Human Genomic Deletions Generated by SVA-Associated Events
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 ha...
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Published in | Comparative and functional genomics Vol. 2012; no. 2012; pp. 1 - 7 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Cairo, Egypt
Hindawi Puplishing Corporation
01.01.2012
Hindawi Publishing Corporation Hindawi Limited |
Subjects | |
Online Access | Get full text |
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Summary: | 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-mediated deletions (SIMDs) in the human genome and characterized them, focusing on deletion size and the mechanisms causing the events. The results showed that the SRADs and SIMDs have deleted 15,752 and 30,785 bp, respectively, in the human genome since the divergence of human and chimpanzee and that SRADs were caused by two different mechanisms, nonhomologous end joining and nonallelic homologous recombination. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 Academic Editor: Jinchuan Xing |
ISSN: | 1531-6912 2314-436X 1532-6268 2314-4378 |
DOI: | 10.1155/2012/807270 |