期刊
TRENDS IN MOLECULAR MEDICINE
卷 18, 期 8, 页码 472-482出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2012.06.006
关键词
alternative splicing; cis mutations; trans splicing factors; spliceosome; splicing related human diseases; antisense oligonucleotide therapy
资金
- NHLBI NIH HHS [R01 HL045565] Funding Source: Medline
- NIAMS NIH HHS [R01 AR045653, R01 AR060733] Funding Source: Medline
In metazoans, alternative splicing of genes is essential for regulating gene expression and contributing to functional complexity. Computational predictions, comparative genomics, and transcriptome profiling of normal and diseased tissues indicate that an unexpectedly high fraction of diseases are caused by mutations that alter splicing. Mutations in cis elements cause missplicing of genes that alter gene function and contribute to disease pathology. Mutations of core spliceosomal factors are associated with hematolymphoid neoplasias, retinitis pigmentosa, and microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Mutations in the trans regulatory factors that control alternative splicing are associated with autism spectrum disorder, amyotrophic lateral sclerosis (ALS), and various cancers. In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery.
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