title: Sequence of the human iduronate 2-sulfatase (IDS) gene.
abstract: Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II. Three overlapping genomic clones derived from an X-chromosome-specific library containing the entire IDS gene were isolated and the sequences of the intron boundaries and the 5' promoter region were determined. The IDS gene is split into nine exons spanning approximately 24 kb. The potential promoter for IDS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. A polypyrimidine-like repeat is found in intron 1.
authors.affiliation: Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
authors.forename: P J
authors.initials: PJ
authors.lastname: Wilson
authors.forename: C A
authors.initials: CA
authors.lastname: Meaney
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D016384:Consensus Sequence; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007438:Introns; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D007066:Iduronate Sulfatase