Selig S, Bruno S, Scharf J M, Wang C H, Vitale E, Gilliam T C, Kunkel L M
Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.
Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3702-6. doi: 10.1073/pnas.92.9.3702.
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.
低拷贝重复序列与基因组重排有关，并在多种疾病的突变产生中起作用。在此，我们对人类染色体5q13上脊髓性肌萎缩症（SMA）区域的低拷贝重复序列的一个子集进行了表征。我们表明，这个名为c41 - cad的重复序列是一个高度表达的假基因，它源自位于5p13 - 14的完整神经元钙黏蛋白基因Br - cadherin。Br - cadherin在大脑中特异性表达，而c41 - cad转录本的丰度高10 - 15倍，且在所检测的所有组织中均有存在。我们推测，c41 - cad重复序列单独或与SMA区域的其他重复序列协同作用，通过促进重排和缺失参与SMA的发病机制。
