{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T20:49:36Z","timestamp":1768510176607,"version":"3.49.0"},"posted":{"date-parts":[[2024,1,26]]},"group-title":"Developmental Biology","reference-count":33,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  <jats:italic>In vitro<\/jats:italic>\n                  modeling is a powerful approach to investigate the pathomechanisms driving human congenital conditions. Here we use human embryonic stem cells (hESCs) to model Nager and Rodriguez syndromes, two craniofacial conditions characterized by hypoplastic neural crest-derived craniofacial bones, caused by pathogenic variants of SF3B4, a core component of the spliceosome. We observed that siRNA-mediated knockdown of\n                  <jats:italic>SF3B4<\/jats:italic>\n                  interferes with the production of hESC-derived neural crest cells, as seen by a marked reduction in neural crest gene expression. This phenotype is associated with an increase in neural crest cell apoptosis and premature neuronal differentiation. Altogether these results point at a role of SF3B4 in neural crest cell survival, maintenance, and differentiation. We propose that the dysregulation of these processes may contribute to Nager\/Rodriguez syndrome associated craniofacial defects.\n                <\/jats:p>","DOI":"10.1101\/2024.01.25.577202","type":"posted-content","created":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T07:25:18Z","timestamp":1706253918000},"source":"Crossref","is-referenced-by-count":0,"title":["Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation"],"prefix":"10.64898","author":[{"given":"Casey","family":"Griffin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Pierre","family":"Saint-Jeannet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"issue":"6","key":"2024050603401210000_2024.01.25.577202v3.1","doi-asserted-by":"crossref","first-page":"dmm049544","DOI":"10.1242\/dmm.049544","article-title":"Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis","volume":"15","year":"2022","journal-title":"Dis Model Mech"},{"key":"2024050603401210000_2024.01.25.577202v3.2","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2017.169"},{"key":"2024050603401210000_2024.01.25.577202v3.3","doi-asserted-by":"publisher","DOI":"10.1002\/mrd.20809"},{"key":"2024050603401210000_2024.01.25.577202v3.4","doi-asserted-by":"publisher","DOI":"10.1038\/nature08733"},{"key":"2024050603401210000_2024.01.25.577202v3.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab051"},{"key":"2024050603401210000_2024.01.25.577202v3.6","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(86)90226-5"},{"key":"2024050603401210000_2024.01.25.577202v3.7","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.16.1974"},{"key":"2024050603401210000_2024.01.25.577202v3.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.02.010"},{"key":"2024050603401210000_2024.01.25.577202v3.9","doi-asserted-by":"publisher","DOI":"10.1159\/000082134"},{"issue":"9","key":"2024050603401210000_2024.01.25.577202v3.10","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1002\/dvdy.214","article-title":"Spliceosomopathies: diseases and mechanisms","volume":"249","year":"2020","journal-title":"Dev Dyn"},{"key":"2024050603401210000_2024.01.25.577202v3.11","doi-asserted-by":"crossref","unstructured":"Griffin, C. , Coppenrath, K. , Khan, D. , Juraver-Geslin, H. , Lin, Z. , Horb, M. , Saint-Jeannet, J.P. 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Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects and gene dysregulation across development and disrupts cranial neural crest cell migration and survival. bioRxiv.","DOI":"10.1101\/2024.01.31.578190"},{"key":"2024050603401210000_2024.01.25.577202v3.12","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(90)90255-H"},{"key":"2024050603401210000_2024.01.25.577202v3.13","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.05-12-03310.1985"},{"key":"2024050603401210000_2024.01.25.577202v3.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2023.04.004"},{"key":"2024050603401210000_2024.01.25.577202v3.15","doi-asserted-by":"crossref","first-page":"113215","DOI":"10.1016\/j.expneurol.2020.113215","article-title":"NeuroD1 overexpression in spinal neurons accelerates axonal regeneration after sciatic nerve injury","volume":"327","year":"2020","journal-title":"Exp Neurol"},{"key":"2024050603401210000_2024.01.25.577202v3.16","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2009.56"},{"key":"2024050603401210000_2024.01.25.577202v3.17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006307"},{"key":"2024050603401210000_2024.01.25.577202v3.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.08.060"},{"issue":"4","key":"2024050603401210000_2024.01.25.577202v3.19","first-page":"dev1891891","article-title":"Hes1 overexpression leads to expansion of embryonic neural stem cell pool and stem cell reservoir in the postnatal brain","volume":"148","year":"2021","journal-title":"Development"},{"issue":"3","key":"2024050603401210000_2024.01.25.577202v3.20","doi-asserted-by":"crossref","first-page":"29","DOI":"10.3390\/jdb10030029","article-title":"The core splicing factors EFTUD2, SNRPB and TXNL4A are essential for neural crest and craniofacial development","volume":"10","year":"2022","journal-title":"J Dev Biol"},{"key":"2024050603401210000_2024.01.25.577202v3.21","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050793"},{"key":"2024050603401210000_2024.01.25.577202v3.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2012.07.006"},{"key":"2024050603401210000_2024.01.25.577202v3.23","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5074-07.2008"},{"key":"2024050603401210000_2024.01.25.577202v3.24","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1901742116"},{"key":"2024050603401210000_2024.01.25.577202v3.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2023.05.008"},{"key":"2024050603401210000_2024.01.25.577202v3.26","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M703292200"},{"key":"2024050603401210000_2024.01.25.577202v3.27","doi-asserted-by":"crossref","unstructured":"Will, C.L. , Luhrmann, R. 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