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The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease
- Source :
- Scientific Reports, Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
- Publication Year :
- 2019
-
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.
- Subjects :
- 0301 basic medicine
Male
Enfermedades inflamatorias del intestino
lcsh:Medicine
Compound heterozygosity
Inflammatory bowel disease
Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Inflammatory Bowel Diseases [Medical Subject Headings]
Unión proteica
Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]
0302 clinical medicine
Age of Onset
lcsh:Science
Child
Immunodeficiency
Exome sequencing
Multidisciplinary
biology
Intestinal atresia
Gastroenterology
Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Signal Transduction [Medical Subject Headings]
Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins [Medical Subject Headings]
Colitis
3. Good health
Ubiquitin ligase
Ubiquitin-protein ligases
Tetratricopeptide
030220 oncology & carcinogenesis
Niño
Child, Preschool
Protein Binding
Signal Transduction
Cell biology
Ubiquitin-Protein Ligases
Check Tags::Male [Medical Subject Headings]
Inflammatory bowel diseases
Article
Amino acid sequence
03 medical and health sciences
Ubiquitina-proteína ligasas
Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Protein Binding [Medical Subject Headings]
medicine
Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Ligases::Ubiquitin-Protein Ligase Complexes::Ubiquitin-Protein Ligases [Medical Subject Headings]
Protein binding
Humans
Secuencia de aminoácidos
Amino Acid Sequence
Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Age Factors::Age of Onset [Medical Subject Headings]
Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Colonic Diseases::Colitis [Medical Subject Headings]
Sequence Homology, Amino Acid
business.industry
lcsh:R
Proteins
medicine.disease
Inflammatory Bowel Diseases
030104 developmental biology
Immunology
biology.protein
Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Amino Acid Sequence [Medical Subject Headings]
lcsh:Q
business
Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings]
Subjects
Details
- ISSN :
- 20452322
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Scientific reports
- Accession number :
- edsair.doi.dedup.....55264831473780af49e1cc632ddabc4d