Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

Journal article

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: Francis, M; Nesbit, M; Theodosiou, A; Rodrigues, N; Campbell, L

• Publication status: Published
• Journal: Genomics
• Volume: 27
• Issue: 2
• Pages: 366-369
• Publication date: 1995-05-01
• DOI: 10.1006/geno.1995.1059
• EISSN: 1089-8646
• ISSN: 0888-7543
• Language: English
• Keywords: Molecular Sequence Data; Muscular Atrophy, Spinal; Humans; Sequence Alignment; Retroelements; Base Sequence; Genetic Markers; Chromosomes, Human, Pair 5; Chromosome Mapping