Article
GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
Molecular cell - 16 May 2024
Benbarche Salima, Pineda Jose Mario Bello, Galvis Laura Baquero, Biswas Jeetayu, Liu Bo, Wang Eric, Zhang Qian, Hogg Simon J, Lyttle Kadeen, Dahi Ariana, Lewis Alexander M, Sarchi Martina, Rahman Jahan, Fox Nina, Ai Yuxi, Mehta Sanjoy, Garippa Ralph, Ortiz-Pacheco Juliana, Li Zhuoning, Monetti Mara, Stanley Robert F, Doulatov Sergei, Bradley Robert K, Abdel-Wahab Omar
Abstract excerpt
Mutations in the RNA splicing factor gene SF3B1 are common across hematologic and solid cancers and result in widespread alterations in splicing, yet there is currently no therapeutic means to correct this mis-splicing. Here, we utilize synthetic introns uniquely responsive to mutant SF3B1 to identify trans factors required for aberrant mutant SF3B1 splicing activity. This revealed the G-patch domain-containing...
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