title: Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
abstract: Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific gridded cosmid library containing the entire GALNS gene were isolated. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The GALNS gene is split into 14 exons spanning approximately 40 kb. The potential promoter for GALNS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. The GALNS gene contains an Alu repeat in intron 5 and a VNTR-like sequence in intron 6.
authors.affiliation: Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, Australia.
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
authors.forename: X H
authors.initials: XH
authors.lastname: Guo
authors.forename: S
authors.initials: S
authors.lastname: Apostolou
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: H S
authors.initials: HS
authors.lastname: Scott
mesh_terms: D001483:Base Sequence; D002811:Chondroitinsulfatases / Q000172:deficiency / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D006801:Humans; D007438:Introns; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000201:enzymology* / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D018076:DNA, Complementary; D002811:Chondroitinsulfatases