Ontology highlight
ABSTRACT:
SUBMITTER: Yuan B
PROVIDER: S-EPMC9233711 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
Yuan Baolei B Zhou Xuan X Suzuki Keiichiro K Ramos-Mandujano Gerardo G Wang Mengge M Tehseen Muhammad M Cortés-Medina Lorena V LV Moresco James J JJ Dunn Sarah S Hernandez-Benitez Reyna R Hishida Tomoaki T Kim Na Young NY Andijani Manal M MM Bi Chongwei C Ku Manching M Takahashi Yuta Y Xu Jinna J Qiu Jinsong J Huang Ling L Benner Christopher C Aizawa Emi E Qu Jing J Liu Guang-Hui GH Li Zhongwei Z Yi Fei F Ghosheh Yanal Y Shao Changwei C Shokhirev Maxim M Comoli Patrizia P Frassoni Francesco F Yates John R JR Fu Xiang-Dong XD Esteban Concepcion Rodriguez CR Hamdan Samir S Izpisua Belmonte Juan Carlos JC Li Mo M
Nature communications 20220625 1
The diverse functions of WASP, the deficiency of which causes Wiskott-Aldrich syndrome (WAS), remain poorly defined. We generated three isogenic WAS models using patient induced pluripotent stem cells and genome editing. These models recapitulated WAS phenotypes and revealed that WASP deficiency causes an upregulation of numerous RNA splicing factors and widespread altered splicing. Loss of WASP binding to splicing factor gene promoters frequently leads to aberrant epigenetic activation. WASP in ...[more]