| Summary: | 碩士 === 國立臺灣大學 === 醫事技術學研究所 === 90 === Since the beginning of the human genome project in 1990, genome sequences of many model organisms have been determined one after another. The reports of only 30,000 to 40,000 genes in the human genome came as a surprise. How could the human’s genome have only approximately twice as many gene as the relatively simple organisms, e.g. Caenorhabditis elegans and Drosophila melanogaster ? How could the fly genome contain fewer genes than the less complex organism - worm ? Depending on the alignment of human EST sequences to genomic sequence, biologists have estimated that, comparing to the fly and worm, the frequency of alternative splicing in the human genome is rather high at about 35─59﹪. In our study, we used the human ArfGAP gene family as a model to examine the roles of alternative splicing in generating protein diversity. According to the results, the alternative splicing frequency of the human ArfGAP gene family is about 37.5﹪and it may be still an underestimate. Furthermore, we found that one gene (KIAA1099) may adopt combinatorial alternative splicing to produce more complex isoforms. Meanwhile, the KIAA1099 gene may be a potential liver cancer marker gene by comparative analysis of its expression patterns in normal adult and fetal livers, and hepatocellular tumor tissues. The result suggests that the KIAA1099 gene may be linked to the pathogenesis of liver cancer.
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