دورية أكاديمية
أعرض في EDS

Accelerating functional gene discovery in osteoarthritis.

التفاصيل البيبلوغرافية
العنوان: Accelerating functional gene discovery in osteoarthritis.
المؤلفون: Butterfield NC; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Steinberg J; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; Cancer Council NSW, Sydney, NSW, 2000, Australia., Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Komla-Ebri D; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Logan JG; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Waung JA; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Ghirardello E; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Southam L; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Youlten SE; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Wilkinson JM; Department of Oncology and Metabolism, University of Sheffield, Sheffield, S10 2RX, UK.; Centre for Integrated Research into Musculoskeletal Ageing and Sheffield Healthy Lifespan Institute, University of Sheffield, Sheffield, S10 2TN, UK., McAninch EA; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, IL, 60612, USA., Vancollie VE; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Kussy F; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., White JK; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; The Jackson Laboratory, Bar Harbor, ME, 04609, USA., Lelliott CJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Adams DJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Jacques R; School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, S1 4DA, UK., Bianco AC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, IL, 60637, USA., Boyde A; Dental Physical Sciences, Queen Mary University of London, Mile End Road, London, E1 4NS, UK., Zeggini E; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Croucher PI; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. graham.williams@imperial.ac.uk., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. d.bassett@imperial.ac.uk.
المصدر: Nature communications [Nat Commun] 2021 Jan 20; Vol. 12 (1), pp. 467. Date of Electronic Publication: 2021 Jan 20.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Genetic Association Studies*, Genetic Predisposition to Disease/*genetics , Osteoarthritis/*genetics, Animals ; Bone and Bones/pathology ; CRISPR-Cas Systems ; Cartilage/pathology ; Clustered Regularly Interspaced Short Palindromic Repeats ; Disease Models, Animal ; Drug Discovery ; Gene Editing ; Gonadotropin-Releasing Hormone/genetics ; Iodide Peroxidase ; Mice ; Mice, Knockout ; Osteoarthritis/pathology ; Osteoarthritis/surgery ; Paired Box Transcription Factors/genetics ; Phenotype ; Iodothyronine Deiodinase Type II
مستخلص: Osteoarthritis causes debilitating pain and disability, resulting in a considerable socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques to identify abnormal joint phenotypes in randomly selected mutant mice generated by the International Knockout Mouse Consortium. We identify 14 genes with functional involvement in osteoarthritis pathogenesis, including the homeobox gene Pitx1, and functionally characterize 6 candidate human osteoarthritis genes in mouse models. We demonstrate sensitivity of the methods by identifying age-related degenerative joint damage in wild-type mice. Finally, we phenotype previously generated mutant mice with an osteoarthritis-associated polymorphism in the Dio2 gene by CRISPR/Cas9 genome editing and demonstrate a protective role in disease onset with public health implications. We hope this expanding resource of mutant mice will accelerate functional gene discovery in osteoarthritis and offer drug discovery opportunities for this common, incapacitating chronic disease.
التعليقات: Erratum in: Nat Commun. 2021 May 28;12(1):3302. (PMID: 34050183)
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معلومات مُعتمدة: 110141/Z/15/Z United Kingdom WT_ Wellcome Trust; 110140 United Kingdom WT_ Wellcome Trust; 110141 United Kingdom WT_ Wellcome Trust; 206194 United Kingdom WT_ Wellcome Trust; R01 DK065055 United States DK NIDDK NIH HHS; United Kingdom WT_ Wellcome Trust; 098051 United Kingdom WT_ Wellcome Trust; 101123 United Kingdom WT_ Wellcome Trust
المشرفين على المادة: 0 (Paired Box Transcription Factors)
0 (homeobox protein PITX1)
33515-09-2 (Gonadotropin-Releasing Hormone)
EC 1.11.1.8 (Iodide Peroxidase)
تواريخ الأحداث: Date Created: 20210121 Date Completed: 20210201 Latest Revision: 20240117
رمز التحديث: 20240117
مُعرف محوري في PubMed: PMC7817695
DOI: 10.1038/s41467-020-20761-5
PMID: 33473114
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-020-20761-5