title: Structure and sequence of the human sulphamidase gene.
abstract: Sanfilippo A syndrome (MPS-IIIA) is a mucopolysaccharide lysosomal storage disorder caused by a deficiency in the lysosomal enzyme, sulphamidase (EC 3.10.1.1), which is required for the degradation of heparan sulphate. A genomic clone containing the entire sulphamidase gene was isolated from a chromosome 17-specific gridded cosmid library. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The sulphamidase gene is split into 8 exons spanning approximately 11 kb.
authors.affiliation: Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia. karageorgl@wch.sa.gov.au
authors.forename: L E
authors.initials: LE
authors.lastname: Karageorgos
authors.forename: X H
authors.initials: XH
authors.lastname: Guo
authors.forename: L
authors.initials: L
authors.lastname: Blanch
authors.forename: B
authors.initials: B
authors.lastname: Weber
authors.forename: D S
authors.initials: DS
authors.lastname: Anson
authors.forename: H S
authors.initials: HS
authors.lastname: Scott
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D018076:DNA, Complementary; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: D018076:DNA, Complementary; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase