Targeting of alanine: Glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1

Annals of the New York Academy of Sciences

Volumn 804, Issue , 1996, Pages 477-490

  Danpure, Christopher J ^b   Jennings, Patricia R ^b   Leiper, James M ^b   Lumb, Michael J ^b   Oatey, Paru B ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; GLYCOLIC ACID; OXALIC ACID;

AMINO TERMINAL SEQUENCE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 2Q; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE FREQUENCY; GENE MUTATION; HUMAN; MITOCHONDRION; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; OXALOSIS 1; PEROXISOME;

EID: 0030477539     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1996.tb18638.x     Document Type: Conference Paper

References (38)

1. DANPURE, C. J. & P. E. PURDUE. 1995. Primary hyperoxaluria. In The Metabolic and Molecular Bases of Inherited Disease, 7th ed. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle, Eds.: 2385-2424. McGraw-Hill. New York.
2. BARRATT, T. M. & C. J. DANPURE. 1994. Hyperoxaluria. In Pediatric Nephrology, 3rd ed. M. A. Holliday, T. M. Barratt & E. D. Avner, Eds.: 557-572. Williams & Wilkins, Baltimore, MD.
3. DANPURE, C. J. & L. H. SMITH. 1996. The primary hyperoxalurias. In Kidney Stones: Medical and Surgical Management. F. L. Coe, M. J. Favus, C. Y. Pak, J. Parks & G. Preminger, Eds.: 859-881. Lippincott-Raven. Philadelphia, PA.
4. DANPURE, C. J., P. R. JENNINGS, P. FRYER, P. E. PURDUE & J. ALLSOP. 1994. Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity. J. Inherit. Metab. Dis. 17: 487-499.
5. DANPURE, C. J. & G. RUMSBY. 1995. Enzymology and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management. In Calcium Oxalate in Biological Systems. S. R. Khan, Ed.: 189-205. CRC Press. Boca Raton, FL.
6. COOPER, P. J., C. J. DANPURE, P. J. WISE & K. M. GUTTRIDGE. 1988. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. J. Histochem. Cytochem. 36: 1285-1294.
7. PURDUE, P. E., Y. TAKADA & C. J. DANPURE. 1990. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J. Cell Biol. 111: 2341-2351.
8. DANPURE, C. J., P. J. COOPER, P. J. WISE & P. R. JENNINGS. 1989. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: Peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J. Cell Biol. 108: 1345-1352.
9. TAKADA, Y. & T. NOGUCHI. 1982. Subcellular distribution, and physical and immunological properties of hepatic alanine: glyoxylate aminotransferase isoenzymes in different mammalian species. Comp. Biochem. Physiol. (B) 72: 597-604.
10. PURDUE, P. E., M. J. LUMB, M. FOX, G. GRIFFO, C. HAMON BENAIS, S. POVEY & C. J. DANPURE. 1991. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics 10: 34-42.
11. TAKADA, Y., N. KANEKO, H. ESUMI, P. E. PURDUE & C. J. DANPURE. 1990. Human peroxisomal L-alanine:glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem. J. 268: 517-520.
12. SUBRAMANI, S. 1993. Protein import into peroxisomes and biogenesis of the organelle. Annu. Rev. Cell Biol. 9: 445-478.
13. GOULD, S. J., G. A. KELLER, N. HOSKEN, J. WILKINSON & S. SUBRAMANI. 1989. A conserved tripeptide sorts proteins to peroxisomes. J. Cell Biol. 108: 1657-1664.
14. SWINKELS, B. W., S. J. GOULD & S. SUBRAMANI. 1992. Targeting efficiencies of various permutations of the consensus C-terminal tripeptide peroxisomal targeting signal. FEBS Lett. 305: 133-136.
15. VAN DER LEIJ, I., M. M. FRANSE, Y. ELGERSMA, B. DISTEL & H. F. TABAK. 1993. PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 90: 11782-11786.
16. BROCARD, C., F. KRAGLER, M. M. SIMON, T. SCHUSTER & A. HARTIG. 1994. The tetratricopeptide repeat-domain of the PAS10 protein of Saccharomyces cerevisiae is essential for binding the peroxisomal targeting signal-SKL. Biochem. Biophys. Res. Commun. 204: 1016-1022.
17. MCCOLLUM, D., E. MONOSOV & S. SUBRAMANI. 1993. The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells - the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family. J. Cell Biol. 121: 761-774.
18. DODT, G., N. BRAVERMAN, C. WONG, A. MOSER, H. W. MOSER, P. WATKINS, D. VALLE & S. J. GOULD. 1995. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet. 9: 115-125.
19. SWINKELS, B. W., S. J. GOULD, A. G. BODNAR, R. A. RACHUBINSKI & S. SUBRAMANI. 1991. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO J. 10: 3255-3262.
20. OSUMI, T., T. TSUKAMOTO, S. HATA, S. YOKOTA, S. MIURA, Y. FUJIKI, M. HIJIKATA, S. MIYAZAWA & T. HASHIMOTO. 1991. Amino-terminal presequence of the precursor of peroxisomal 3-ketoacyl-CoA thiolase is a cleavable signal peptide for peroxisomal targeting. Biochem. Biophys. Res. Commun. 181: 947-954.
21. DE HOOP, M. J. & G. AB. 1992. Import of proteins into peroxisomes and other microbodies. Biochem. J. 286: 657-669.
22. OSUMI, T., T. TSUKAMOTO & S. HATA. 1992. Signal peptide for peroxisomal targeting: Replacement of an essential histidine residue by certain amino acids converts the aminoterminal presequence of peroxisomal 3-ketoacyl-CoA thiolase to a mitochondrial signal peptide. Biochem. Biophys. Res. Commun. 186: 811-818.
23. MARZIOCH, M., R. ERDMANN, M. VEENHUIS & W. H. KUNAU. 1994. PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes. EMBO J. 13: 4908-4918.
24. MOTLEY, A., M. J. LUMB, P. B. OATEY, P. R. JENNINGS, P. A. DE ZOYSA, R. J. WANDERS, H. F. TABAK & C. J. DANPURE. 1995. Mammalian alanine:glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisometo-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. J. Cell Biol. 131: 95-109.
25. PURDUE, P. E., M. J. LUMB & C. J. DANPURE. 1992. Molecular evolution of alanine:glyoxylate aminotransferase 1 intracellular targeting. Analysis of the marmoset and rabbit genes. Eur. J. Biochem. 207: 757-766.
26. ODA, T., H. MIYAJIMA, Y. SUZUKI & A. ICHIYAMA. 1987. Nucleotide sequence of the cDNA encoding the precursor for mitochondrial serine:pyruvate aminotransferase of rat liver. Eur. J. Biochem. 168: 537-542.
27. LUMB, M. J., P. E. PURDUE & C. J. DANPURE. 1994. Molecular evolution of alanine/glyoxylate aminotransferase 1 intracellular targeting: analysis of the feline gene. Eur. J. Biochem. 221: 53-62.
28. PURDUE, P. E., J. ALLSOP, G. ISAYA, L. E. ROSENBERG & C. J. DANPURE. 1991. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc. Natl. Acad. Sci. USA 88: 10900-10904.
29. DANPURE, C. J. 1993. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie 75: 309-315.
30. DANPURE, C. J., P. FRYER, S. GRIFFITHS, K. M. GUTTRIDGE, P. R. JENNINGS, J. ALLSOP, A. B. MOSER, S. NAIDU, H. W. MOSER, M. MACCOLLIN & D. C. DEVIVO. 1994. Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism. J. Inher. Metab. Dis. 17: 27-40.
31. Glick, B. & G. Schatz. 1991. Import of proteins into mitochondria. Annu. Rev. Genet. 25: 21-44.
32. HANNAVY, K., S. ROSPERT & G. SCHATZ. 1993. Protein import into mitochondria: A paradigm for the translocation of polypeptides across membranes. Curr. Opin. Cell Biol. 5: 694-700.
33. NEUPERT, W. & N. PFANNER. 1993. Roles of molecular chaperones in protein targeting to mitochondria. Philos. Trans. R. Soc. Lond. Biol. 339: 355-361.
34. MCNEW, J. A. & J. M. GOODMAN. 1994. An oligomeric protein is imported into peroxisomes in vivo. J. Cell Biol. 127: 1245-1257.
35. GLOVER, J. R., D. W. ANDREWS & R. A. RACHUBINSKI. 1994. Saccharomyces cerevisiae peroxisomal thiolase is imported as a dimer. Proc. Natl. Acad. Sci. USA 91: 10541-10545.
36. DANPURE, C. J., K. M. GUTTRIDGE, P. FRYER, P. R. JENNINGS, J. ALLSOP & P. E. PURDUE. 1990. Subcellular distribution of hepatic alanine:glyoxylate aminotransferase in various mammalian species. J. Cell Sci. 97: 669-678.
37. DANPURE, C. J., P. FRYER, P. R. JENNINGS, J. ALLSOP, S. GRIFFITHS & A. CUNNINGHAM. 1994. Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and mitochondrial targeting. A survey of it subcellular distribution in the livers of various representatives of the classes Mammalia, Aves and Amphibia. Eur. J. Cell Biol. 64: 295-313.
38. LEIPEK, J. M., P. B. OATEY & C. J. DANPURE. 1996. Inhibition of alanine:glyoxylate amino-transferase dimerization is a pro-requisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. J. Cell Biol. In press.