Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1312-1319

  Carbone, Mary Anna ^a,b   MacKay, Nevi ^b   Ling, Mingfu ^b   Cole, David E C ^c   Douglas, Cheryl ^b   Rigat, Brigitte ^b   Feigenbaum, Annette ^b   Clarke, Joe T R ^b   Haworth, James C ^d   Greenberg, Cheryl R ^d   Seargeant, Lorne ^e   Robinson, Brian H ^a,b,f  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c Banting and Best Diabetes Centre   (Canada)

^d UNIVERSITY OF MANITOBA   (Canada)

^e HEALTH SCIENCES CENTRE   (Canada)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; ACETOACETIC ACID; LACTIC ACID; PYRUVATE CARBOXYLASE; PYRUVIC ACID;

AMERICAN INDIAN; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; EXON; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INFANT; INTRON; MALE; MISSENSE MUTATION; MOLECULAR CLONING; NEWBORN; PRIORITY JOURNAL; PROTEIN DOMAIN; PYRUVATE CARBOXYLASE DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 17344363493     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301884     Document Type: Article

References (32)

1. Breathnach R, Chambon P (1981) Organization and expression of eukaryotic split genes coding for proteins. Annu Rev Biochem 50:349-383
2. Crabtree B, Higgins SJ, Newsholme EA (1972) The activities of pyruvate carboxylase, phosphoenolpyruvate carboxylase and fructose diphosphatase in muscles from vertebrates and invertebrates. Biochem J 130:391-396
3. Freytag SO, Collier KJ (1984) Molecular cloning of a cDNA for human pyruvate carboxylase: structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes. J Biol Chem 259:12831-12837
4. Jitrapakdee S, Booker GW, Cassady AI, Wallace JC (1997) The rat pyruvate carboxylase gene structure: alternate promoters generate multiple transcripts with the 5′-end heterogeneity. J Biol Chem 272:20522-20530
5. Jitrapakdee S, Walker ME, Wallace JC (1996) Identification of novel alternatively spliced pyruvate carboxylase mRNAs with divergent 5′-untranslated regions which are expressed in a tissue-specific manner. Biochem Biophys Res Commun 223:695-700
6. 2-). J Biol Chem 242:1983-1987
7. Keech DB, Utter MF (1963) Pyruvate carboxylase II properties. J Biol Chem 238:2609-2613
8. Kumar GK, Bahler CR, Wood HG, Merrifield RB (1982) The amino acid sequences of the biotinyl subunit essential for the association of transcarboxylase. J Biol Chem 257: 13828-13834
9. Lamhonwah AM, Quan F, Gravel RA (1987) Sequence homology around the biotin-binding site of human propionyl-CoA carboxylase and pyruvate carboxylase. Arch Biochem Biophys 254:631-636
10. Lee SH, Davis EJ (1979) Carboxylation and decarboxylation reactions: anaplerotic flux and removal of citrate cycle intermediates in skeletal muscle. J Biol Chem 254:420-430
11. Li SJ, Cronan JE (1992) The genes encoding the two carboxyltransferase subunits of Escherichia coli acetyl-CoA carboxylase. J Biol Chem 267:16841-16847
12. Lim F, Morris CP, Occhiodoro F, Wallace JC (1988) Sequence and domain structure of yeast pyruvate carboxylase. J Biol Chem 263:11493-11497
13. MacKay N, Rigat B, Douglas C, Chen HS, Robinson BH (1994) cDNA cloning of human kidney pyruvate carboxylase. Biochem Biophys Res Commun 202:1009-1014
14. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
15. Obermayer M, Lynen F (1976) Structure of biotin enzymes. Trends Biochem Sci 1:169-171
16. Robinson BH (1989) Lacticacidemia: biochemical, clinical, and genetic considerations. In: Harris H, Hirschhorn K (eds) Advances in human genetics. Vol 18. Plenum Publishing, New York, pp 151-179
17. Robinson BH (1995) Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase). In: Scriver C, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited diseases. McGraw-Hill, New York, pp 1479-1499
18. 35S-streptavidin labeling, and northern blotting with a cloned cDNA probe. Am J Hum Genet 40:50-59
19. 3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency. J Biol Chem 258:6660-6664
20. Robinson BH, Oei J, Sherwood WG, Applegarth D, Wong L, Haworth J, Goodyer P, et al (1984) The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 36:283-294
21. Robinson BH, Toone JR, Petrova-Benedict R, Dimmick JE, Oei J, Applegarth DA (1985) Prenatal diagnosis of pyruvate carboxylase deficiency. J Prenat Diagn 5:67-71
22. Samols D, Thornton CG, Murtif VL, Kumar GK, Haase FC, Wood HG (1988) Evolutionary conservation among biotin enzymes. J Biol Chem 263:6461-6464
23. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463-5467
24. Shank RP, Bennett GS, Freytag SO, Graham LMC (1985) Pyruvate carboxylase: an astrocyte-specific enzyme implicated in the replenishment of amino acid neurotransmitter pools. Brain Res 329:364-367
25. Toh H, Kondo H, Tanabe T (1993) Molecular evolution of biotin-dependent carboxylases. Eur J Biochem 215:687-696
26. Utter MF, Barden RE, Taylor BL (1975) Pyruvate carboxylase: an evaluation of the realtionships between structure and mechanism and between structure and catalytic activity. Adv Enzymol Relat Areas Mol Biol 42:1-72
27. Utter MF, Keech DB (1963) Pyruvate carboxylase I: nature of the reaction. J Biol Chem 283:2603-2608
28. Van Coster RN, Fernhoff PM, DeVivo DC (1991) Pyruvate carboxylase deficiency: a benign variant with normal development. Pediatr Res 30:1-4
29. Walter P, Anabitarte M (1973) Intracellular distribution of pyruvate carboxylase in livers of normal and cortisol treated rats. FEBS Lett 37:170-173
30. Wexler ID, Du Y, Lisgaris MV, Mandal SK, Freytag SO, Yang B-S, Liu T-C, et al (1994) Primary amino acid sequence and structure of human pyruvate carboxylase. Biochim Biophys Acta 1227:46-52
31. Wood HG, Barden RE (1977) Biotin enzymes. Annu Rev Biochem 46:385-413
32. Zhang J, Xia WL, Brew K, Ahmad F (1993) Adipose pyruvate carboxylase: amino acid sequence and domain structure deduced from cDNA sequencing. Proc Natl Acad Sci USA 90: 1766-1770