학술논문
Expressed Cadherin Pseudogenes are Localized to the Critical Region of the Spinal Muscular Atrophy Gene
Document Type
research-article
Source
Proceedings of the National Academy of Sciences of the United States of America, 1995 Apr . 92(9), 3702-3706.
Subject
Language
English
ISSN
00278424
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.