DOI: 10.1073/pnas.92.9.3702. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

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

10.1073/pnas.92.9.3702

Crossref journal-article

Proceedings of the National Academy of Sciences

Proceedings of the National Academy of Sciences (341)

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.

Bibliography

Selig, S., Bruno, S., Scharf, J. M., Wang, C. H., Vitale, E., Gilliam, T. C., & Kunkel, L. M. (1995). Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proceedings of the National Academy of Sciences, 92(9), 3702â3706.

Authors 7

S Selig (first)
S Bruno (additional)
J M Scharf (additional)
C H Wang (additional)
E Vitale (additional)
T C Gilliam (additional)
L M Kunkel (additional)

References 0 Referenced 40

None

Dates

Type	When
Created	19 years, 2 months ago (May 31, 2006, 9:31 a.m.)
Deposited	3 years, 4 months ago (April 13, 2022, 1:59 p.m.)
Indexed	3 weeks ago (Aug. 6, 2025, 8:53 a.m.)
Issued	30 years, 4 months ago (April 25, 1995)
Published	30 years, 4 months ago (April 25, 1995)
Published Online	30 years, 4 months ago (April 25, 1995)
Published Print	30 years, 4 months ago (April 25, 1995)

Funders 0

None

BibTeX

@article{Selig_1995, title={Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.}, volume={92}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.92.9.3702}, DOI={10.1073/pnas.92.9.3702}, number={9}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Selig, S and Bruno, S and Scharf, J M and Wang, C H and Vitale, E and Gilliam, T C and Kunkel, L M}, year={1995}, month=apr, pages={3702–3706} }

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