A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2155-2164

  Simmons, Andrew D ^a   Musy, Maurice M ^a   Lopes, Carla S ^a   Hwang, Larn Yuan ^b   Yang, Ya Ping ^a   Lovett, Michael ^a,c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EXT PROTEIN; GLYCOSYLTRANSFERASE; PROTEIN; TRANSFERASE; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAENORHABDITIS ELEGANS; CARBOXY TERMINAL SEQUENCE; CHONDROSARCOMA; CONSENSUS SEQUENCE; GENE MUTATION; GENE SEQUENCE; GLYCOSAMINOGLYCAN METABOLISM; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HUMAN CELL; MALIGNANT TRANSFORMATION; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RAT; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DNA PRIMERS; EXOSTOSES, MULTIPLE HEREDITARY; GLYCOSYLTRANSFERASES; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PROTEINS; RATS; SEQUENCE HOMOLOGY, AMINO ACID; TWO-HYBRID SYSTEM TECHNIQUES;

ANIMALIA; CAENORHABDITIS ELEGANS; ERINACEIDAE; VERTEBRATA;

EID: 0032718876     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2155     Document Type: Article

References (42)

1. Solomon, L. (1964) Hereditary multiple exostosis. Am. J. Hum. Genet., 16, 351-363.
2. Hennekam, R.C. (1991) Hereditary multiple exostoses. J. Med. Genet., 28, 262-266.
3. Wicklund, C.L., Pauli, R.M., Johnston, D. and Hecht, J.T. (1995) Natural history study of hereditary multiple exostoses. Am. J. Med. Genet., 55, 43-46.
4. Le Merrer, M., Legeai-Mallet, L., Jeannin, P.M., Horsthemke, B., Schinzel, A., Plauchu, H., Toutain, A., Achard, F., Munnich, A. and Maroteaux, P. (1994) A gene for hereditary multiple exostoses maps to chromosome 19p. Hum. Mol. Genet., 3, 717-722.
5. Cook, A., Raskind, W., Blanton, S.H., Pauli, R.M., Gregg, R.G., Francomano, C.A., Puffenberger, E., Conrad, E.U., Schmale, G., Schellenberg, G. et al. (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am. J. Hum. Genet., 53, 71-79.
6. Wu, Y.Q., Heutink, P., de Vries, B.B., Sandkuijl, L.A., van den Ouweland, A.M., Niermeijer, M.F., Galjaard, H., Reyniers, E., Willems, P.J. and Halley, D.J. (1994) Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum. Mol. Genet., 3, 167-171.
7. Wuyts, W., Ramlakhan, S., Van Hul, W., Hecht, J.T., van den Ouweland, A.M., Raskind, W.H., Hofstede, F.C., Reyniers, E., Wells, D.E., de Vries, B. et al. (1995) Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am. J. Hum. Genet., 57, 382-387.
8. Ahn, J., Ludecke, H.J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B. and Wells, D.E. (1995) Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet., 11, 137-143.
9. Stickens, D., Clines, G., Burbee, D., Ramos, P., Thomas, S., Hogue, D., Hecht, J.T., Lovett, M. and Evans, G.A. (1996) The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genet., 14, 25-32.
10. Blanton, S.H., Hogue, D., Wagner, M., Wells, D., Young, I.D. and Hecht, J.T. (1996) Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. Am. J. Med. Genet., 62, 150-159.
11. Wise, C.A., Clines, G.A., Massa, H., Trask, B.J. and Lovett, M. (1997) Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res., 7, 10-16.
12. Wuyts, W., Van Hul, W., Hendrickx, J., Speleman, F., Wauters, J., De Boulle, K., Van Roy, N., Van Agtmael, T., Bossuyt, P. and Willems, P.J. (1997) Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur. J. Hum. Genet., 5, 382-389.
13. Van Hul, W., Wuyts, W., Hendrickx, J., Speleman, F., Wauters, J., De Boulle, K., Van Roy, N., Bossuyt, P. and Willems, P.J. (1998) Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics, 47, 230-237.
14. Hecht, J.T., Hogue, D., Strong, L.C., Hansen, M.F., Blanton, S.H. and Wagner, M. (1995) Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am. J. Hum. Genet., 56, 1125-1131.
15. Raskind, W.H., Conrad, E.U., Chansky, H. and Matsushita, M. (1995) Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am. J. Hum. Genet., 56, 1132-1139.
16. McCormick, C., Leduc, Y., Martindale, D., Mattison, K., Esford, L.E., Dyer, A.P. and Tufaro, F. (1998) The putative tumour suppressor ext1 alters the expression of cell-surface heparan sulfate. Nature Genet., 19, 158-161.
17. Lind, T., Tufaro, F., McCormick, C., Lindahl, U. and Lidholt, K. (1998) The putative tumor suppressors Ext1 and Ext2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J. Biol. Chem., 273, 26265-26268.
18. Kitagawa, H., Shimakawa, H. and Sugahara, K. (1999) The tumor suppressor EXT-like gene EXTL2 encodes an 1,4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region: the key enzyme for the chain initiation of heparan sulfate. J. Biol. Chem., 274, 13933-13937.
19. Hagen, F.K. and Nehrke, K. (1998) cDNA cloning and expression of a family of UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase sequence homologs from Caenorhabditis elegans. J. Biol. Chem., 273, 8268-8277.
20. Hagen, F.K., Hagen, K.G., Beres, T.M., Balys, M.M., VanWuyckhuyse, B.C. and Tabak, L.A. (1997) cDNA cloning and expression of a novel UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase. J. Biol. Chem., 272, 13843-13848.
21. Bellaiche, Y., The, I. and Perrimon, N. (1998) Tout-velu is a Drosophila homologue of the putative tumour suppressor ext-1 and is needed for hh diffusion. Nature, 394, 85-88.
22. Vortkamp, A., Lee, K., Lanske, B., Segre, G.V., Kronenberg, H.M. and Tabin, C.J. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science, 273, 613-622.
23. Fields, S. and Song, O. (1989) A novel genetic system to detect protein-protein interactions. Nature, 340, 245-246.
24. Chen, C.F., Chen, Y., Dai, K., Chen, P.L., Riley, D.J. and Lee, W.H. (1996) A new member of the hsp90 family of molecular chaperones interacts with the retinoblastoma protein during mitosis and after heat shock. Mol. Cell. Biol., 16, 4691-4699.
25. Song, H.Y., Dunbar, J.D., Zhang, Y.X., Guo, D. and Donner, D.B. (1995) Identification of a protein with homology to hsp90 that binds the type 1 tumor necrosis factor receptor. J. Biol. Chem., 270, 3574-3581.
26. Hagen, K.G., Hagen, F.K., Balys, M.M., Beres, T.M., Van Wuyckhuyse, B. and Tabak, L.A. (1998) Cloning and expression of a novel, tissue specifically expressed member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family. J. Biol. Chem., 273, 27749-27754.
27. Raskind, W.H., Conrad, E.R., Matsushita, M., Wijsman, E.M., Wells, D.E., Chapman, N., Sandell, L.J., Wagner, M. and Houck, J. (1998) Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum. Mutat., 11, 231-239.
28. Saito, T., Seki, N., Yamauchi, M., Tsuji, S., Hayashi, A., Kozuma, S. and Hori, T. (1998) Structure, chromosomal location and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem. Biophys. Res. Commun., 243, 61-66.
29. Wuyts, W., Van Hul, W., De Boulle, K., Hendrickx, J., Bakker, E., Vanhoenacker, F., Mollica, F., Ludecke, H.J., Sayli, B.S., Pazzaglia, U.E., Mortier, G., Hamel, B., Conrad, E.U., Matsushita, M., Raskind, W.H. and Willems, P.J. (1998) Mutations in the EXTI and EXT2 genes in hereditary multiple exostoses. Am. J. Hum. Genet., 62, 346-354.
30. Tsan, J.T., Wang, Z.W., Jin, Y., Hwang, L.-Y., Bash, R.O. and Baer, R. (1997) Mammalian cells as hosts for two-hybrid studies of protein-protein interaction. In Bartel, P.L. and Fields, S. (eds), Mammalian Cells as Hosts for Two-hybrid Studies of Protein-Protein Interaction. Oxford University Press, New York, NY, pp. 217-233.
31. Lind, T., Lindahl, U. and Lidholt, K. (1993) Biosynthesis of heparin/ heparan sulfate: identification of a 70-kDa protein catalyzing both the D-glucuronosyl-and the N-acetyl-D-glucosaminyltransferase reactions. J. Biol. Chem., 268, 20705-20708.
32. Bennett, E.P., Hassan, H. and Clausen, H. (1996) cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3. J. Biol. Chem., 271, 17006-17012.
33. Wuyts, W., Van Hul, W., Wauters, J., Nemtsova, M., Reyniers, E., Van Hul, E.V., De Boulle, K., de Vries, B.B., Hendrickx, J., Herrygers, I., Bossuyt, P., Balemans, W., Fransen, E., Vits, L., Coucke, P., Nowak, N.J., Shows, T.B., Mallet, L., van den Ouweland, A.M., McGaughran, J., Halley, D.J. and Willems, P.J. (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Mol. Genet., 5, 1547-1557.
34. White, T., Bennett, E.P., Takio, K., Sorensen, T., Bonding, N. and Clausen, H. (1995) Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase. J. Biol. Chem., 270, 24156-24165.
35. Bennett, E.P., Hassan, H., Mandel, U., Mirgorodskaya, E., Roepstorff, P., Burchell, J., Taylor-Papadimitriou, J., Hollingsworth, M.A., Merkx, G., van Kessel, A.G., Eiberg, H., Steffensen, R. and Clausen, H. (1998) Cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeat. J. Biol. Chem., 273, 30472-30481.
36. Rottger, S., White, J., Wandall, H.H., Olivo, J.C., Stark, A., Bennett, E.P., Whitehouse, C., Berger, E.G., Clausen, H. and Nilsson, T. (1998) Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. J. Cell Sci., 111, 45-60.
37. Chen, P.L., Riley, D.J. and Lee, W.H. (1995) The retinoblastoma protein as a fundamental mediator of growth and differentiation signals (Review). Crit. Rev. Eukaryot. Gene Expr., 5, 79-95.
38. Hecht, J.T., Hogue, D., Wang, Y., Blanton, S.H., Wagner, M., Strong, L.C., Raskind, W., Hansen, M.F. and Wells, D. (1997) Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet., 60, 80-86.
39. Smith, D.B. and Johnson, K.S. (1988) Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase. Gene, 67, 31-40.
40. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd Edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
41. Sadowski, I., Bell, B., Broad, P. and Hollis, M. (1992) GAL4 fusion vectors for expression in yeast or mammalian cells. Gene, 118, 137-141.
42. Wu, L.C., Wang, Z.W., Tsan, J.T., Spillman, M.A., Phung, A., Xu, X.L., Yang, M.C., Hwang, L.Y., Bowcock, A.M. and Baer, R. (1996) Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nature Genet., 14, 430-440.