Nature Communications (May 2020)
Somatic SF3B1 hotspot mutation in prolactinomas
- Chuzhong Li,
- Weiyan Xie,
- Jared S. Rosenblum,
- Jianyu Zhou,
- Jing Guo,
- Yazhou Miao,
- Yutao Shen,
- Hongyun Wang,
- Lei Gong,
- Mingxuan Li,
- Sida Zhao,
- Sen Cheng,
- Haibo Zhu,
- Tao Jiang,
- Shiying Ling,
- Fei Wang,
- Hongwei Zhang,
- Mingshan Zhang,
- Yanming Qu,
- Qi Zhang,
- Guilin Li,
- Junmei Wang,
- Jun Ma,
- Zhengping Zhuang,
- Yazhuo Zhang
Affiliations
- Chuzhong Li
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Weiyan Xie
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Jared S. Rosenblum
- Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health
- Jianyu Zhou
- Bioinformatics Division, Department of Computer Science and Technology, BNRIST, Tsinghua University
- Jing Guo
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Yazhou Miao
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Yutao Shen
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Hongyun Wang
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Lei Gong
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Mingxuan Li
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Sida Zhao
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Sen Cheng
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Haibo Zhu
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- Tao Jiang
- Bioinformatics Division, Department of Computer Science and Technology, BNRIST, Tsinghua University
- Shiying Ling
- Department of Neurosurgery, The First Affiliated Hospital of University of Science and Technology of China
- Fei Wang
- Department of Neurosurgery, The First Affiliated Hospital of University of Science and Technology of China
- Hongwei Zhang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University
- Mingshan Zhang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University
- Yanming Qu
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University
- Qi Zhang
- Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health
- Guilin Li
- Department of Neuropathology, Beijing Neurosurgical Institute, Capital Medical University
- Junmei Wang
- Department of Neuropathology, Beijing Neurosurgical Institute, Capital Medical University
- Jun Ma
- Department of Neuroimaging, Beijing Tiantan Hospital affiliated to Capital Medical University
- Zhengping Zhuang
- Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health
- Yazhuo Zhang
- Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University
- DOI
- https://doi.org/10.1038/s41467-020-16052-8
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 13
Abstract
The genetic basis of prolactinomas remains poorly understood. Here, the authors find a recurrent hotspot somatic mutation in the splicing factor 3 subunit B1 (SF3B1 R625H ) in prolactinomas, and show that this mutation causes aberrant splicing of ESRRG mRNA leading to up-regulation of prolactin.
