{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T06:43:03Z","timestamp":1764225783982,"version":"build-2065373602"},"reference-count":50,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T00:00:00Z","timestamp":1660780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Federal Ministry of Education and Research","doi-asserted-by":"publisher","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003107","name":"Federal Ministry of Health","doi-asserted-by":"publisher","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}],"id":[{"id":"10.13039\/501100003107","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Alexander von Humboldt Foundation","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}]},{"DOI":"10.13039\/501100001655","name":"German Academic Exchange Service","doi-asserted-by":"publisher","award":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"],"award-info":[{"award-number":["01DQ17004","EXC 22167- 390884018","2519FSB503","2020\/13421-8","57460069"]}],"id":[{"id":"10.13039\/501100001655","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in MYRF (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia. Since variants in MYRF have been described in both 46,XX and 46,XY GD, we assumed a role of MYRF in the early development of the bipotential gonad. We used publicly available single cell sequencing data of human testis and ovary from different developmental stages and analysed them for MYRF expression. We identified MYRF expression in the subset of coelomic epithelial cells at stages of gonadal ridge development in 46,XX and 46,XY individuals. Differential gene expression analysis revealed significantly upregulated genes. Within these, we identified CITED2 as a gene containing a MYRF binding site. It has been shown that Cited2\u2212\/\u2212 mice have gonadal defects in both testis and ovary differentiation, as well as defects in heart development and establishment of the left\u2013right axis. This makes MYRF a potential candidate as an early regulator of gonadal and heart development via upregulation of the transcriptional cofactor CITED2.<\/jats:p>","DOI":"10.3390\/jcm11164858","type":"journal-article","created":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T23:28:41Z","timestamp":1660865321000},"page":"4858","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["MYRF: A New Regulator of Cardiac and Early Gonadal Development\u2014Insights from Single Cell RNA Sequencing Analysis"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8653-3849","authenticated-orcid":false,"given":"Ver\u00f3nica","family":"Calonga-Sol\u00eds","sequence":"first","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"},{"name":"Medical Systems Biology Division, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2738-1814","authenticated-orcid":false,"given":"Helena","family":"Fabbri-Scallet","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"},{"name":"Center for Molecular Biology and Genetic Engineering\u2014CBMEG, State University of Campinas, Campinas 13083-875, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0959-2359","authenticated-orcid":false,"given":"Fabian","family":"Ott","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3020-3939","authenticated-orcid":false,"given":"Mostafa","family":"Al-Sharkawi","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"},{"name":"Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0692-2105","authenticated-orcid":false,"given":"Axel","family":"K\u00fcnstner","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutz","family":"W\u00fcnsch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4763-4521","authenticated-orcid":false,"given":"Hauke","family":"Busch","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3718-3595","authenticated-orcid":false,"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"},{"name":"Institute of Molecular Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.cell.2009.04.031","article-title":"Myelin gene regulatory factor is a critical transcriptional regulator required for CNS 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