{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:30:22Z","timestamp":1773790222694,"version":"3.50.1"},"reference-count":71,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001700","name":"MEXT","doi-asserted-by":"publisher","award":["17K11611"],"award-info":[{"award-number":["17K11611"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"MEXT","doi-asserted-by":"publisher","award":["22K06295"],"award-info":[{"award-number":["22K06295"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"name":"JSPS KAKENHI","award":["JP16H06276"],"award-info":[{"award-number":["JP16H06276"]}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Trichorhinophalangeal syndrome (TRPS) is a genetic disorder caused by point mutations or deletions in the gene-encoding transcription factor TRPS1. TRPS patients display a range of skeletal dysplasias, including reduced jaw size, short stature, and a cone-shaped digit epiphysis. Certain TRPS patients experience early onset coxarthrosis that leads to a devastating drop in their daily activities. The etiologies of congenital skeletal abnormalities of TRPS were revealed through the analysis of Trps1 mutant mouse strains. However, early postnatal lethality in Trps1 knockout mice has hampered the study of postnatal TRPS pathology. Here, through epigenomic analysis we identified two previously uncharacterized candidate gene regulatory regions in the first intron of Trps1. We deleted these regions, either individually or simultaneously, and examined their effects on skeletal morphogenesis. Animals that were deleted individually for either region displayed only modest phenotypes. In contrast, the Trps1\u0394int\/\u0394int mouse strain with simultaneous deletion of both genomic regions exhibit postnatal growth retardation. This strain displayed delayed secondary ossification center formation in the long bones and misshaped hip joint development that resulted in acetabular dysplasia. Reducing one allele of the Trps1 gene in Trps1\u0394int mice resulted in medial patellar dislocation that has been observed in some patients with TRPS. Our novel Trps1 hypomorphic strain recapitulates many postnatal pathologies observed in human TRPS patients, thus positioning this strain as a useful animal model to study postnatal TRPS pathogenesis. Our observations also suggest that Trps1 gene expression is regulated through several regulatory elements, thus guaranteeing robust expression maintenance in skeletal cells.<\/jats:p>","DOI":"10.1093\/hmg\/ddae102","type":"journal-article","created":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T12:11:07Z","timestamp":1718885467000},"page":"1618-1629","source":"Crossref","is-referenced-by-count":1,"title":["Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice"],"prefix":"10.1093","volume":"33","author":[{"given":"Naoya","family":"Saeki","sequence":"first","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"},{"name":"Department of Special Needs Dentistry, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chizuko","family":"Inui-Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rinna","family":"Kanai","sequence":"additional","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"},{"name":"Department of Fixed Prosthodontics and Orofacial Function, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shousaku","family":"Itoh","sequence":"additional","affiliation":[{"name":"Department of Restorative Dentistry and Endodontology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Inubushi","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigehisa","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Special Needs Dentistry, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinsuke","family":"Ohba","sequence":"additional","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2823-0881","authenticated-orcid":false,"given":"Makoto","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry , Yamada-oka 1-8, Suita, Osaka 565-0871 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,6,20]]},"reference":[{"key":"2024090414104141900_ref1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/71717","article-title":"Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I","volume":"24","author":"Momeni","year":"2000","journal-title":"Nat Genet"},{"key":"2024090414104141900_ref2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1086\/316926","article-title":"Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III","volume":"68","author":"Ludecke","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2024090414104141900_ref3","first-page":"357","article-title":"Osteochondritis of the hip and the tricho-rhino-phalangeal syndrome","volume":"38","author":"Le Saout","year":"1984","journal-title":"Ann 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