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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

DOI

10.1006/geno.1995.1059

Type

Journal article

Journal

Genomics

Publication Date

20/05/1995

Volume

27

Pages

366 - 369

Keywords

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