4.7 Review

Measuring and interpreting transposable element expression

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NATURE REVIEWS GENETICS
卷 21, 期 12, 页码 721-736

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NATURE PORTFOLIO
DOI: 10.1038/s41576-020-0251-y

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资金

  1. Fondation pour la Recherche Medicale [DEQ20180339170]
  2. Agence Nationale de la Recherche (LABEX SIGNALIFE) [ANR-11-LABX-0028-01, ANR-16-CE12-0020, ANR-19-CE12-0032]
  3. Canceropole Provence-Alpes-Cote d'Azur
  4. French National Cancer Institute (INCa)
  5. Provence-Alpes-Cote d'Azur Region, CNRS [GDR 3546]
  6. University Hospital Federation (FHU) OncoAge

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Computational tools to analyse RNA sequencing data often disregard or even misinterpret reads derived from transposable elements. This Review highlights the main challenges associated with the detection of transposable element expression, including mappability, sequence polymorphisms and transcript diversity, and discusses the experimental and computational strategies to overcome them. Transposable elements (TEs) are insertional mutagens that contribute greatly to the plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well as physiology or disease in individuals. Measuring TE expression helps to understand not only when and where TE mobilization can occur but also how this process alters gene expression, chromatin accessibility or cellular signalling pathways. Although genome-wide gene expression assays such as RNA sequencing include transposon-derived transcripts, most computational analytical tools discard or misinterpret TE-derived reads. Emerging approaches are improving the identification of expressed TE loci and helping to discriminate TE transcripts that permit TE mobilization from chimeric gene-TE transcripts or pervasive transcription. Here we review the main challenges associated with the detection of TE expression, including mappability, insertional and internal sequence polymorphisms, and the diversity of the TE transcriptional landscape, as well as the different experimental and computational strategies to solve them.

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