NO. 68

CIMR Wednesday Lecture Series

Time:

Wednesday, May. 7 2025, 4:00 p.m.

Location:

Multi-Function Hall, 2nd Floor, North Basic Research Building

Host：

Chuan-Yuan Li (李川源)

Chinese Institutes for Medical Research, Beijing

Speaker：

Xiaochun Yu (俞晓春)

Professor

School of Life Sciences

Westlake University

TITLE：

The role of DDR factors in ribosome biogenesis

ABSTRACT:

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.

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