. Peabody DS. 1989. Translation initiation at non-AUG triplets in mammalian cells. J Biol Chem 264:5031-5035.
29. Pirastu M, Saglio G, Chang JC, Cao A, Kan YW. 1984. Initiation codon mutation as a cause of alpha-thalassemia. J Biol Chem 259:12315-12317.
30. Rendtorff ND, Frodin M, Attie-Bitach T, Vekemans M, Tommerup N. 2001. Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. Genomics 71:40-52.
31. Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T, Osame M. 2000. A novel mutation of desert hedgehog in a patient with 46, XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67:1302-1305.
32. Urasawa R, Haga N, Iwatani T, Kubo T, Imai T, Komiyama A, Shinka T, Kuhara T, Fukao T. 1999. An infant case of beta-ketothiolase deficiency presented with acute coma [in Japanese]. J Jpn Ped Soc 103:849-852.