Open AccessExpressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
Author(s) -
Sara Selig,
Sandra A. Bruno,
Jeremiah M. Scharf,
C H Wang,
Emilia Vitale,
T. Conrad Gilliam,
Louis M. Kunkel
Publication year - 1995
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.92.9.3702
Subject(s) - pseudogene , spinal muscular atrophy , sma* , biology , gene , genetics , cadherin , exon , genome , mathematics , combinatorics , cell
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.