MAPPING OF RETROTRANSPOSON SEQUENCES IN THE UNSTABLE REGION SURROUNDING THE SPINAL MUSCULAR-ATROPHY LOCUS IN 5Q13

The mutation that underlies the autosomal recessive disorder spinal mu scular atrophy (SMA) is located on chromosome 5q13. Recent studies sho w that SMA patients frequently have deletions and rearrangements in th is region compared to normal controls. During the isolation of candida te cDNAs for the disease, we identified a sequence that shows high hom ology to the THE-1 retrotransposon gene family. Using YAC fragmentatio n 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. ( C) 1995 Academic Press, Inc.