Maroteaux-Lamy syndrome: Five novel mutations and their structural localization

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1453, Issue 2, 1999, Pages 185-192

  Villani, G R D ^a   Balzano, N ^a   Vitale, D ^a   Saviano, M ^a   Pavone, V ^a   Di Natale, P ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Mucopolysaccharidosis type VI; Mutation analysis

Indexed keywords

ARYLSULFATASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME STRUCTURE, FUNCTION AND VARIABILITY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAROTEAUX LAMY SYNDROME; PRIORITY JOURNAL; PROTEIN CONFORMATION;

BINDING SITES; CHILD; EXONS; HUMANS; INFANT; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN FOLDING;

EID: 0033063112     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(98)00099-4     Document Type: Article

References (24)

1. E.F. Neufeld, J. Muenzer, The Mucopolysaccharidoses, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, 7th ed., McGraw-Hill, New York, 1995, pp. 2465-2494.
2. Bond C.S., Clementes P.R., Ashby S.J., Collyer C.A., Harrop S.J., Hopwood J.J., Guss M. Structure of a human lysosomal sulfatase. Structure. 5:1997;277-289.
3. Lukatela G., Krauss N., Theis K., Selmer T., Gieselman G., von Figura K., Saenger W. Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry. 37:1998;3654-3664.
4. Tomatsu S., Fukuda S., Masue M., Sukegawa K., Fukao T., Yamagishi A., Hori T., Iwata H., Ogawa T., Nakashima Y., Hanyu Y., Hashimoto T., Titani K., Oyama R., Suzuki M., Yagi K., Hayashi Y., Orii T. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem. Biophys. Res. Commun. 181:1991;677-683.
5. Franco B., Meroni G., Parenti G., Levilliers J., Bernard L., Gebbia M., Cox L., Maroteaux P., Sheffield L., Rappold G.A., Andria G., Petit C., Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in Chondrodysplasia punctata (CDOX) and implications for warfarin embryopathy. Cell. 81:1995;15-25.
6. Schmidt B., Selmer T., Ingendoh A., von Figura K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell. 82:1995;271-278.
7. Recksiek M., Selmer T., Dierks T., Schmidt B., von Figura K. Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine. J. Biol. Chem. 273:(11):1998;6096-6103.
8. Peters C., Schmidt B., Rommerskirch W., Rupp K., Zuhlsdorf M., Vingron M., Meyer H., Pohlmann R., von Figura K. Phylogenetic conservation of arylsulfatases: cDNA cloning and expression of human arylsulfatase B. J. Biol. Chem. 265:1990;3374-3381.
9. Schuchman E.H., Jackson C.E., Desnick R.J. Human arylsulfatase B: mopac cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatase A and C. Genomics. 6:1990;149-158.
10. Modaressi S., Rupp K., von Figura K., Peters C. Structure of the human arylsulfatase B gene. Biol. Chem. Hoppe-Seyler. 374:1993;327-335.
11. Wicker G., Proll V., Brooks D., Gibson G., Hopwood J.J., von Figura K., Peters C. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): an intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. J. Biol. Chem. 266:1991;21386-21391.
12. Jin W.D., Jackson C.E., Desnick R.J., Schuchmann E.H. Mucopolysaccharidosis VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am. J. Hum. Genet. 50:1992;795-800.
13. Litjens T., Morris C.P., Robertson C.F., Peters C., von Figura K., Hopwood J.J. An N-acetylgalactosamine-4-sulfatase mutation (Δ G 238) results in a severe Maroteaux-Lamy phenotype. Hum. Mutat. 1:1992;397-402.
14. Arlt G., Brooks D.A., Isbrandt D., Hopwood J.J., Bielicki J., Bradford T., Binloss-Petherbridge C.A., von Figura K., Peters C. Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B. J. Biol. Chem. 269:1994;9638-9643.
15. Isbrandt D., Arlt G., Brooks D.A., Hopwood J.J., Von Figura K., Peters C. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B alleles causing variable disease phenotypes. Am. J. Hum. Genet. 54:1994;454-463.
16. Voskoboeva E., Isbrandt D., von Figura K., Krasnopolskaya X., Peters C. Four novel mutant alleles of the arylsulfatase B gene in two patients with the intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Hum. Genet. 93:1994;259-264.
17. Litjens T., Brooks D.A., Peters C., Gibson G.J., Hopwood J.J. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am. J. Hum. Genet. 58:1996;1127-1134.
18. Isbrandt D., Hopwood J.J., von Figura K., Peters C. Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome. Hum. Mutat. 7:1996;361-363.
19. G.R.D. Villani, N. Balzano, P. Di Natale, Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis, Hum. Mutat. (1997) Online no. 127.
20. Annella T., Daniele A., Di Natale P. Heterogeneity of DNA and RNA in Hunter patients. Hum. Genet. 92:1993;350-352.
21. Newton C.R., Graham A., Heptinstall L.E., Powell S.J., Summers C., Kalsheker N., Smith J.C., Markham A.F. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids. Res. 17:1989;2503-2510.
22. Di Natale P., Balzano N., Esposito S., Villani G.R.D. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum. Mutat. 11:1998;313-320.
23. Scott H.S., Nelson V., Litjens T., Hopwood J.J., Morris C.P. Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS I disease phenotype. Hum. Mol. Genet. 2:1993;1471-1473.
24. Simonaro C.M., Schuchman E.H. N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. Biochim. Biophys. Acta. 1272:(3):1995;129-132.