Gene List and Status

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GENE LIST AND STATUS Our first major project will seek to understand the organization and morphologies of the major intracellular structures and regulatory complexes in undifferentiated stem cells and cardiomyocytes derived from them. To do this, we will use genome-edited cell lines, tagged with fluorescent proteins, and light microscopy to determine the numbers, locations, and dynamic changes of these intracellular structures and regulatory complexes. This year, we hope to generate ~20 different FP-tagged isogenic hiPSC clonal lines representing 15-17 intracellular structures for live cell imaging. We plan to generate at least two clonal lines for each structure when possible. The table below shows the gene editing and cell line generation status to date. When completed, we plan to make these lines available to the research community. AICS# Structure Protein Gene FP Status AICS0005 Adhesions Paxillin PXN EGFP Available* AICS0012 Microtubules Alpha-tubulin TUBA1B mEGFP Available* AICS0031 Alpha-tubulin TUBA1B mTagRFP-T Screening & QC* AICS0011 Mitochondria TOM20 TOMM20 mEGFP Available* AICS0013 Nucleus LaminB1 LMNB1 mEGFP Available* AICS0029 LaminB1 LMNB1 tdTomato Screening & QC* AICS0017 Cell-cell junctions Desmoplakin DSP mEGFP Available* AICS0016 Actin Beta-actin ACTB mEGFP Completed* AICS0010 ER Sec61-beta SEC61B mEGFP Completed * AICS0014 Nucleolus Fibrillarin FBL mEGFP Completed * AICS0024 Myosin Myosin IIB MYH10 mEGFP Completed * AICS0032 Centrosome Centrin CETN2 mTagRFP-T Screening & QC* AICS0020 Intermediate Vimentin VIM mEGFP Screening & QC* filaments AICS0023 Tight junctions ZO-1 TJP1 mEGFP Completed * AICS0030 Autophagosomes LC3 MAP1LC3B mEGFP Screening & QC* AICS0036 Cytoplasm GFP AAVS1-CAG-GFP mEGFP Screening & QC* AICS0025 Golgi Beta-galactoside alpha- ST6GAL1 mEGFP Edited pool * 2,6-sialyltransferase 1 AICS0022 Lysosome LAMP1 LAMP1 mEGFP Edited pool* AICS0033 Peroxisome PMP34 SLC25A17 mEGFP Design phase AICS0040 Endosome Rab5A RAB5A mEGFP Design phase AICS0044 Plasma membrane CAAX-GFP AAVS1-CAG-GFP mEGFP Design phase CRISPR/Cas9 is used to introduce a green or red fluorescent protein at the endogenous locus of the genes listed above and the resulting gene-edited cells are enriched by flow cytometry (Pre-clonal edited pool). Subsequent clones generated from these edited pools are genotyped and subjected to both molecular and cellular QC (Screening & QC) followed by scale up and final QC including karyotype and sterility testing. Clones that have completed all QC steps are subjected to whole exome sequencing and RNA-Seq analysis. *Indicates confirmation of correct cellular localization by imaging. February 2017 v.1.0 cellscience.alleninstitute.org Gene List and Status page 1 of 1 .

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Plakoglobin Is Required for Effective Intermediate Filament Anchorage to Desmosomes Devrim Acehan1, Christopher Petzold1, Iwona Gumper2, David D
ORIGINAL ARTICLE Plakoglobin Is Required for Effective Intermediate Filament Anchorage to Desmosomes Devrim Acehan1, Christopher Petzold1, Iwona Gumper2, David D. Sabatini2, Eliane J. Mu¨ller3, Pamela Cowin2,4 and David L. Stokes1,2,5 Desmosomes are adhesive junctions that provide mechanical coupling between cells. Plakoglobin (PG) is a major component of the intracellular plaque that serves to connect transmembrane elements to the cytoskeleton. We have used electron tomography and immunolabeling to investigate the consequences of PG knockout on the molecular architecture of the intracellular plaque in cultured keratinocytes. Although knockout keratinocytes form substantial numbers of desmosome-like junctions and have a relatively normal intercellular distribution of desmosomal cadherins, their cytoplasmic plaques are sparse and anchoring of intermediate filaments is defective. In the knockout, b-catenin appears to substitute for PG in the clustering of cadherins, but is unable to recruit normal levels of plakophilin-1 and desmoplakin to the plaque. By comparing tomograms of wild type and knockout desmosomes, we have assigned particular densities to desmoplakin and described their interaction with intermediate filaments. Desmoplakin molecules are more extended in wild type than knockout desmosomes, as if intermediate filament connections produced tension within the plaque. On the basis of our observations, we propose a particular assembly sequence, beginning with cadherin clustering within the plasma membrane, followed by recruitment of plakophilin and desmoplakin to the plaque, and ending with anchoring of intermediate filaments, which represents the key to adhesive strength. Journal of Investigative Dermatology (2008) 128, 2665–2675; doi:10.1038/jid.2008.141; published online 22 May 2008 INTRODUCTION dense plaque that is further from the membrane and that Desmosomes are large macromolecular complexes that mediates the binding of intermediate filaments.
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Desmoplakin Assembly Dynamics in Four Dimensions
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Genetic Cardiomyopathies: the Lesson Learned from Hipscs
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Current Understanding of the Role of Cytoskeletal Cross-Linkers in the Onset and Development of Cardiomyopathies
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Desmosome Structure, Composition and Function ⁎ David Garrod A, Martyn Chidgey B
CORE Metadata, citation and similar papers at core.ac.uk Provided by Elsevier - Publisher Connector Available online at www.sciencedirect.com Biochimica et Biophysica Acta 1778 (2008) 572–587 www.elsevier.com/locate/bbamem Review Desmosome structure, composition and function ⁎ David Garrod a, Martyn Chidgey b, a Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK b Division of Medical Sciences, University of Birmingham, Clinical Research Block, Queen Elizabeth Hospital, Birmingham B15 2TH, UK Received 24 May 2007; received in revised form 19 July 2007; accepted 20 July 2007 Available online 9 August 2007 Abstract Desmosomes are intercellular junctions of epithelia and cardiac muscle. They resist mechanical stress because they adopt a strongly adhesive state in which they are said to be hyper-adhesive and which distinguishes them from other intercellular junctions; desmosomes are specialised for strong adhesion and their failure can result in diseases of the skin and heart. They are also dynamic structures whose adhesiveness can switch between high and low affinity adhesive states during processes such as embryonic development and wound healing, the switching being signalled by protein kinase C. Desmosomes may also act as signalling centres, regulating the availability of signalling molecules and thereby participating in fundamental processes such as cell proliferation, differentiation and morphogenesis. Here we consider the structure, composition and function of desmosomes, and their role in embryonic development and disease. © 2007 Elsevier B.V. All rights reserved. Contents 1. Introduction .............................................................. 573 1.1. The strength of the desmosome–intermediate filament complex ................................ 573 1.2. Desmosomes resist mechanical stress because they are hyper-adhesive .
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Study of the Desmoplakin Protein using Nuclear Magnetic Resonance Spectroscopy and its Interaction with Gold Nanoclusters using Atomic Force Microscopy Penélope Rodr´ıguezZamora A thesis submitted for the degree of Doctor of Philosophy Nanoscale Physics Research Laboratory School of Physics and Astronomy THE UNIVERSITY OF BIRMINGHAM October 2013 University of Birmingham Research Archive e-theses repository This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder. Study of the Desmoplakin Protein using Nuclear Magnetic Resonance Spectroscopy and its Interaction with Gold Nanoclusters using Atomic Force Micrsocopy by Penélope Rodr´ıguez Zamora Nanoscale Physics Research Laboratory School of Physics and Astronomy THE UNIVERSITY OF BIRMINGHAM Abstract Desmoplakin is a cytolinker protein that establishes connections with the cell cytoskele- ton and to anchoring junctions at the cell membrane, providing the adaptable structural rigidity within the skin and heart cells required to accommodate shear forces and main- tain tissue integrity. While the C terminal of desmoplakin, composed of three plakin repeat domains and a linker domain, is in charge of intermediate filament binding, the N terminal end, consisting of a plakin domain (PD), is responsible for plaque attachment and interaction with other desmosomal components.
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Downloaded from http://cshperspectives.cshlp.org/ on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press Desmosomes and Intermediate Filaments: Their Consequences for Tissue Mechanics Mechthild Hatzfeld,1 Rene´Keil,1 and Thomas M. Magin2 1Institute of Molecular Medicine, Division of Pathobiochemistry, Martin-Luther-University Halle-Wittenberg, 06114 Halle, Germany 2Institute of Biology, Division of Cell and Developmental Biology and Saxonian Incubator for Clinical Translation (SIKT), University of Leipzig, 04103 Leipzig, Germany Correspondence: [email protected]; [email protected] Adherens junctions (AJs) and desmosomes connect the actin and keratin ﬁlament networks of adjacent cells into a mechanical unit. Whereas AJs function in mechanosensing and in transducing mechanical forces between the plasma membrane and the actomyosin cyto- skeleton, desmosomes and intermediate ﬁlaments (IFs) provide mechanical stability required to maintain tissue architecture and integrity when the tissues are exposed to mechanical stress. Desmosomes are essential for stable intercellular cohesion, whereas keratins deter- mine cell mechanics but are not involved in generating tension. Here, we summarize the current knowledge of the role of IFs and desmosomes in tissue mechanics and discuss whether the desmosome–keratin scaffold might be actively involved in mechanosensing and in the conversion of chemical signals into mechanical strength. he majority of tissues are constantly exposed epithelia that line organ and body surfaces to Tto external forces, such as mechanical load, provide structural support and serve as barriers stretch, and shear stress, in addition to intrinsic against diverse external stressors such as me- forces generated by contractile elements inside chanical force, pathogens, toxins, and dehydra- tissues.
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The Role of Desmosomal Cadherins in Colorectal Tumourigenesis
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Report Mutation in Human Desmoplakin Domain Binding To
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