Human Genomic Deletions Generated by SVA-Associated Events.pdfVIP

Hindawi Publishing Corporation Comparative and Functional Genomics Volume 2012, Article ID 807270, 7 pages doi:10.1155/2012/807270 Research Article Human Genomic Deletions Generated by SVA-Associated Events Jungnam Lee,1 Jungsu Ha,2 Seung-Yeol Son,2 and Kyudong Han1 1 Department of Nanobiomedical Science and WCU Research Center, Dankook University, Cheonan 330-714, Republic of Korea 2 Department of Microbiology, College of Advance Science, Dankook University, Cheonan 330-714, Republic of Korea Correspondence should be addressed to Kyudong Han, kyudong.han@ Received 26 January 2012; Revised 17 March 2012; Accepted 19 March 2012 Academic Editor: Jinchuan Xing Copyright © 2012 Jungnam Lee et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Mobile elements are responsible for half of the human genome. Among the elements, L1 and Alu are most ubiquitous. They use L1 enzymatic machinery to move in their host genomes. A significant amount of research has been conducted about these two elements. The results showed that these two elements have played important roles in generating genomic variations between human and chimpanzee lineages and even within a species, through various mechanisms. SVA elements are a third type of mobile element which uses the L1 enzymatic machinery to propagate in the human genome but has not been studied much relative to the other elements. Here, we attempt the first identification of the human genomic deletions caused by SVA elements, through the comparison of human and chimpanzee genome sequences. We identified 13 SVA recombination-associated deletions (SRADs) and 13 SVA insertion-mediat