title: Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.
abstract: The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based methodology. However, we demonstrated that the PCR primers used preferentially amplified a processed pseudogene (GM2AP) that we mapped to chromosome 3 and that GM2A was located on chromosome 5. In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA.
authors.affiliation: Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.
authors.forename: H H
authors.initials: HH
authors.lastname: Heng
authors.forename: B
authors.initials: B
authors.lastname: Xie
authors.forename: X M
authors.initials: XM
authors.lastname: Shi
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: D J
authors.initials: DJ
authors.lastname: Mahuran
mesh_terms: D002478:Cells, Cultured; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D017931:DNA Primers; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D011544:Pseudogenes
chemical_list: D017931:DNA Primers; D049289:G(M2) Activator Protein; D011506:Proteins; D005678:G(M2) Ganglioside