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Alternative Splicing and Disease
Abstract
Alternative splicing is an important part of the regular process of gene expression. It controls time and tissue dependent expression of specific splice forms and depends on the correct function of about 100 splicing factor proteins of which many are the product of alternative splicing itself. It is therefore not surprising that even minor sequence disturbances can cause mis-spliced gene products with pathological effects. We survey some common diseases which can be traced back to a malfunction of alternative splicing including cystic fibrosis, beta-thalassemia, spinal muscular atrophy and cancer. Often cancer also results from even mis-spliced splicing factors leading to randomly spliced non-functional isoforms of several genes.
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