title: Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.
abstract: The mutation that underlies the autosomal recessive disorder spinal muscular atrophy (SMA) is located on chromosome 5q13. Recent studies show that SMA patients frequently have deletions and rearrangements in this region compared to normal controls. During the isolation of candidate cDNAs for the disease, we identified a sequence that shows high homology to the THE-1 retrotransposon gene family. Using YAC fragmentation techniques, we have refined the localization of this sequence to the domain known to show instability in SMA patients. The implication of these results for the mechanism of the mutation in SMA is discussed.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
authors.forename: M J
authors.initials: MJ
authors.lastname: Francis
authors.forename: M A
authors.initials: MA
authors.lastname: Nesbit
authors.forename: A M
authors.initials: AM
authors.lastname: Theodosiou
authors.forename: N R
authors.initials: NR
authors.lastname: Rodrigues
authors.forename: L
authors.initials: L
authors.lastname: Campbell
authors.forename: Z
authors.initials: Z
authors.lastname: Christodoulou
authors.forename: S J
authors.initials: SJ
authors.lastname: Qureshi
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D018626:Retroelements / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D005819:Genetic Markers; D018626:Retroelements