title: Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.
abstract: The GM2 activator protein is an essential substrate cofactor for the hydrolysis of GM2 ganglioside by lysosomal beta-hexosaminidase A (EC 3.2.1.52). There have been conflicting reports as to the chromosomal localization of the gene encoding the activator. We demonstrate here that these conflicts were caused by the presence of a previously unidentified processed activator-pseudogene on chromosome 3, and we confirm a previous ELISA-based localization of the functional activator gene to chromosome 5. Our data indicate that the functional activator locus can still be considered a candidate site for defects causing some forms of spinal muscular atrophy.
authors.affiliation: Research Institute, Hospital For Sick Children, Toronto, Ontario, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Xie
authors.forename: J L
authors.initials: JL
authors.lastname: Kennedy
authors.forename: B
authors.initials: B
authors.lastname: McInnes
authors.forename: D
authors.initials: D
authors.lastname: Auger
authors.forename: D
authors.initials: D
authors.lastname: Mahuran
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D006224:Cricetinae; D004247:DNA; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D011544:Pseudogenes
chemical_list: D049289:G(M2) Activator Protein; D011506:Proteins; D005678:G(M2) Ganglioside; D004247:DNA