医学创新论坛第68期

CIMR Wednesday Lecture Series

时间：2025年5月7日（周三）下午16:00

地点：首都医科大学基础科研楼北楼二层多功能厅

主持人：

李川源

首都医学科学创新中心

报告人：

俞晓春

教授

西湖大学生命科学学院

报告题目：

The role of DDR factors in ribosome biogenesis

摘要：

Germline mutations in NBS1 induce Nijmegen breakage syndrome (NBS), characterized by clinical phenotypes of craniofacial development defects. However, these clinical manifestations are not observed in genetic disorders caused by mutations in other subunits of the MRN (MRE11, RAD50, and NBS1) complex, suggesting that NBS1 has unique functions independent of the MRN complex. Here, we demonstrate that NBS1 localizes in the fibrillar center (FC) of nucleolus and promotes RNA polymerase I-mediated ribosomal RNA (rRNA) biogenesis. Using mouse models, we show that deletion of Nbs1 in neural crest cells disrupts rRNA biogenesis, leading to craniofacial development defects similar to those observed in NBS patients. Collectively, these findings uncover the molecular mechanism underlying the craniofacial abnormalities in NBS patients. Moreover, I will discuss the functions of other DNA damage repair factors in ribosome biogenesis.

代表性论文：