{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:05:41Z","timestamp":1791324341014,"version":"4.3.1"},"reference-count":46,"publisher":"The Company of Biologists","issue":"12","license":[{"start":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T00:00:00Z","timestamp":1640217600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Ministry of Health, Labor and Welfare"},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["19H03616JP"],"award-info":[{"award-number":["19H03616JP"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["19K07054JP"],"award-info":[{"award-number":["19K07054JP"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"crossref","award":["17ek0109105h0003"],"award-info":[{"award-number":["17ek0109105h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100009380","name":"Meijo University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009380","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in CHST14 encoding dermatan 4-O-sulfotransferase 1 (D4ST1) (mcEDS-CHST14). Here, we generated mouse models for mcEDS-CHST14 carrying homozygous mutations (1\u2005bp deletion or 6\u2005bp insertion\/10\u2005bp deletion) in Chst14 through CRISPR\/Cas9 genome engineering to overcome perinatal lethality in conventional Chst14-deleted knockout mice. DS depletion was detected in the skeletal muscle of these genome-edited mutant mice, consistent with loss of D4ST1 activity. The mutant mice showed common pathophysiological features, regardless of the variant, including growth impairment and skin fragility. Notably, we identified myopathy-related phenotypes. Muscle histopathology showed variation in fiber size and spread of the muscle interstitium. Decorin localized diffusely in the spread endomysium and perimysium of skeletal muscle, unlike in wild-type mice. The mutant mice showed lower grip strength and decreased exercise capacity compared to wild type, and morphometric evaluation demonstrated thoracic kyphosis in mutant mice. The established CRISPR\/Cas9-engineered Chst14 mutant mice could be a useful model to further our understanding of mcEDS pathophysiology and aid in the development of novel treatment strategies.<\/jats:p>","DOI":"10.1242\/dmm.048963","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T13:16:29Z","timestamp":1638364589000},"source":"Crossref","is-referenced-by-count":18,"title":["A new mouse model of Ehlers-Danlos syndrome generated using CRISPR\/Cas9-mediated genomic editing"],"prefix":"10.1242","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7119-5894","authenticated-orcid":false,"given":"Yuko","family":"Nitahara-Kasahara","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo 113-8603, Japan"},{"name":"Division of Molecular and Medical Genetics, Center for Gene and Cell Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4641-1505","authenticated-orcid":false,"given":"Shuji","family":"Mizumoto","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4105-9127","authenticated-orcid":false,"given":"Yukiko U.","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shota","family":"Saka","sequence":"additional","affiliation":[{"name":"Faculty of Agriculture, Tokyo University of Agriculture and Technology, Fuchu 183-8509, Japan"},{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1622-8571","authenticated-orcid":false,"given":"Guillermo","family":"Posadas-Herrera","sequence":"additional","affiliation":[{"name":"Division of Molecular and Medical Genetics, Center for Gene and Cell Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aki","family":"Nakamura-Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Tokyo Dental College, Tokyo 101-0061, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, 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Tokyo 113-8603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo 113-8603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunobu","family":"Maruoka","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo 113-8603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Yoshizawa","sequence":"additional","affiliation":[{"name":"Division of Animal Research, Research Center for Supports to Advanced Science, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiki","family":"Tanase","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Tokyo Dental College, Tokyo 101-0061, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-2150","authenticated-orcid":false,"given":"Takayoshi","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1284-9795","authenticated-orcid":false,"given":"Shuhei","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Nomura","sequence":"additional","affiliation":[{"name":"Faculty of Agriculture, Tokyo University of Agriculture and Technology, Fuchu 183-8509, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4780-6290","authenticated-orcid":false,"given":"Shin'ichi","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo 113-8603, Japan"},{"name":"Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8640, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Japan"},{"name":"Research Center for Supports to Advanced Science, Shinshu University, Matsumoto 390-8621, Japan"},{"name":"Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2910-3797","authenticated-orcid":false,"given":"Takashi","family":"Okada","sequence":"additional","affiliation":[{"name":"Division of Molecular and Medical Genetics, Center for Gene and Cell Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan"},{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,12,23]]},"reference":[{"key":"2021122310524032600_DMM048963C1","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.expneurol.2013.01.025","article-title":"Dermatan 4-O-sulfotransferase1 ablation accelerates peripheral nerve regeneration","volume":"247","author":"Aky\u00fcz","year":"2013","journal-title":"Exp. Neurol."},{"key":"2021122310524032600_DMM048963C2","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ajhg.2011.12.004","article-title":"Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss","volume":"90","author":"Baumann","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2021122310524032600_DMM048963C3","doi-asserted-by":"publisher","first-page":"4051","DOI":"10.1242\/jcs.088120","article-title":"Dermatan sulfotransferase Chst14\/D4st1, but not chondroitin sulfotransferase Chst11\/C4st1, regulates proliferation and neurogenesis of neural progenitor cells","volume":"124","author":"Bian","year":"2011","journal-title":"J. Cell Sci."},{"key":"2021122310524032600_DMM048963C4","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/ajmg.c.31550","article-title":"The Ehlers-Danlos syndromes, rare types","volume":"175","author":"Brady","year":"2017","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"2021122310524032600_DMM048963C5","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1078\/S0171-9335(04)70020-5","article-title":"Synthesis of proteoglycans is augmented in dystrophic mdx mouse skeletal muscle","volume":"79","author":"C\u00e1ceres","year":"2000","journal-title":"Eur. J. Cell Biol."},{"key":"2021122310524032600_DMM048963C6","doi-asserted-by":"publisher","first-page":"W242","DOI":"10.1093\/nar\/gky354","article-title":"CRISPOR: intuitive guide selection for CRISPR\/Cas9 genome editing experiments and screens","volume":"46","author":"Concordet","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"2021122310524032600_DMM048963C7","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1111\/j.1399-0004.1997.tb02417.x","article-title":"An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins","volume":"51","author":"Dundar","year":"1997","journal-title":"Clin. Genet."},{"key":"2021122310524032600_DMM048963C8","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/j.ajhg.2009.11.010","article-title":"Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome","volume":"85","author":"D\u00fcndar","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"2021122310524032600_DMM048963C9","doi-asserted-by":"publisher","first-page":"36344","DOI":"10.1074\/jbc.M105848200","article-title":"Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase","volume":"276","author":"Evers","year":"2001","journal-title":"J. Biol. 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Psychiatry"},{"key":"2021122310524032600_DMM048963C11","doi-asserted-by":"publisher","first-page":"735845","DOI":"10.1155\/2015\/735845","article-title":"Validation of simple sequence length polymorphism regions of commonly used mouse strains for marker assisted speed congenics screening","volume":"2015","author":"Gurumurthy","year":"2015","journal-title":"Int. J. Genomics"},{"key":"2021122310524032600_DMM048963C12","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.bbagen.2018.12.006","article-title":"Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14","volume":"1863","author":"Hirose","year":"2019","journal-title":"Biochim. Biophys. Acta Gen. Subj."},{"key":"2021122310524032600_DMM048963C13","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1093\/glycob\/cwaa058","article-title":"Systematic investigation of the skin in Chst14\u2212\/\u2212 mice: a model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14)","volume":"31","author":"Hirose","year":"2021","journal-title":"Glycobiology"},{"key":"2021122310524032600_DMM048963C14","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.freeradbiomed.2015.01.023","article-title":"Low intensity training of mdx mice reduces carbonylation and increases expression levels of proteins involved in energy metabolism and muscle contraction","volume":"82","author":"Hyzewicz","year":"2015","journal-title":"Free Radic. Biol. Med."},{"key":"2021122310524032600_DMM048963C15","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1146\/annurev.biochem.67.1.609","article-title":"Matrix proteoglycans: from molecular design to cellular function","volume":"67","author":"Iozzo","year":"1998","journal-title":"Annu. Rev. Biochem."},{"key":"2021122310524032600_DMM048963C16","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1002\/ajmg.a.37383","article-title":"The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations","volume":"170","author":"Janecke","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"2021122310524032600_DMM048963C17","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1111\/ped.12878","article-title":"CHST14\/D4ST1 deficiency: new form of Ehlers-Danlos syndrome","volume":"58","author":"Kosho","year":"2016","journal-title":"Pediat. Int."},{"key":"2021122310524032600_DMM048963C18","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1002\/ajmg.a.33498","article-title":"A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations","volume":"152A","author":"Kosho","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"2021122310524032600_DMM048963C19","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.1002\/humu.21586","article-title":"A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1\/CHST14) function represents the first dermatan sulfate biosynthesis defect, \u201cdermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome\u201d. Which name is appropriate, \u201cAdducted Thumb-Clubfoot Syndrome\u201d or \u201cEhlers-Danlos syndrome\u201d?","volume":"32","author":"Kosho","year":"2011","journal-title":"Hum. 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