title: Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.
abstract: The gene for the autosomal recessive neurodegenerative disorder spinal muscular atrophy has been mapped to a region of 5q13 flanked proximally by CMS-1 and distally by D5S557. We present a 2-Mb yeast artificial chromosome (YAC) contig constructed from three libraries encompassing the D5S435/D5S629/CMS-1-SMA-D5S557/D5S112 interval. The D5S629/CMS-1-SMA-D5S557 interval is unusual insofar as chromosome 5-specific repetitive sequences are present and many of the simple tandem repeats (STR) are located at multiple loci that are unstable in our YAC clones. A long-range restriction map that demonstrates the SMA-containing interval to be 550 kb is presented. Moreover, a 210-kb cosmid array from both a YAC-specific and a chromosome 5-specific cosmid library encompassing the multilocus STRs CATT-1, CMS-1, D5F149, D5F150, and D5F153 has been assembled. We have recently reported strong linkage disequilibrium with Type I SMA for two of these STRs, indicating that the gene is located in close proximity to or within our cosmid clone array.
authors.affiliation: Department of Biochemistry, Ottawa, Ontario, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Roy
authors.forename: M D
authors.initials: MD
authors.lastname: McLean
authors.forename: A
authors.initials: A
authors.lastname: Besner-Johnston
authors.forename: C
authors.initials: C
authors.lastname: Lefebvre
authors.forename: M
authors.initials: M
authors.lastname: Salih
authors.forename: J D
authors.initials: JD
authors.lastname: Carpten
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
authors.forename: Z
authors.initials: Z
authors.lastname: Yaraghi
authors.forename: J E
authors.initials: JE
authors.lastname: Ikeda
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002895:Chromosomes, Human, Pair 5; D003360:Cosmids; D017931:DNA Primers; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers