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1: Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3702-6.Click here to read Links

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

Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM.

Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.

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.

PMID: 7731968 [PubMed - indexed for MEDLINE]

PMCID: PMC42029