Chapter 2 - Role of alternative splicing in health and diseases

Abstract

Alternative splicing (AS) is a characteristic of many genes, in which several different transcripts can be originated from the same primary mRNA. These variants are called transcripts or isoforms. AS provides the required diversity to apply gene products in different conditions or tissues. More than 90% of human intron-containing genes undergo AS. Furthermore, these genes are thought to encode two or more isoforms, which are diversified across tissues and developmental stages. Each biological function role of our body like cell death, controlling cell division, control of gene expression is played by AS. Different heritable diseases are either related to irregular/abnormal AS or resulted from irregular/abnormal AS. And about half of the genetic disorders which are inherited are related to SNPs that are also the result of wreckage of splicing events. Profiling normal and disease tissues shows significant changes in AS related to the progression of disease. Genome-wide platforms for assessing AS are a powerful tool for understanding the pathological role of this process. Abnormal AS has been related to several diseases, including cancer. AS is a potential target for therapeutics, and there is active research on finding new biomarkers. Finding disease specific biomarkers might allow; early diagnosis of diseases and their prevention strategies to assure healthy longevity, and identification of personalized medicine. This chapter lightens about basic of gene expression, regulation via AS, regulators of AS, technique to assess the AS, brief overview of various algorithms for finding AS, and role of AS in disease.