{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:06:26Z","timestamp":1790820386136,"version":"4.1.0"},"reference-count":94,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:00:00Z","timestamp":1593216000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["#19H03616"],"award-info":[{"award-number":["#19H03616"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["#19K07054"],"award-info":[{"award-number":["#19K07054"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["#105"],"award-info":[{"award-number":["#105"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research on Intractable Diseases, Ministry of Health, Labour and Welfare, Japan","award":["#073"],"award-info":[{"award-number":["#073"]}]},{"name":"Medical Research Encouragement Prize"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loss-of-function variants in CHST14 cause a dermatan 4-O-sulfotransferase deficiency named musculocontractural Ehlers\u2013Danlos syndrome-CHST14 (mcEDS-CHST14), resulting in complete depletion of the dermatan sulfate moiety of decorin glycosaminoglycan (GAG) chains, which is replaced by chondroitin sulfate. Recently, we uncovered structural alteration of GAG chains in the skin of patients with mcEDS-CHST14. Here, we conducted the first systematic investigation of Chst14 gene-deleted homozygote (Chst14\u2212\/\u2212) mice. We used skin samples of wild-type (Chst14+\/+) and Chst14\u2212\/\u2212 mice. Mechanical fragility of the skin was measured with a tensile test. Pathology was observed using light microscopy, decorin immunohistochemistry and electron microscopy (EM) including cupromeronic blue (CB) staining. Quantification of chondroitin sulfate and dermatan sulfate was performed using enzymatic digestion followed by anion-exchange HPLC. In Chst14\u2212\/\u2212 mice, skin tensile strength was significantly decreased compared with that in Chst14+\/+ mice. EM showed that collagen fibrils were oriented in various directions to form disorganized collagen fibers in the reticular layer. Through EM-based CB staining, rod-shaped linear GAG chains were found to be attached at one end to collagen fibrils and protruded outside of the fibrils, in contrast to them being round and wrapping the collagen fibrils in Chst14+\/+ mice. A very low level of dermatan sulfate disaccharides was detected in the skin of Chst14\u2212\/\u2212 mice by anion-exchange chromatography. Chst14\u2212\/\u2212 mice, exhibiting similar abnormalities in the GAG structure of decorin and collagen networks in the skin, could be a reasonable model for skin fragility of patients with mcEDS-CHST14, shedding light on the role of dermatan sulfate in maintaining skin strength.<\/jats:p>","DOI":"10.1093\/glycob\/cwaa058","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T11:17:23Z","timestamp":1592911043000},"page":"137-150","source":"Crossref","is-referenced-by-count":26,"title":["Systematic investigation of the skin in<i>Chst14\u2212\/\u2212<\/i>mice: A model for skin fragility in musculocontractural Ehlers\u2013Danlos syndrome caused by<i>CHST14<\/i>variants (mcEDS-<i>CHST14<\/i>)"],"prefix":"10.1093","volume":"31","author":[{"given":"Takuya","family":"Hirose","sequence":"first","affiliation":[{"name":"Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido 069-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Mizumoto","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Aichi 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayana","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Applied Protein Chemistry, Faculty of Agriculture, Tokyo University of Agriculture and Technology, Fuchu, Tokyo 183-0054, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Shinshu University Schoolof Medicine, Matsumoto, Nagano 390-8621, 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, Nagano 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Nitahara-Kasahara","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo-ku, Tokyo 113-0022, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido 069-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Takehana","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido 069-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo-ku, Tokyo 113-0022, Japan"},{"name":"Center for Gene and Cell Therapy, The Institute of Medical Science, The University of Tokyo, Minato-ku, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Applied Protein Chemistry, Faculty of Agriculture, Tokyo University of Agriculture and Technology, Fuchu, Tokyo 183-0054, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Aichi 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Shinshu University Schoolof Medicine, Matsumoto, Nagano 390-8621, Japan"},{"name":"Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan"},{"name":"Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Nagano 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takafumi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido 069-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,27]]},"reference":[{"key":"2021021011362936500_ref1","doi-asserted-by":"crossref","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":"2021021011362936500_ref2","doi-asserted-by":"crossref","first-page":"26165","DOI":"10.1074\/jbc.274.37.26165","article-title":"Cloning and expression of a proteoglycan UDP-galactose: \u03b2-xylose \u03b21,4-galactosyltransferase I: A seventh member of the human \u03b24-galactosyltransferase gene family","volume":"274","author":"Almeida","year":"1999","journal-title":"J Biol Chem."},{"key":"2021021011362936500_ref3","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000447017","article-title":"Molecular mechanisms of 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A."},{"key":"2021021011362936500_ref32","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmg.38.4.265","article-title":"Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family","volume":"38","author":"Janecke","year":"2001","journal-title":"J Med Genet."},{"key":"2021021011362936500_ref33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3160001","article-title":"Collagen fibril formation","volume":"316","author":"Kadler","year":"1996","journal-title":"Biochem J."},{"key":"2021021011362936500_ref34","doi-asserted-by":"crossref","first-page":"34766","DOI":"10.1074\/jbc.M204907200","article-title":"Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. 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Which name is appropriate, \"adducted thumb-clubfoot syndrome\" or \"Ehlers-Danlos syndrome\"","volume":"32","author":"Kosho","year":"2011","journal-title":"Hum Mutat."},{"key":"2021021011362936500_ref44","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/978-4-431-54240-7_156","volume-title":"Handbook of glycosyltransferases and related genes","author":"Kosho","year":"2014","edition":"2nd"},{"key":"2021021011362936500_ref45","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.a.30965","article-title":"Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls","volume":"138A","author":"Kosho","year":"2005","journal-title":"Am J Med Genet A."},{"key":"2021021011362936500_ref46","doi-asserted-by":"crossref","first-page":"287","DOI":"10.3109\/03008209709160228","article-title":"Increased diameters of collagen fibrils precipitated in vitro in the presence of decorin from various connective tissues","volume":"36","author":"Kuc","year":"1997","journal-title":"Connect Tissue Res."},{"key":"2021021011362936500_ref47","volume-title":"Essentials of glycobiology","author":"Lindahl","year":"2017","edition":"3rd"},{"key":"2021021011362936500_ref48","first-page":"491","volume-title":"Carbohydrate-peptide linkages in proteoglycans of animal, plant and bacterial origin","author":"Lindahl","year":"1972"},{"key":"2021021011362936500_ref49","doi-asserted-by":"crossref","first-page":"5517","DOI":"10.1128\/MCB.00430-09","article-title":"Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin","volume":"29","author":"Maccarana","year":"2009","journal-title":"Mol Cell Biol."},{"key":"2021021011362936500_ref50","doi-asserted-by":"crossref","first-page":"11560","DOI":"10.1074\/jbc.M513373200","article-title":"Biosynthesis of dermatan sulfate: 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