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. 1995 Apr 25;92(9):3702–3706. doi: 10.1073/pnas.92.9.3702

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

S Selig 1, S Bruno 1, J M Scharf 1, C H Wang 1, E Vitale 1, T C Gilliam 1, L M Kunkel 1
PMCID: PMC42029  PMID: 7731968

Abstract

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

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