• Germline de novo mutation rates on exons versus introns in humans

  Rodríguez Galindo, Miguel; Casillas, Sònia; Weghorn, Donate; Barbadilla, Antonio (Nature Research, 2020)

  A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared ...
• Aging-dependent genetic effects associated to ADHD predict longitudinal changes of ventricular volumes in adulthood

  Vilor Tejedor, Natàlia, 1988-; Ikram, Mohammad Arfan; Roshchupkin, Gennady V.; Vinke, Elisabeth J.; Vernooij, Meike W.; Adams, Hieab H. (Frontiers, 2020)

  Background: Attention-Deficit/Hyperactivity Disorder (ADHD) is a childhood-onset disorder that can persist into adult life. Most genetic studies have focused on investigating biological mechanisms of ADHD during childhood. ...
• Bacillus firmus strain I-1582, a nematode antagonist by itself and through the plant

  Ghahremani, Zahra; Escudero, Nuria; Beltrán Anadón, Daniel; Saus Martínez, Ester; Cunquero, Marina; Andilla, Jordi; Loza-Alvarez, Pablo; Gabaldón Estevan, Juan Antonio, 1973-; Sorribas, F. Javier (Frontiers, 2020)

  Bacillus firmus I-1582 is approved in Europe for the management of Meloidogyne on vegetable crops. However, little information about its modes of action and temperature requirements is available, despite the effect of these ...
• Satellite cells and markers of muscle regeneration during unloading and reloading: effects of treatment with resveratrol and curcumin

  Mañas-García, Laura; Guitart, Maria; Duran Jordà, Xavier, 1974-; Barreiro Portela, Esther (MDPI, 2020)

  We hypothesized that treatment with pharmacological agents known to increase sirtuin-1 activity (resveratrol and curcumin) may enhance muscle regeneration. In limb muscles of mice (C57BL/6J, 10 weeks) exposed to reloading ...
• Down syndrome is a metabolic disease: altered insulin signaling mediates peripheral and brain dysfunctions

  Dierssen, Mara; Fructuoso, Marta; Martínez de Lagrán Cabredo, María; Perluigi, Marzia; Barone, Eugenio (Frontiers, 2020)

  Down syndrome (DS) is the most frequent chromosomal abnormality that causes intellectual disability, resulting from the presence of an extra complete or segment of chromosome 21 (HSA21). In addition, trisomy of HSA21 ...
• Calibrating seed-based heuristics to map short reads with sesame

  Filion, Guillaume; Cortini, Ruggero; Zorita, Eduard (Frontiers, 2020)

  The increasing throughput of DNA sequencing technologies creates a need for faster algorithms. The fate of most reads is to be mapped to a reference sequence, typically a genome. Modern mappers rely on heuristics to gain ...
• Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy

  Martone, Julie; Lisi, Michela; Castagnetti, Francesco; Rosa, Alessandro; Di Carlo, Valerio; Blanco, Enrique; Setti, Adriano; Mariani, Davide; Colantoni, Alessio; Santini, Tiziana; Perone, Lucia; Di Croce, Luciano; Bozzoni, Irene (UNLISTED PUBLISHER, 2020)

  Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools. Here, we ...
• IL18 signaling promotes homing of mature Tregs into the thymus

  Peligero Cruz, Cristina, 1986-; Givony, Tal; Sebé-Pedrós, Arnau; Dobeš, Jan; Kadouri, Noam; Nevo, Shir; Roncato, Francesco; Alon, Ronen; Goldfarb, Yael; Abramson, Jakub (eLife, 2020)

  Foxp3+ regulatory T cells (Tregs) are potent suppressor cells, essential for the maintenance of immune homeostasis. Most Tregs develop in the thymus and are then released into the immune periphery. However, some Tregs ...
• Impact of C-terminal amino acid composition on protein expression in bacteria

  Weber, Marc; Burgos, Raul; Yus, Eva; Yang, Jae-Seong; Lluch-Senar, Maria 1982-; Serrano Pubull, Luis, 1982- (EMBO Press, 2020)

  The C-terminal sequence of a protein is involved in processes such as efficiency of translation termination and protein degradation. However, the general relationship between features of this C-terminal sequence and levels ...
• Ancient genomic regulatory blocks are a source for regulatory gene deserts in vertebrates after whole-genome duplications

  Touceda-Suárez, María; Kita, Elizabeth M.; Acemel, Rafael D.; Firbas, Panos N.; Magri, Marta S.; Naranjo, Silvia; Tena, Juan J.; Gómez Skarmeta, José Luis; Maeso, Ignacio; Irimia, Manuel (Oxford University Press (OUP), 2020)

  We investigated how the two rounds of whole-genome duplication that occurred at the base of the vertebrate lineage have impacted ancient microsyntenic associations involving developmental regulators (known as genomic ...
• Selection following gene duplication shapes recent genome evolution in the pea aphid acyrthosiphon pisum

  Fernández, Rosa; Marcet Houben, Marina; Legeai, Fabrice; Richard, Gautier; Robin, Stéphanie; Wucher, Valentin; Pegueroles Queralt, Maria Cinta; Gabaldón Estevan, Juan Antonio, 1973-; Tagu, Denis (Oxford University Press (OUP), 2020)

  Ecology of insects is as wide as their diversity, which reflects their high capacity of adaptation in most of the environments of our planet. Aphids, with over 4,000 species, have developed a series of adaptations including ...
• Identification of enhancer-promoter contacts in embryoid bodies by quantitative chromosome conformation capture (4C)

  Tian, Tian V.; Vidal Ocabo, Enrique; Graf, T. (Thomas); Stik, Grégoire (MyJove Corporation, 2020)

  During mammalian development, cell fates are determined through the establishment of regulatory networks that define the specificity, timing, and spatial patterns of gene expression. Embryoid bodies (EBs) derived from ...
• Pseudo-RNA-binding domains mediate RNA structure specificity in upstream of N-Ras

  Hollmann, Nele Merret; Jagtap, Pravin Kumar Ankush; Masiewicz, Pawel; Guitart, Tanit; Simon, Bernd; Provaznik, Jan; Stein, Frank; Haberkant, Per; Sweetapple, Lara Jayne; Villacorta, Laura; Mooijman, Dylan; Benes, Vladimir; Savitski, Mikhail M.; Gebauer, Fátima; Hennig, Janosch (Elsevier, 2020)

  RNA-binding proteins (RBPs) commonly feature multiple RNA-binding domains (RBDs), which provide these proteins with a modular architecture. Accumulating evidence supports that RBP architectural modularity and adaptability ...
• HOTAIRM1 regulates neuronal differentiation by modulating NEUROGENIN 2 and the downstream neurogenic cascade

  Rea, Jessica; Menci, Valentina; Tollis, Paolo; Santini, Tiziana; Armaos, Alexandros, 1989-; Garone, Maria Giovanna; Iberite, Federica; Cipriano, Andrea; Tartaglia, Gian Gaetano; Rosa, Alessandro; Ballarino, Monica; Laneve, Pietro; Caffarelli, Elisa (Nature Research, 2020)

  Neuronal differentiation is a timely and spatially regulated process, relying on precisely orchestrated gene expression control. The sequential activation/repression of genes driving cell fate specification is achieved by ...
• The DYRK family of kinases in cancer: molecular functions and therapeutic opportunities

  Boni, Jacopo; Rubio Pérez, Carlota, 1990-; López Bigas, Núria; Fillat i Fonts, Cristina; Luna, Susana de la (MDPI, 2020)

  DYRK (dual-specificity tyrosine-regulated kinases) are an evolutionary conserved family of protein kinases with members from yeast to humans. In humans, DYRKs are pleiotropic factors that phosphorylate a broad set of ...
• Transcriptomic differences in MSA clinical variants

  Pérez Soriano, Alexandra; Arnal, Magdalena; Botta Orfila, Teresa; Giraldo, Darly; Fernández, Manel; Compta, Yaroslau; Fernández-Santiago, Ruben; Ezquerra, Mario; Tartaglia, Gian Gaetano; Martí, M. Josep; Catalan multiple system atrophy-registry (CMSAR) (Nature Research, 2020)

  Background: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C). ...
• Characterization of different alginate lyases for dissolving Pseudomonas aeruginosa biofilms

  Blanco Cabra, Núria; Paetzold, Bernhard, 1981-; Ferrar, Tony; Mazzolini, Rocco; Torrents, Eduard; Serrano Pubull, Luis, 1982-; Lluch-Senar, Maria 1982- (Nature Research, 2020)

  Aggregates of Pseudomonas aeruginosa form a protective barrier against antibiotics and the immune system. These barriers, known as biofilms, are associated with several infectious diseases. One of the main components of ...
• The chromatin landscape at the HIV-1 provirus integration site determines viral expression

  Vansant, Gerlinde; Chen, Heng-Chang; Zorita, Eduard; Trejbalová, Katerina; Miklík, Dalibor; Filion, Guillaume; Debyser, Zeger (Oxford University Press, 2020)

  HIV-1 persists lifelong in memory cells of the immune system as latent provirus that rebounds upon treatment interruption. Therefore, the latent reservoir is the main target for an HIV cure. Here, we studied the direct ...
• Atomic-resolution mapping of transcription factor-DNA interactions by femtosecond laser crosslinking and mass spectrometry

  Reim, Alexander; Ackermann, Roland; Font Mateu, Jofre, 1977-; Kammel, Robert; Beato, Miguel; Nolte, Stefan; Mann, Matthias; Russmann, Christoph; Wierer, Michael, 1982- (Nature Research, 2020)

  Transcription factors (TFs) regulate target genes by specific interactions with DNA sequences. Detecting and understanding these interactions at the molecular level is of fundamental importance in biological and clinical ...
• Plasma-derived extracellular vesicles from Plasmodium vivax patients signal spleen fibroblasts via NF-kB facilitating parasite cytoadherence

  Toda, Haruka; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; del Portillo, Hernando A. (Nature Research, 2020)

  Plasmodium vivax is the most widely distributed human malaria parasite. Previous studies have shown that circulating microparticles during P. vivax acute attacks are indirectly associated with severity. Extracellular ...

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