{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T19:46:16Z","timestamp":1793389576464,"version":"4.5.0"},"reference-count":71,"publisher":"National Academy of Sciences","issue":"11","license":[{"start":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T00:00:00Z","timestamp":1741651200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["32090034 and 81874160"],"award-info":[{"award-number":["32090034 and 81874160"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Zhejiang Provincial Natural Science Foundation of China","award":["2022XHSJJ001"],"award-info":[{"award-number":["2022XHSJJ001"]}]},{"name":"\"Pioneer\" and \"Leading Goose\" R&D Program of Zhejiang","award":["2024SSYS0033"],"award-info":[{"award-number":["2024SSYS0033"]}]},{"name":"Hangzhou City Leading Innovation and Entrepreneurship Team","award":["TD2020004"],"award-info":[{"award-number":["TD2020004"]}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2025,3,18]]},"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic toggle=\"yes\">NBS1<\/jats:italic>\n                    gene result in Nijmegen breakage syndrome (NBS), and the gene encodes NBS1 that forms a complex with MRE11 and RAD50 and participates in DNA damage repair. However, the molecular mechanism by which\n                    <jats:italic toggle=\"yes\">NBS1<\/jats:italic>\n                    mutations cause clinical phenotypes of NBS, such as craniofacial dysmorphism, is still unclear. Here, we show that NBS1 localizes at the ribosomal DNA (rDNA) loci in nucleoli and interacts with ribosomal RNA (rRNA) transcription machinery including RNA polymerase I (Pol I) and TCOF1. Loss of NBS1 impairs Pol I-dependent transcription of pre-rRNA and induces nucleolar stress. In particular, lacking Nbs1 in mouse neural crest cells not only leads to the reduction of ribosome biogenesis but also craniofacial abnormalities during prenatal development. Moreover, the C-terminus of NBS1 is associated with pre-rRNA and a number of pre-rRNA processing factors, which may also facilitate pre-rRNA maturation. Taken together, our study reveals the functions of NBS1 in rRNA biogenesis.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2422029122","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:48:46Z","timestamp":1741700926000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":12,"title":["NBS1 facilitates preribosomal RNA biogenesis"],"prefix":"10.1073","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0947-5350","authenticated-orcid":false,"given":"Man","family":"Luo","sequence":"first","affiliation":[{"name":"School of Life Sciences, Fudan University","place":["Shanghai, China"]},{"name":"Westlake Laboratory of Life Sciences and Biomedicine","place":["Hangzhou, Zhejiang, China"]},{"name":"School of Life Sciences, Westlake University","place":["Hangzhou, Zhejiang, China"]},{"name":"Institute of Basic Medical Sciences, Westlake Institute for Advanced Study","place":["Hangzhou, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9840-2670","authenticated-orcid":false,"given":"Xiaochun","family":"Yu","sequence":"additional","affiliation":[{"name":"Westlake Laboratory of Life Sciences and Biomedicine","place":["Hangzhou, Zhejiang, China"]},{"name":"School of Life Sciences, Westlake University","place":["Hangzhou, Zhejiang, China"]},{"name":"Institute of Basic Medical Sciences, Westlake Institute for Advanced Study","place":["Hangzhou, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"e_1_3_5_1_2","doi-asserted-by":"publisher","DOI":"10.1086\/515461"},{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/301927"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81174-5"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81175-7"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1091496"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1108297"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb1090"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2022.12.003"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1155-1"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-13-3037"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2009.03.009"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0406289102"},{"key":"e_1_3_5_13_2","first-page":"153","article-title":"Ocular findings in Nijmegen breakage syndrome","volume":"113","author":"Gra\u0142ek M.","year":"2011","unstructured":"M. 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