Somatic SF3B1 hotspot mutation in prolactinomas
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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2020-05-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-020-16052-8 |
| _version_ | 1818842649042354176 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Chuzhong Li |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T04:45:19Z |
| format | Article |
| id | doaj.art-03819aa8e3fa4e1cb3bc7de1641abf1b |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-19T04:45:19Z |
| publishDate | 2020-05-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-03819aa8e3fa4e1cb3bc7de1641abf1b2022-12-21T20:35:30ZengNature PortfolioNature Communications2041-17232020-05-0111111310.1038/s41467-020-16052-8Somatic SF3B1 hotspot mutation in prolactinomasChuzhong Li0Weiyan Xie1Jared S. Rosenblum2Jianyu Zhou3Jing Guo4Yazhou Miao5Yutao Shen6Hongyun Wang7Lei Gong8Mingxuan Li9Sida Zhao10Sen Cheng11Haibo Zhu12Tao Jiang13Shiying Ling14Fei Wang15Hongwei Zhang16Mingshan Zhang17Yanming Qu18Qi Zhang19Guilin Li20Junmei Wang21Jun Ma22Zhengping Zhuang23Yazhuo Zhang24Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityNeuro-Oncology Branch, National Cancer Institute, National Institutes of HealthBioinformatics Division, Department of Computer Science and Technology, BNRIST, Tsinghua UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityBioinformatics Division, Department of Computer Science and Technology, BNRIST, Tsinghua UniversityDepartment of Neurosurgery, The First Affiliated Hospital of University of Science and Technology of ChinaDepartment of Neurosurgery, The First Affiliated Hospital of University of Science and Technology of ChinaDepartment of Neurosurgery, Sanbo Brain Hospital, Capital Medical UniversityDepartment of Neurosurgery, Sanbo Brain Hospital, Capital Medical UniversityDepartment of Neurosurgery, Sanbo Brain Hospital, Capital Medical UniversityNeuro-Oncology Branch, National Cancer Institute, National Institutes of HealthDepartment of Neuropathology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Neuropathology, Beijing Neurosurgical Institute, Capital Medical UniversityDepartment of Neuroimaging, Beijing Tiantan Hospital affiliated to Capital Medical UniversityNeuro-Oncology Branch, National Cancer Institute, National Institutes of HealthDepartment of Cell Biology, Beijing Neurosurgical Institute, Capital Medical UniversityThe 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.https://doi.org/10.1038/s41467-020-16052-8 |
| spellingShingle | 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 Somatic SF3B1 hotspot mutation in prolactinomas Nature Communications |
| title | Somatic SF3B1 hotspot mutation in prolactinomas |
| title_full | Somatic SF3B1 hotspot mutation in prolactinomas |
| title_fullStr | Somatic SF3B1 hotspot mutation in prolactinomas |
| title_full_unstemmed | Somatic SF3B1 hotspot mutation in prolactinomas |
| title_short | Somatic SF3B1 hotspot mutation in prolactinomas |
| title_sort | somatic sf3b1 hotspot mutation in prolactinomas |
| url | https://doi.org/10.1038/s41467-020-16052-8 |
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