Mono-allelic retrotransposon insertion addresses epigenetic transcriptional repression in human genomeReport as inadecuate

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Journal of Biomedical Science

, 19:13

First Online: 02 February 2012Received: 16 December 2011Accepted: 02 February 2012DOI: 10.1186-1423-0127-19-13

Cite this article as: Byun, HM., Heo, K., Mitchell, K.J. et al. J Biomed Sci 2012 19: 13. doi:10.1186-1423-0127-19-13


BackgroundRetrotransposons have been extensively studied in plants and animals and have been shown to have an impact on human genome dynamics and evolution. Their ability to move within genomes gives retrotransposons to affect genome instability.

Methodswe examined the polymorphic inserted Alu Ya5, evolutionary young Alu, in the progesterone receptor gene to determine the effects of Alu insertion on molecular environment. We used mono-allelic inserted cell lines which carry both Alu-present and Alu-absent alleles. To determine the epigenetic change and gene expression, we performed restriction enzyme digestion, Pyrosequencing, and Chromatin Immunoprecipitation.

ResultsWe observed that the polymorphic insertion of evolutionally young Alu causes increasing levels of DNA methylation in the surrounding genomic area and generates inactive histone tail modifications. Consequently the Alu insertion deleteriously inactivates the neighboring gene expression.

ConclusionThe mono-allelic Alu insertion cell line clearly showed that polymorphic inserted repetitive elements cause the inactivation of neighboring gene expression, bringing aberrant epigenetic changes.

KeywordsEpigenetics Retrotransposons Long interspersed elements Alu Electronic supplementary materialThe online version of this article doi:10.1186-1423-0127-19-13 contains supplementary material, which is available to authorized users.

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Author: Hyang-Min Byun - Kyu Heo - Kasey J Mitchell - Allen S Yang


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