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Somatic SF3B1 hotspot mutation in prolactinomas

Authors :
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
Source :
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Publication Year :
2020
Publisher :
Nature Portfolio, 2020.

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
11
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.03819aa8e3fa4e1cb3bc7de1641abf1b
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-020-16052-8