EXPRESSED CADHERIN PSEUDOGENES ARE LOCALIZED TO THE CRITICAL REGION OF THE SPINAL MUSCULAR-ATROPHY GENE

Low-copy repeats have been associated with genomic rearrangements and have been implicated in the generation of mutations in several disease s. Here we characterize a subset of low-copy repeats in the spinal mus cular atrophy (SMA) region in human chromosome 5q13. We show that this repeated sequence, named c41-cad, is a highly expressed pseudogene de rived from an intact neuronal cadherin gene, Br-cadherin, situated on 5p13-14. Br-cadherin is expressed specifically in the brain, whereas t he c41-cad transcripts are 10-15 times more abundant and are present i n all tissues examined. We speculate that the c41-cad repeats, separat ely or in concert with other repeats in the SMA region, are involved i n the pathogenesis of SMA by promoting rearrangements and deletions.