title: A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
abstract: Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder characterized by a decreased activity of all known sulfatases. The deficiency of sulfatases was proposed to result from the lack of a co- or posttranslational modification that is common to all sulfatases and required for their catalytic activity. Structural analysis of two catalytically active sulfatases revealed that a cysteine residue that is predicted from the cDNA sequence and conserved among all known sulfatases is replaced by a 2-amino-3-oxopropionic acid residue, while in sulfatases derived from MSD cells, this cysteine residue is retained. It is proposed that the co- or posttranslational conversion of a cysteine to 2-amino-3-oxopropionic acid is required for generating catalytically active sulfatases and that deficiency of this protein modification is the cause of MSD.
authors.affiliation: Universität Göttingen, Federal Republic of Germany.
authors.forename: B
authors.initials: B
authors.lastname: Schmidt
authors.forename: T
authors.initials: T
authors.lastname: Selmer
authors.forename: A
authors.initials: A
authors.lastname: Ingendoh
authors.forename: K
authors.initials: K
authors.lastname: von Figura
mesh_terms: D000409:Alanine / Q000031:analogs & derivatives*; D000447:Aldehydes; D000595:Amino Acid Sequence; D000818:Animals; D002460:Cell Line; D017124:Conserved Sequence; D003545:Cysteine; D018076:DNA, Complementary; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017386:Sequence Homology, Amino Acid; D013429:Sulfatases / Q000172:deficiency* / Q000235:genetics* / Q000302:isolation & purification
chemical_list: C094933:2-amino-3-oxopropionic acid; D000447:Aldehydes; D018076:DNA, Complementary; D013429:Sulfatases; D003545:Cysteine; D000409:Alanine