Identification and Analysis of Alternative Splicing

Abstract

Alternative splicing (AS) is suggested to be a major source of transcriptome/proteome complexity and gene function diversity, and highly relevant to several human diseases. Many bioinformatics studies based on expressed sequence tag (EST) database estimate that between 30% and 60% of all human genes undergo AS. The result indicates that the number of human expressed forms (mRNA) is much higher than that of genes, which might explain the significant disparity between the low number of human protein-coding genes (20,000~25,000) and the high number of human proteins (> 90,000). The high frequency of AS in human might provide many more proteins per gene than in other organisms. Although Brett et al. suggested that the amount of AS is no large differences between human and other animals, there is still no direct evidence to prove their claim. The exact extent of AS in the human genome remains uncertain and EST/mRNA information in mammals other than human and mouse is still very limited. In this talk, I will report our most recent works including PSEP and ESTviewer. PSEP is a comparative method for identification of gene structures and alternatively spliced (AS) variants, and ESTviewer is a Web interface for visualizing cross-species (including mouse, rat, cattle, pig, and chicken) conserved ESTs in human genes and human AS variants.