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Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
J Clin Invest 1990; 86(6):2086-92JCI

Abstract

Complementary DNAs encoding the precursor of human hepatic mitochondrial acetoacetyl-CoA thiolase (T2) (EC 2.3.1.9) were cloned and sequenced. The cDNA inserts in these clones were 1,518 bases in length when overlapped, and encoded the 427-amino acid precursor of this enzyme (45,199 mol wt). This amino acid sequence included a 33-residue leader peptide moiety and a 394-amino acid subunit of the mature enzyme (41,385 mol wt). The T2 gene expression in fibroblasts from four patients with 3-ketothiolase deficiency was analyzed by Northern blotting. The T2 mRNA in all four cell lines had the same 1.7 kb as that of the control. However, the amounts of T2 mRNA differed: the content was reduced in two cell lines (cases 1 and 3), whereas it was within a normal range in others (cases 2 and 4). Pulse labeling followed by subcellular fractionation revealed that the T2 proteins in the fibroblasts from these patients are present in the mitochondria. These results suggest that different mechanisms are involved in the enzyme defects in the four patients.

Authors+Show Affiliations

Department of Pediatrics, Gifu University School of Medicine, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1979337

Citation

Fukao, T, et al. "Molecular Cloning and Sequence of the Complementary DNA Encoding Human Mitochondrial Acetoacetyl-coenzyme a Thiolase and Study of the Variant Enzymes in Cultured Fibroblasts From Patients With 3-ketothiolase Deficiency." The Journal of Clinical Investigation, vol. 86, no. 6, 1990, pp. 2086-92.
Fukao T, Yamaguchi S, Kano M, et al. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J Clin Invest. 1990;86(6):2086-92.
Fukao, T., Yamaguchi, S., Kano, M., Orii, T., Fujiki, Y., Osumi, T., & Hashimoto, T. (1990). Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. The Journal of Clinical Investigation, 86(6), pp. 2086-92.
Fukao T, et al. Molecular Cloning and Sequence of the Complementary DNA Encoding Human Mitochondrial Acetoacetyl-coenzyme a Thiolase and Study of the Variant Enzymes in Cultured Fibroblasts From Patients With 3-ketothiolase Deficiency. J Clin Invest. 1990;86(6):2086-92. PubMed PMID: 1979337.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. AU - Fukao,T, AU - Yamaguchi,S, AU - Kano,M, AU - Orii,T, AU - Fujiki,Y, AU - Osumi,T, AU - Hashimoto,T, PY - 1990/12/1/pubmed PY - 1990/12/1/medline PY - 1990/12/1/entrez SP - 2086 EP - 92 JF - The Journal of clinical investigation JO - J. Clin. Invest. VL - 86 IS - 6 N2 - Complementary DNAs encoding the precursor of human hepatic mitochondrial acetoacetyl-CoA thiolase (T2) (EC 2.3.1.9) were cloned and sequenced. The cDNA inserts in these clones were 1,518 bases in length when overlapped, and encoded the 427-amino acid precursor of this enzyme (45,199 mol wt). This amino acid sequence included a 33-residue leader peptide moiety and a 394-amino acid subunit of the mature enzyme (41,385 mol wt). The T2 gene expression in fibroblasts from four patients with 3-ketothiolase deficiency was analyzed by Northern blotting. The T2 mRNA in all four cell lines had the same 1.7 kb as that of the control. However, the amounts of T2 mRNA differed: the content was reduced in two cell lines (cases 1 and 3), whereas it was within a normal range in others (cases 2 and 4). Pulse labeling followed by subcellular fractionation revealed that the T2 proteins in the fibroblasts from these patients are present in the mitochondria. These results suggest that different mechanisms are involved in the enzyme defects in the four patients. SN - 0021-9738 UR - https://www.unboundmedicine.com/medline/citation/1979337/Molecular_cloning_and_sequence_of_the_complementary_DNA_encoding_human_mitochondrial_acetoacetyl_coenzyme_A_thiolase_and_study_of_the_variant_enzymes_in_cultured_fibroblasts_from_patients_with_3_ketothiolase_deficiency_ L2 - https://doi.org/10.1172/JCI114946 DB - PRIME DP - Unbound Medicine ER -