NDLI: Human Genomic Deletions Generated by SVA-Associated Events

Content Provider	PubMed Central
Author	Lee, Jungnam Ha, Jungsu Son, Seung-yeol Han, Kyudong
Copyright Year	2012
Abstract	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.
Related Links	http://dx.doi.org/10.1155/2012/807270
Starting Page	807270
File Format	PDF
ISSN	15316912
e-ISSN	15326268
Journal	Comparative and Functional Genomics
Volume Number	2012
Language	English
Publisher	Hindawi Publishing Corporation
Publisher Date	2012-01-01
Access Restriction	Open
Rights Holder	Hindawi Publishing Corporation
Subject Keyword	Biotechnology Genetics Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Biotechnology

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