Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/3886
Title: The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease
Authors: Dhingani, Neel
Guo, Conghui
Pan, Jie
Li, Qi
Warner, Neil
Jardine, Sasha
Leung, Gabriella
Kotlarz, Daniel
Gonzaga-Jauregui, Claudia
Klein, Christoph
Snapper, Scott B.
Navas-López, Víctor Manuel
Muise, Aleixo M.
metadata.dc.contributor.authoraffiliation: [Dhingani,N; Jardine,S; Muise,AM] Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. [Dhingani,N; Guo,C; Pan,J; Li,Q; Warner,N; Jardine,S; Leung,G; Muise,AM] SickKids Infammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada. [Kotlarz,D; Klein,C] Department of Pediatrics, Dr. Von Hauner Children’s Hospital, University Hospital, LMU Munich, Munich, Germany. [Gonzaga-Jauregui,C] Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA. [Snapper,SB] Division of Gastroenterology, Hepatology and Nutrition, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA. [Navas-López,VM] Pediatric Gastroenterology and Nutrition Unit, IBIMA, Hospital Regional Universitario de Málaga, Málaga, Spain. [Muise,AM] Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. [Muise,AM] Department of Pediatrics, Institute of Medical Science, University of Toronto, Toronto, Canada. [Snapper,SB] Division of Gastroenterology, Brigham and Women’s Hospital, Boston, MA, USA.
Keywords: Child;Amino acid sequence;Inflammatory bowel diseases;Protein binding;Ubiquitin-protein ligases;Colitis;Niño;Secuencia de aminoácidos;Enfermedades inflamatorias del intestino;Unión proteica;Ubiquitina-proteína ligasas
metadata.dc.subject.mesh: Medical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Age Factors::Age of Onset
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Amino Acid Sequence
Medical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschool
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Inflammatory Bowel Diseases
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Protein Binding
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins
Sequence Homology, Amino Acid
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Signal Transduction
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Ligases::Ubiquitin-Protein Ligase Complexes::Ubiquitin-Protein Ligases
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Colonic Diseases::Colitis
Issue Date: 29-Oct-2020
Publisher: Springer Nature
Citation: Dhingani N, Guo C, Pan J, Li Q, Warner N, Jardine S, et al. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. Sci Rep. 2020 Oct 29;10(1):18648
Abstract: Very early onset inflammatory bowel disease (VEOIBD) denotes children with onset of IBD before six years of age. A number of monogenic disorders are associated with VEOIBD including tetratricopeptide repeat domain 7A (TTC7A) deficiency. TTC7A-deficiency is characterized by apoptotic colitis in milder cases with severe intestinal atresia and immunodeficiency in cases with complete loss of protein. We used whole exome sequencing in a VEOIBD patient presenting with colitis characterized by colonic apoptosis and no identified known VEOIBD variants, to identify compound heterozygous deleterious variants in the Ubiquitin protein ligase E3 component N-recognin 5 (UBR5) gene. Functional studies demonstrated that UBR5 co-immunoprecipitates with the TTC7A and the UBR5 variants had reduced interaction between UBR5 and TTC7A. Together this implicates UBR5 in regulating TTC7A signaling in VEOIBD patients with apoptotic colitis.
URI: http://hdl.handle.net/10668/3886
metadata.dc.relation.publisherversion: https://www.nature.com/articles/s41598-020-73482-6
metadata.dc.identifier.doi: 10.1038/s41598-020-73482-6
ISSN: 2045-2322 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - IBIMA. Instituto de Investigación Biomédica de Málaga

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