{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Falcon KT"],"funding":["Stowers Institute for Medical Research","NIDCR NIH HHS","American Association for Anatomy","HHS | NIH | National Institute of Dental and Craniofacial Research","NIGMS NIH HHS"],"pagination":["e2116974119"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9351356"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["119(31)"],"pubmed_abstract":["Ribosomal RNA (rRNA) transcription by RNA polymerase I (Pol I) is a critical rate-limiting step in ribosome biogenesis, which is essential for cell survival. Despite its global function, disruptions in ribosome biogenesis cause tissue-specific birth defects called ribosomopathies, which frequently affect craniofacial development. Here, we describe a cellular and molecular mechanism underlying the susceptibility of craniofacial development to disruptions in Pol I transcription. We show that Pol I subunits are highly expressed in the neuroepithelium and neural crest cells (NCCs), which generate most of the craniofacial skeleton. High expression of Pol I subunits sustains elevated rRNA transcription in NCC progenitors, which supports their high tissue-specific levels of protein translation, b"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development."],"pmcid":["PMC9351356"],"funding_grant_id":["DE030972","P20 GM130423","Postdoctoral Fellowship","DE030971","1008","R00 DE030972","K99 DE030972","K99 DE030971","DE13172","DE023017","F31 DE027860","F31 DE023017","R01 DE013172","DE027860"],"pubmed_authors":["Swanson S","Sardiu ME","Moore EL","Li L","Dash S","Fitriasari S","Zhao R","Sakai D","Unruh J","Achilleos A","Shiang R","Watt KEN","Dixon MJ","Tsuchiya D","Childers M","Bugarinovic G","Trainor PA","Falcon KT","Dixon J"],"additional_accession":[]},"is_claimable":false,"name":"Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.","description":"Ribosomal RNA (rRNA) transcription by RNA polymerase I (Pol I) is a critical rate-limiting step in ribosome biogenesis, which is essential for cell survival. Despite its global function, disruptions in ribosome biogenesis cause tissue-specific birth defects called ribosomopathies, which frequently affect craniofacial development. Here, we describe a cellular and molecular mechanism underlying the susceptibility of craniofacial development to disruptions in Pol I transcription. We show that Pol I subunits are highly expressed in the neuroepithelium and neural crest cells (NCCs), which generate most of the craniofacial skeleton. High expression of Pol I subunits sustains elevated rRNA transcription in NCC progenitors, which supports their high tissue-specific levels of protein translation, b","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-19T13:33:11.623Z","creation":"2025-04-19T13:33:11.623Z"},"accession":"S-EPMC9351356","cross_references":{"pubmed":["35881792"],"doi":["10.1073/pnas.2116974119"]}}