Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

• Published in: Nature Communications Vol. 13; no. 1; pp. 3646 - 20
• Main Authors: Yuan, Baolei, Zhou, Xuan, Suzuki, Keiichiro, Ramos-Mandujano, Gerardo, Wang, Mengge, Tehseen, Muhammad, Cortés-Medina, Lorena V., Moresco, James J., Dunn, Sarah, Hernandez-Benitez, Reyna, Hishida, Tomoaki, Kim, Na Young, Andijani, Manal M., Bi, Chongwei, Ku, Manching, Takahashi, Yuta, Xu, Jinna, Qiu, Jinsong, Huang, Ling, Benner, Christopher, Aizawa, Emi, Qu, Jing, Liu, Guang-Hui, Li, Zhongwei, Yi, Fei, Ghosheh, Yanal, Shao, Changwei, Shokhirev, Maxim, Comoli, Patrizia, Frassoni, Francesco, Yates, John R., Fu, Xiang-Dong, Esteban, Concepcion Rodriguez, Hamdan, Samir, Izpisua Belmonte, Juan Carlos, Li, Mo
• Format: Journal Article
• Language: English
• Published: London Springer Science and Business Media LLC 25.06.2022; Nature Publishing Group UK; Nature Publishing Group; Nature Portfolio
• Subjects: 13; 631/1647; 631/532; Alternative Splicing; Cell Nucleus; Condensates; Epigenetics; Gene expression; Generic health relevance; Genetics; Genome editing; Genomes; Human Genome; Humanities and Social Sciences; Humans; Laboratories; Liquid phases; multidisciplinary; Mutation; Pathogenesis; Phase separation; Phenotypes; Pluripotency; Proteins; Q; Rare Diseases; Ribonucleic acid; RNA; RNA Polymerase II; RNA Splicing Factors; RNA-Binding Proteins; Science; Science (multidisciplinary); Splicing; Splicing factors; Stem cells; Transcription factors; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein

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 cau...