Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production

Matrix Biology

Volumn 17, Issue 5, 1998, Pages 361-369

  Rossi, Antonio ^a,b   Kaitila, Ilkka ^c   Wilcox, William R ^d   Rimoin, David L ^d   Steinmann, Beat ^b   Cetta, Giuseppe ^a   Superti Furga, Andrea ^b,e  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Achondrogenesis 1B; Atelosteogenesis type 2; Diastrophic dysplasia; Proteoglycan; Sulfate transporter

Indexed keywords

CARRIER PROTEIN; CHONDROITIN ABC LYASE; DISACCHARIDE; GLUCOSAMINE; PROTEOCHONDROITIN SULFATE; PROTEOGLYCAN; SULFATE; SULFUR 35; TRITIUM;

ARTICLE; CARTILAGE; CELL CULTURE; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FETUS; FIBROBLAST CULTURE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; ISOTOPE LABELING; NEWBORN; PRIORITY JOURNAL; SULFATION;

TRITIUM;

EID: 0031790548     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(98)90088-9     Document Type: Article

References (24)

1. Bitter, T. and Muir, H.M.: A modified uronic acid carbazole reaction. Anal. Biochem. 4: 330-334, 1962.
2. Coster, L., Hernnas, J. and Malmstrom, A.: Biosynthesis of dermatan sulfate proteoglycans. Biochem. J. 276: 533-539, 1991.
3. 2- and sulfur-containing amino acids as sources for macromolecular sulfation. Am. J. Physiol. 260: L450-L456, 1991.
4. Esko, J.D., Elgavish, A., Prasthofer, T., Taylor, W.H. and Weinke, J.L.: Sulfate transport-deficient mutants of chinese hamster ovary cells. J. Biol. Chem. 261: 15725-15733, 1986.
5. Harper, G.S., Hascall, V.C., Yanagishita, M. and Gahl, W.A.: Proteoglycan synthesis in normal and Lowe syndrome fibroblasts. J. Biol. Chem. 262: 5637-5643, 1987.
6. Hästbacka, J., de la Chapelle, A., Mahtani, M.M., Clines, G., Reeve-Daly, M.P., Daly, M., Hamilton, B.A., Kusumi, K., Trivedi, B., Weaver, A., Coloma, A., Lovett, M., Buckler, A., Kaitila, I. and Lander, E.S.: The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-linkage disequilibrium mapping. Cell 78: 1073-1087, 1994.
7. Hastbacka, J., Superti-Furga, A., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. and Lander, E.S.: Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am. J. Hum. Genet. 58: 255-262, 1996.
8. Humphries, D.E., Silbert, C.K. and Silbert, J.E.: Sulfation by cultured cells. Biochem. J. 252: 305-308, 1988.
9. Imai, Y., Yanagishita, M. and Hascall, V.: Measurement of contribution from intracellular cysteine to sulfate in phospho-adenosine phosphosulfate in rat ovarian granulosa cells, Arch. Biochem. Biophys. 312: 392-400, 1994.
10. Keller, J.M. and Keller, K.M.: Amino acid sulfur as a source of sulfate for sulfated proteoglycans produced by Swiss mouse 3T3 cells, Biochim. Biophys. Acta 926: 139-144, 1987.
11. Rossi, A., Bonaventure, J., Delezoide, A-L., Cetta, G. and Superti-Furga, A.: Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for a L483P substitution in the diastrophic dysplasia sulfate transporter. J. Biol. Chem. 271: 18456-18464, 1996a.
12. Rossi, A., Bonaventure, J., Delezoide, A-L., Superti-Furga, A. and Cetta, G.: Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. Eur. J. Biochem. 248: 741-747, 1997.
13. Rossi, A., van der Harten, H.J., Beemer, F.A., Kleijer, W.J., Gitzelman, R., Steinmann, B. and Superti-Furga, A.: Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum. Genet. 98: 657-661, 1996b.
14. Roughley, P.J. and White, R.J.: Age-related changes in the structure of the proteoglycan subunits from human articular cartilage. J. Biol. Chem. 255:217-224, 1980.
15. Roughley, P.J., White, R.J. and Giant, T.T.: The structure and abundance of cartilage proteoglycans during early development of the human fetus. Pediatr. Res. 22: 409-413, 1987.
16. 3H]glucosamine by endogenous hexosamine from glucose and other sources. Arch. Biochem. Biophys. 268: 393-397, 1989.
17. Silbert, J.E., Palmer, M.E., Humphries, D.E. and Silbert, C.K.: Formation of dermatan sulfate by cultured human skin fibroblasts. J. Biol. Chem. 261: 13397-13400, 1986.
18. Sobue, M., Habuchi, H., Ito, K., Yonekura, H., Oguri, K., Sakurai, K., Kamohara, S., Ueno, Y., Noyori, R. and Suzuki, S.: β-D-xylosides and their analogues as artificial initiators of glycosaminoglycan chain synthesis. Biochem. J. 241: 591-601, 1987.
19. Sobue, M., Takeuchi, J., Ito, K., Kimata, K. and Suzuki, S.: Effect of environmental sulfate concentration on the synthesis of low and high sulfated chondroitin sulfates by chick embryo cartilage. J. Biol. Chem. 253: 6190-6196, 1978.
20. Superti-Furga, A.: A defect in the metabolic activation of sulfate in a patient with achondrogenesis type 1B. Am. J. Hum. Genet.. 55: 1137-1145, 1994.
21. Superti-Furga, A., Hästbacka, J., Wilcox, W.R., Cohn, D.H., van der Harten, H.J., Rossi, A., Blau, N., Rimoin, D.L., Steinmann, B., Lander, E.S. and Gitzelmann, R.: Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat. Genet. 12: 100-102, 1996a.
22. Superti-Furga, A., Rossi, A., Steinmann, B. and Gitzelmann, R.: A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am. J. Med. Genet. 63: 144-147, 1996b.
23. Yanagishita, M., Salustri, A. and Hascall, V.C.: Specific activity of radiolabeled hexosamines in metabolic labeling experiments. Meth. Enzymol 179: 435-445, 1989.
24. Yoshida, K., Miyauchi, S., Kikuchi, H., Tawada, A. and Tokuyasu, K.: Analysis of unsaturated disaccharides from glycosaminoglycuronan by high-performance liquid chromatography. Anal. Biochem. 177: 327-332, 1989.