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.
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Nature Portfolio
2020
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oai:doaj.org-article:03819aa8e3fa4e1cb3bc7de1641abf1b2021-12-02T15:45:24ZSomatic SF3B1 hotspot mutation in prolactinomas10.1038/s41467-020-16052-82041-1723https://doaj.org/article/03819aa8e3fa4e1cb3bc7de1641abf1b2020-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16052-8https://doaj.org/toc/2041-1723The 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.Chuzhong LiWeiyan XieJared S. RosenblumJianyu ZhouJing GuoYazhou MiaoYutao ShenHongyun WangLei GongMingxuan LiSida ZhaoSen ChengHaibo ZhuTao JiangShiying LingFei WangHongwei ZhangMingshan ZhangYanming QuQi ZhangGuilin LiJunmei WangJun MaZhengping ZhuangYazhuo ZhangNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020) |
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Science Q 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 |
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. |
format |
article |
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 |
title |
Somatic SF3B1 hotspot mutation in prolactinomas |
title_short |
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_sort |
somatic sf3b1 hotspot mutation in prolactinomas |
publisher |
Nature Portfolio |
publishDate |
2020 |
url |
https://doaj.org/article/03819aa8e3fa4e1cb3bc7de1641abf1b |
work_keys_str_mv |
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1718385731016065024 |