title: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.
abstract: We cloned and sequenced a full-length cDNA of human placental N-acetylgalactosamine-6-sulfate sulfatase, the enzyme deficient in Morquio disease. The 2339-nucleotide sequence contained 1566 nucleotides which encoded a polypeptide of 522 amino acid residues. The deduced amino acid sequence was composed of a 26-amino acid N-terminal signal peptide and a mature polypeptide of 496 amino acid residues including two potential asparagine-linked glycosylation sites. Expression of the cDNA in transfected deficient fibroblasts resulted in higher production of this sulfatase activity than in untransfected deficient fibroblasts. The cDNA clone was hybridized to only a 2.3-kilobase species of RNA in human fibroblasts. The amino acid sequence of N-acetylgalactosamine-6-sulfate sulfatase showed a high degree of homology with those of other sulfatases such as human arylsulfatases A, B or C, glucosamine-6-sulfatase, iduronate-2-sulfatase and sea urchin arylsulfatase.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: M
authors.initials: M
authors.lastname: Masue
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: A
authors.initials: A
authors.lastname: Yamagishi
authors.forename: T
authors.initials: T
authors.lastname: Hori
authors.forename: H
authors.initials: H
authors.lastname: Iwata
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Nakashima
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002811:Chondroitinsulfatases / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D005347:Fibroblasts / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000201:enzymology / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014162:Transfection
chemical_list: D004247:DNA; D002811:Chondroitinsulfatases