Title:
Exonization of the LTR transposable elements in human genome

dc.contributor.author Piriyapongsa, Jittima en_US
dc.contributor.author Polavarapu, Nalini en_US
dc.contributor.author Borodovsky, Mark en_US
dc.contributor.author McDonald, John F. en_US
dc.contributor.corporatename Georgia Institute of Technology. School of Biology en_US
dc.contributor.corporatename Georgia Institute of Technology. Division of Computational Science and Engineering en_US
dc.contributor.corporatename Georgia Institute of Technology. Dept. of Biomedical Engineering en_US
dc.contributor.corporatename Emory University. Dept. of Biomedical Engineering en_US
dc.date.accessioned 2009-10-13T18:57:42Z
dc.date.available 2009-10-13T18:57:42Z
dc.date.issued 2007-08-28
dc.description © 2007 Piriyapongsa et al; licensee BioMed Central Ltd. The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1471-2164/8/291 en_US
dc.description DOI:10.1186/1471-2164-8-291 en_US
dc.description.abstract Background: Retrotransposons have been shown to contribute to evolution of both structure and regulation of protein coding genes. It has been postulated that the primary mechanism by which retrotransposons contribute to structural gene evolution is through insertion into an intron or a gene flanking region, and subsequent incorporation into an exon. Results: We found that Long Terminal Repeat (LTR) retrotransposons are associated with 1,057 human genes (5.8%). In 256 cases LTR retrotransposons were observed in protein-coding regions, while 50 distinct protein coding exons in 45 genes were comprised exclusively of LTR RetroTransposon Sequence (LRTS). We go on to reconstruct the evolutionary history of an alternatively spliced exon of the Interleukin 22 receptor, alpha 2 gene (IL22RA2) derived from a sequence of retrotransposon of the Mammalian apparent LTR retrotransposons (MaLR) family. Sequencing and analysis of the homologous regions of genomes of several primates indicate that the LTR retrotransposon was inserted into the IL22RA2 gene at least prior to the divergence of Apes and Old World monkeys from a common ancestor (~25 MYA). We hypothesize that the recruitment of the part of LTR as a novel exon in great ape species occurred prior to the divergence of orangutans and humans from a common ancestor (~14 MYA) as a result of a single mutation in the proto-splice site. Conclusion: Our analysis of LRTS exonization events has shown that the patterns of LRTS distribution in human exons support the hypothesis that LRTS played a significant role in human gene evolution by providing cis-regulatory sequences; direct incorporation of LTR sequences into protein coding regions was observed less frequently. Combination of computational and experimental approaches used for tracing the history of the LTR exonization process of IL22RA2 gene presents a promising strategy that could facilitate further studies of transposon initiated gene evolution. en_US
dc.identifier.citation Piriyapongsa J., Polavarapu N., Borodovsky M., McDonald J.F., "Exonization of the LTR transposable elements in human genome," BMC Genomics 2007, 8:291 en_US
dc.identifier.doi 10.1186/1471-2164-8-291
dc.identifier.issn 1471-2164
dc.identifier.uri http://hdl.handle.net/1853/30446
dc.language.iso en_US en_US
dc.publisher Georgia Institute of Technology en_US
dc.publisher.original BioMed Central en_US
dc.subject Long terminal repeat retrotransposons en_US
dc.subject LTR en_US
dc.subject Genome studies en_US
dc.subject Exons en_US
dc.subject Exonization en_US
dc.subject Retrotransposons en_US
dc.title Exonization of the LTR transposable elements in human genome en_US
dc.type Text
dc.type.genre Article
dspace.entity.type Publication
local.contributor.author Borodovsky, Mark
local.contributor.author McDonald, John F.
local.contributor.corporatename College of Sciences
local.contributor.corporatename School of Biological Sciences
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relation.isAuthorOfPublication 747c573d-7e00-47e6-bd0c-1532a3dfc720
relation.isOrgUnitOfPublication 85042be6-2d68-4e07-b384-e1f908fae48a
relation.isOrgUnitOfPublication c8b3bd08-9989-40d3-afe3-e0ad8d5c72b5
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