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Published (Version of Record)CC BY V4.0, Open Access
Journal article
The role of SINE-VNTR-Alu (SVA) retrotransposons in shaping the human genome
International Journal of Molecular Sciences, Vol.20(23), Article 5977
2019
Abstract
Retrotransposons can alter the regulation of genes both transcriptionally and post-transcriptionally, through mechanisms such as binding transcription factors and alternative splicing of transcripts. SINE-VNTR-Alu (SVA) retrotransposons are the most recently evolved class of retrotransposable elements, found solely in primates, including humans. SVAs are preferentially found at genic, high GC loci, and have been termed “mobile CpG islands”. We hypothesise that the ability of SVAs to mobilise, and their non-random distribution across the genome, may result in differential regulation of certain pathways. We analysed SVA distribution patterns across the human reference genome and identified over-representation of SVAs at zinc finger gene clusters. Zinc finger proteins are able to bind to and repress SVA function through transcriptional and epigenetic mechanisms, and the interplay between SVAs and zinc fingers has been proposed as a major feature of genome evolution. We describe observations relating to the clustering patterns of both reference SVAs and polymorphic SVA insertions at zinc finger gene loci, suggesting that the evolution of this network may be ongoing in humans. Further, we propose a mechanism to direct future research and validation efforts, in which the interplay between zinc fingers and their epigenetic modulation of SVAs may regulate a network of zinc finger genes, with the potential for wider transcriptional consequences.
Details
- Title
- The role of SINE-VNTR-Alu (SVA) retrotransposons in shaping the human genome
- Authors/Creators
- O. Gianfrancesco (Author/Creator) - University of LiverpoolB. Geary (Author/Creator) - University of ManchesterA.L. Savage (Author/Creator)K.J. Billingsley (Author/Creator) - University of LiverpoolV.J. Bubb (Author/Creator) - University of LiverpoolJ.P. Quinn (Author/Creator) - University of Liverpool
- Publication Details
- International Journal of Molecular Sciences, Vol.20(23), Article 5977
- Publisher
- MDPI
- Identifiers
- 991005545412707891
- Copyright
- © 2019 by the authors
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.54 Molecular & Cell Biology - Genetics
- 1.54.1122 Transposable Elements
- Web Of Science research areas
- Biochemistry & Molecular Biology
- Chemistry, Multidisciplinary
- ESI research areas
- Chemistry