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https://read.qxmd.com/read/29985992/bcl11b-mutations-in-patients-affected-by-a-neurodevelopmental-disorder-with-reduced-type-2-innate-lymphoid-cells
#1
JOURNAL ARTICLE
Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch
The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations in BCL11B...
August 1, 2018: Brain
https://read.qxmd.com/read/29482522/distinct-core-promoter-codes-drive-transcription-initiation-at-key-developmental-transitions-in-a-marine-chordate
#2
JOURNAL ARTICLE
Gemma B Danks, Pavla Navratilova, Boris Lenhard, Eric M Thompson
BACKGROUND: Development is largely driven by transitions between transcriptional programs. The initiation of transcription at appropriate sites in the genome is a key component of this and yet few rules governing selection are known. Here, we used cap analysis of gene expression (CAGE) to generate bp-resolution maps of transcription start sites (TSSs) across the genome of Oikopleura dioica, a member of the closest living relatives to vertebrates. RESULTS: Our TSS maps revealed promoter features in common with vertebrates, as well as striking differences, and uncovered key roles for core promoter elements in the regulation of development...
February 26, 2018: BMC Genomics
https://read.qxmd.com/read/25525214/trans-splicing-and-operons-in-metazoans-translational-control-in-maternally-regulated-development-and-recovery-from-growth-arrest
#3
JOURNAL ARTICLE
Gemma B Danks, Martina Raasholm, Coen Campsteijn, Abby M Long, J Robert Manak, Boris Lenhard, Eric M Thompson
Polycistronic mRNAs transcribed from operons are resolved via the trans-splicing of a spliced-leader (SL) RNA. Trans-splicing also occurs at monocistronic transcripts. The phlyogenetically sporadic appearance of trans-splicing and operons has made the driving force(s) for their evolution in metazoans unclear. Previous work has proposed that germline expression drives operon organization in Caenorhabditis elegans, and a recent hypothesis proposes that operons provide an evolutionary advantage via the conservation of transcriptional machinery during recovery from growth arrested states...
March 2015: Molecular Biology and Evolution
https://read.qxmd.com/read/23185044/oikobase-a-genomics-and-developmental-transcriptomics-resource-for-the-urochordate-oikopleura-dioica
#4
JOURNAL ARTICLE
Gemma Danks, Coen Campsteijn, Mrutyunjaya Parida, Stephen Butcher, Harsha Doddapaneni, Bolei Fu, Raul Petrin, Raghu Metpally, Boris Lenhard, Patrick Wincker, Daniel Chourrout, Eric M Thompson, J Robert Manak
We report the development of OikoBase (https://oikoarrays.biology.uiowa.edu/Oiko/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. OikoBase facilitates retrieval and mining of a variety of useful genomics information. First, it includes a genome browser which interrogates 1260 genomic sequence scaffolds and features gene, transcript and CDS annotation tracks. Second, we annotated gene models with gene ontology (GO) terms and InterPro domains which are directly accessible in the browser with links to their entries in the GO (https://www...
January 2013: Nucleic Acids Research
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