{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:52:12Z","timestamp":1790722332893,"version":"4.1.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R21DE030561"],"award-info":[{"award-number":["R21DE030561"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE025870"],"award-info":[{"award-number":["R01DE025870"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE025870-06S1"],"award-info":[{"award-number":["R01DE025870-06S1"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE032036-01A1"],"award-info":[{"award-number":["R01DE032036-01A1"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cherubism (OMIM 118400) is a rare craniofacial disorder in children characterized by destructive jawbone expansion due to the growth of inflammatory fibrous lesions. Our previous studies have shown that gain-of-function mutations in SH3 domain-binding protein 2 (SH3BP2) are responsible for cherubism and that a knock-in mouse model for cherubism recapitulates the features of cherubism, such as increased osteoclast formation and jawbone destruction. To date, SH3BP2 is the only gene identified to be responsible for cherubism. Since not all patients clinically diagnosed with cherubism had mutations in SH3BP2, we hypothesized that there may be novel cherubism genes and that these genes may play a role in jawbone homeostasis. Here, using whole exome sequencing, we identified homozygous loss-of-function variants in the opioid growth factor receptor like 1 (OGFRL1) gene in 2 independent autosomal recessive cherubism families from Syria and India. The newly identified pathogenic homozygous variants were not reported in any variant databases, suggesting that OGFRL1 is a novel gene responsible for cherubism. Single cell analysis of mouse jawbone tissue revealed that Ogfrl1 is highly expressed in myeloid lineage cells. We generated OGFRL1 knockout mice and mice carrying the Syrian frameshift mutation to understand the in vivo role of OGFRL1. However, neither mouse model recapitulated human cherubism or the phenotypes exhibited by SH3BP2 cherubism mice under physiological and periodontitis conditions. Unlike bone marrow-derived M-CSF-dependent macrophages (BMMs) carrying the SH3BP2 cherubism mutation, BMMs lacking OGFRL1 or carrying the Syrian mutation showed no difference in TNF-\u0251 mRNA induction by LPS or TNF-\u0251 compared to WT BMMs. Osteoclast formation induced by RANKL was also comparable. These results suggest that the loss-of-function effects of OGFRL1 in humans differ from those in mice and highlight the fact that mice are not always an ideal model for studying rare craniofacial bone disorders.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziae050","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T14:01:08Z","timestamp":1712671268000},"source":"Crossref","is-referenced-by-count":7,"title":["Loss-of-function <i>OGFRL1<\/i> variants identified in autosomal recessive cherubism families"],"prefix":"10.1093","volume":"8","author":[{"given":"Mizuho","family":"Kittaka","sequence":"first","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyoshi","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Periodontal Medicine , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"},{"name":"Hiroshima University , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Morino","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences , Tokushima 770-8503 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Yoshimoto","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianli","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Indiana University Simon Comprehensive Cancer Center, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Okayama University Medical School , Okayama 700-8558 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kotoe","family":"Mayahara","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Nihon University School of Dentistry , Tokyo 101-8310 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyohei","family":"Iio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Graduate School of Medicine, , Kyoto 606-8507 , Japan"},{"name":"Kyoto University , Graduate School of Medicine, , Kyoto 606-8507 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Kondo","sequence":"additional","affiliation":[{"name":"Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital , Tokyo 113-8677 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Okayama University Medical School , Okayama 700-8558 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuhide","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Dental Materials Science, School of Dentistry, Aichi Gakuin University , Aichi 464-8650 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Coghlan","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yayoi","family":"Teno","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew Anh Phung","family":"Doan","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Levitan","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy B","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Anatomy , Cell Biology & Physiology, , Indianapolis, IN 46202 , United States"},{"name":"Indiana University School of Medicine , Cell Biology & Physiology, , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Periodontal Medicine , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"},{"name":"Hiroshima University , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhisa","family":"Ouhara","sequence":"additional","affiliation":[{"name":"Department of Periodontal Medicine , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"},{"name":"Hiroshima University , Graduate School of Biomedical and Health Sciences, , Hiroshima 734-8553 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wan","sequence":"additional","affiliation":[{"name":"Indiana University Simon Comprehensive Cancer Center, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelise M","family":"Cassidy","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Pelletier","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre , Kerala 682041 , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andoni J","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Institut de Myologie , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander G","family":"Robling","sequence":"additional","affiliation":[{"name":"Department of Anatomy , Cell Biology & Physiology, , Indianapolis, IN 46202 , United States"},{"name":"Indiana University School of Medicine , Cell Biology & Physiology, , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuaki","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Okayama University Medical School , Okayama 700-8558 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideshi","family":"Kawakami","sequence":"additional","affiliation":[{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University , Hiroshima 734-8553 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst J","family":"Reichenberger","sequence":"additional","affiliation":[{"name":"Department of Reconstructive Sciences , School of Dental Medicine, , CT 06030 , United States"},{"name":"University of Connecticut Health , School of Dental Medicine, , CT 06030 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyoshi","family":"Ueki","sequence":"additional","affiliation":[{"name":"Indiana Center for Musculoskeletal Health, Indiana University School of Medicine , Indianapolis, IN 46202 , United States"},{"name":"Department of Biomedical Sciences and Comprehensive Care, Indiana University School of Dentistry , Indianapolis, IN 46202 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,4,9]]},"reference":[{"issue":"Suppl 1","key":"2024050413210455800_ref1","doi-asserted-by":"crossref","first-page":"S6","DOI":"10.1186\/1750-1172-7-S1-S6","article-title":"Cherubism: best clinical practice","volume":"7","author":"Papadaki","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"Suppl 1","key":"2024050413210455800_ref2","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1186\/1750-1172-7-S1-S5","article-title":"The role of SH3BP2 in the pathophysiology of cherubism","volume":"7","author":"Reichenberger","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"2024050413210455800_ref3","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1016\/j.celrep.2014.08.023","article-title":"Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the 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