Dae-Soo Kim 1 , Un-Jong Jo 1 ,Jae-Won Huh 2 and Heui-Soo Kim 1, 2

1. Pusan National University Dae-Soo Kim1, Un-Jong Jo1,Jae-Won Huh2 and Heui-Soo Kim1, 2 1PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National University, Busan 2Division of Biological Sciences, College of Natural Sciences,Pusan National University, Busan Functional Impact of Transposable Element using Bioinformatic Analysis and Comparative Genomic Approach Add Your Text here By generalization, a large number of transposable elements might not be junk, but could have had a significant role in gene evolution or species divergence. Dae-Soo Kim1 ,Jae-Won Huh2 and Heui-Soo Kim1, 2 1PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National University, Busan 2Division of Biological Sciences, College of Natural Sciences,Pusan National University, Busan http://www.primate.or.kr/ Genome Information Lab ABSTRACT Alternative splicing is an important mechanism for regulating protein diversity in higher eukaryotes. Although the regulation for alternative splicing event in a few genes is characterized, the general regulation mechanism for alternative splicing remains to be unclear. Numerous studies describe exonization of transposable elements, which is, splicing mediated insertion of fragments of transposable elements sequence into mature mRNAs. In this study, we investigate the number of transposable elements expression in protein coding region from the alternative splicing events. We searched currently available human, chimpanzee and mouse RefSeq sequences, including proteome complement for the presence of transposable elements. The transposable elements fusion exons appeared within the coding region of human 309 genes caused related insert protein domains or unrelated protein domains. Thus, we can compare with the numbers of orthologs in terms of protein diversity event in chimpanzee and mouse orthologs gene pairs and the transposable elements conservation. Most of 309 genes can be found in chimpanzee orthologs gene pairs, but can’t be found in mouse orthologs gene pairs. The transposable elements within protein coding sequence of gene have been a major source of variation and novel genes during human evolution. METHODS RESULTS Figure 1. Location of transposable element integration Transposable element insertion within protein coding regions Table 1. Distribution of transposable element within human protein coding regions The human genome is disappointing: It is small It is empty It is unoriginal It is repetitive K-value paradox Complexity does not correlate with chromosome number. C-value paradox Complexity does not correlate with genome size. N-value paradox Complexity does not correlate with gene number. The genome contains a large number of genetic pseudogenes. Functional analysis of transposable elements in the coding regions Transposable element fusion screen Comparative analysis of transposable elements within coding region BLAST