First identification of ITM2B interactome in the human retina
| Autor: | Christel Condroyer, Gilles Thuret, Isabelle Audo, Christelle Michiels, Christina Zeitz, Valérie Forster, Juliette Wohlschlegel, M. Argentini, Thibaut Léger, Zhiguo He, Camille Letellier |
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| Přispěvatelé: | Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie, Ingénierie et Imagerie de la Greffe de Cornée (EA 2521, JE2521, IFR143), Université Jean Monnet [Saint-Étienne] (UJM), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Institut Jacques Monod (IJM (UMR_7592)), Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Institute of Ophthalmology [London], University College of London [London] (UCL), Fondation de France, ANR-18-IAHU-0001, IHU FOReSIGHT, ANR-10-LABX-65, LABEX LIFESENSES, ANR-11-IDEX-0004-0, Agence Nationale de la Recherche, Retina France, UNADEV, [BR-GE-0619-0761-INSERM], Foundation Fighting Blindness grant, Gestionnaire, Hal Sorbonne Université, DES SENS POUR TOUTE LA VIE - - LIFESENSES2010 - ANR-10-LABX-0065 - LABX - VALID, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, Enabling Vision Restoration - - FOReSIGHT2018 - ANR-18-IAHU-0001 - IAHU - VALID, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Jean Monnet - Saint-Étienne (UJM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018), Biologie, Ingénierie et Imagerie pour l'Ophtalmologie (BIIO), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E) |
| Rok vydání: | 2020 |
| Předmět: |
Male
Proteomics Cerebellar Ataxia Proteome Science [SDV]Life Sciences [q-bio] Quantitative proteomics Neurophysiology Biology Interactome Retina Article 03 medical and health sciences 0302 clinical medicine medicine Missense mutation Humans Genetic Predisposition to Disease Integral membrane protein 030304 developmental biology Adaptor Proteins Signal Transducing Aged 80 and over 0303 health sciences Multidisciplinary Amyloid beta-Peptides Cerebellar ataxia Mass spectrometry Sequence Analysis DNA medicine.disease Transmembrane protein [SDV] Life Sciences [q-bio] HEK293 Cells Mutation Medicine Dementia Female Cerebral amyloid angiopathy Alzheimer's disease medicine.symptom Carrier Proteins Neuroscience 030217 neurology & neurosurgery Protein Binding |
| Zdroj: | Scientific Reports Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩ Scientific Reports, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩ Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-021-96571-6⟩ |
| Popis: | Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, we performed quantitative proteomics of ITM2B interactome of the human retina. Overall, 457 ITM2B partners were identified with 8 of them involved in visual transduction. In addition, bulk Gene Ontology analyses showed that many ITM2B partners are involved in several other biological functions, such as microtubule organization, protein translation and interestingly, mitochondrial homeostasis. These data represent the first report of the ITM2B interactome in the human retina and may serve as a valuable inventory of new potential ITM2B partners for future investigations of ITM2B physiological functions and dysfunctions. |
| Databáze: | OpenAIRE |
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