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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.

Original publication




Journal article



Publication Date





366 - 369


Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 5, Genetic Markers, Humans, Molecular Sequence Data, Muscular Atrophy, Spinal, Retroelements, Sequence Alignment