{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:37:18Z","timestamp":1790473038499,"version":"4.1.0"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T00:00:00Z","timestamp":1590451200000},"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\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1074258"],"award-info":[{"award-number":["1074258"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["1058548"],"award-info":[{"award-number":["1058548"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australian Government Research Training Program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved. The only reported pathogenic mutations in human FGF9, FGF9S99N and FGF9R62G, are dominant and result in craniosynostosis (fusion of cranial sutures) or multiple synostoses (fusion of limb joints). Whether these synostosis-causing FGF9 mutations impact upon gonadal development and DSD etiology has not been explored. We therefore examined embryonic gonads in the well-characterized Fgf9 missense mouse mutants, Fgf9S99N and Fgf9N143T, which phenocopy the skeletal defects of FGF9S99N and FGF9R62G variants, respectively. XY Fgf9S99N\/S99N and XY Fgf9N143T\/N143T fetal mouse gonads showed severely disorganized testis cords and partial XY sex reversal at 12.5\u00a0days post coitum (dpc), suggesting loss of FGF9 function. By 15.5 dpc, testis development in both mutants had partly recovered. Mitotic analysis in vivo and in vitro suggested that the testicular phenotypes in these mutants arise in part through reduced proliferation of the gonadal supporting cells. These data raise the possibility that human FGF9 mutations causative for dominant skeletal conditions can also lead to loss of FGF9 function in the developing testis, at least in mice. Our data suggest that, in humans, testis development is largely tolerant of deleterious FGF9 mutations which lead to skeletal defects, thus offering an explanation as to why XY DSDs are rare in patients with pathogenic FGF9 variants.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa100","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T11:44:26Z","timestamp":1590147866000},"page":"2148-2161","source":"Crossref","is-referenced-by-count":14,"title":["Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes"],"prefix":"10.1093","volume":"29","author":[{"given":"Anthony D","family":"Bird","sequence":"first","affiliation":[{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia"},{"name":"Department of Molecular and Translational Science, Monash University, Clayton, VIC 3168, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany M","family":"Croft","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia"},{"name":"Department of Molecular and Translational Science, Monash University, Clayton, VIC 3168, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayo","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyun","family":"Tang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Rui-Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai 200025, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenhua","family":"Ming","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia"},{"name":"Department of Molecular and Translational Science, Monash University, Clayton, VIC 3168, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Bagheri-Fam","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Koopman","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhugang","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Rui-Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai 200025, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Akita","sequence":"additional","affiliation":[{"name":"Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent R","family":"Harley","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia"},{"name":"Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC 3800, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,5,26]]},"reference":[{"key":"2020080403103157300_ref1","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Consensus statement on management of intersex disorders","volume":"2","author":"Hughes","year":"2006","journal-title":"J. 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