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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Autores principales: 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
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Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/03819aa8e3fa4e1cb3bc7de1641abf1b
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle 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
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