Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data

Background: Transposable elements (TEs) are DNA sequences able to mobilize themselves and to increase their copy-number in the host genome. In the past, they have been considered mainly selfish DNA without evident functions. Nevertheless, currently they are believed to have been extensively involved in the evolution of primate genomes, especially from a regulatory perspective. Due to their recent activity they are also one of the primary sources of structural variants (SVs) in the human genome. By taking advantage of sequencing technologies and bioinformatics tools, recent surveys uncovered specific TE structural variants (TEVs) that gave rise to polymorphisms in human populations. When combined with RNA-seq data this information provides the opportunity to study the potential impact of TEs on gene expression in human. Results: In this work, we assessed the effects of the presence of specific TEs in cis on the expression of flanking genes by producing associations between polymorphic TEs and flanking gene expression levels in human lymphoblastoid cell lines. By using public data from the 1000 Genome Project and the Geuvadis consortium, we exploited an expression quantitative trait loci (eQTL) approach integrated with additional bioinformatics data mining analyses. We uncovered human loci enriched for common, less common and rare TEVs and identified 323 significant TEV-cis-eQTL associations. SINE-R/VNTR/Alus (SVAs) resulted the TE class with the strongest effects on gene expression. We also unveiled differential functional enrichments on genes associated to TEVs, genes associated to TEV-cis-eQTLs and genes associated to the genomic regions mostly enriched in TEV-cis-eQTLs highlighting, at multiple levels, the impact of TEVs on the host genome. Finally, we also identified polymorphic TEs putatively embedded in transcriptional units, proposing a novel mechanism in which TEVs may mediate individual-specific traits. Conclusion: We contributed to unveiling the effect of polymorphic TEs on transcription in lymphoblastoid cell lines

High performance bilayer-graphene Terahertz detectors

We report bilayer-graphene field effect transistors operating as THz broadband photodetectors based on plasma-waves excitation. By employing wide-gate geometries or buried gate configurations, we achieve a responsivity $\sim 1.2V/W (1.3 mA/W)$ and a noise equivalent power $\sim 2\times 10^{-9} W/Hz^{-1/2}$ in the 0.29-0.38 THz range, in photovoltage and photocurrent mode. The potential of this technology for scalability to higher frequencies and the development of flexible devices makes our approach competitive for a future generation of THz detection systems.Comment: 8 pages, 5 figures. Submitted to Applied Physics Letter

Cumulative radiation exposure during thoracic endovascular aneurysm repair and subsequent follow-up

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Raman shifts in MBE‐grown SixGe1 − x − ySny alloys with large Si content

We examine the Raman shift in silicon–germanium–tin alloys with high silicon content grown on a germanium virtual substrate by molecular beam epitaxy. The Raman shifts of the three most prominent modes, Si–Si, Si–Ge, and Ge–Ge, are measured and compared with results in previous literature. We analyze and fit the dependence of the three modes on the composition and strain of the semiconductor alloys. We also demonstrate the calculation of the composition and strain of SixGe1 − x − ySny from the Raman shifts alone, based on the fitted relationships. Our analysis extends previous results to samples lattice matched on Ge and with higher Si content than in prior comprehensive Raman analyses, thus making Raman measurements as a local, fast, and nondestructive characterization technique accessible for a wider compositional range of these ternary alloys for silicon-based photonic and microelectronic devices.Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659Peer Reviewe

Transposable element activation promotes neurodegeneration in a Drosophila model of Huntington's disease

Huntington's disease (HD) is an autosomal dominant disorder with progressive motor dysfunction and cognitive decline. The disease is caused by a CAG repeat expansion in the IT15 gene, which elongates a polyglutamine stretch of the HD protein, Huntingtin. No therapeutic treatments are available, and new pharmacological targets are needed. Retrotransposons are transposable elements (TEs) that represent 40% and 30% of the human and Drosophila genomes and replicate through an RNA intermediate. Mounting evidence suggests that mammalian TEs are active during neurogenesis and may be involved in diseases of the nervous system. Here we show that TE expression and mobilization are increased in a Drosophila melanogaster HD model. By inhibiting TE mobilization with Reverse Transcriptase inhibitors, polyQ-dependent eye neurodegeneration and genome instability in larval brains are rescued and fly lifespan is increased. These results suggest that TE activation may be involved in polyQ-induced neurotoxicity and a potential pharmacological target

Terahertz detection by epitaxial-graphene field-effect-transistors on silicon carbide

We report on room temperature detection of terahertz radiation by means of antenna-coupled field effect transistors (FETs) fabricated using epitaxial graphene grown on silicon carbide. The achieved photoresponsivity (similar to 0.25 V/W) and noise equivalent power (similar to 80 nW/root Hz) result from the combined effect of two independent detection mechanisms: over-damped plasma wave rectification and thermoelectric effects, the latter ascribed to the presence of carrier density junctions along the FET channel. The calculated plasmonic and thermoelectric response reproduces qualitatively well the measured photovoltages; the experimentally observed sign-switch demonstrates the stronger contribution of plasmonic detection compared to the thermoelectric one. These results unveil the potential of plasmonic detectors exploiting epitaxial graphene on silicon carbide for fast large area imaging of macroscopic samples

Patterned tungsten disulfide/graphene heterostructures for efficient multifunctional optoelectronic devices

A patterned-growth, scalable fabrication strategy allows photodetectors with good electrical properties that show fast response with red light and persistent photocurrent with blue light