Aberrant and alternative splicing in skeletal system disease

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• 作者：Xin Fan ; Liling Tang
• 关键词：COL1A1 ; alpha 1 type I collagen ; SEDL or SEDT ; spondyloepiphyseal dysplasia tarda ; TRAPPC2 ; trafficking protein particle complex 2 ; LRP5 ; lipoprotein receptor-related protein 5 ; CD44 ; cluster of differentiation 44 ; VEGF or VEGF-A ; vascular endothelial gro
• 刊名：Gene
• 出版年：2013
• 出版时间：1 October, 2013
• 年：2013
• 卷：528
• 期：1
• 页码：21-26
• 全文大小：458 K

文摘

The main function of skeletal system is to support the body and help movement. A variety of factors can lead to skeletal system disease, including age, exercise, and of course genetic makeup and expression. Pre-mRNA splicing plays a crucial role in gene expression, by creating multiple protein variants with different biological functions. The recent studies show that several skeletal system diseases are related to pre-mRNA splicing. This review focuses on the relationship between pre-mRNA splicing and skeletal system disease. On the one hand, splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP5. On the other hand, alternative splicing without genomic mutation may generate some marker protein isoforms, for example, FN, VEGF and CD44. Therefore, understanding the relationship between pre-mRNA splicing and skeletal system disease will aid in uncovering the mechanism of disease and contribute to the future development of gene therapy.