Article
DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells.
Leukemia - 1 Nov 2022
Shinriki Satoru, Hirayama Mayumi, Nagamachi Akiko, Yokoyama Akihiko, Kawamura Takeshi, Kanai Akinori, Kawai Hidehiko, Iwakiri Junichi, Liu Rin, Maeshiro Manabu, Tungalag Saruul, Tasaki Masayoshi, Ueda Mitsuharu, Tomizawa Kazuhito, Kataoka Naoyuki, Ideue Takashi, Suzuki Yutaka, Asai Kiyoshi, Tani Tokio, Inaba Toshiya, Matsui Hirotaka
Abstract excerpt
Myeloid malignancies with DDX41 mutations are often associated with bone marrow failure and cytopenia before overt disease manifestation. However, the mechanisms underlying these specific conditions remain elusive. Here, we demonstrate that loss of DDX41 function impairs efficient RNA splicing, resulting in DNA replication stress with excess R-loop formation. Mechanistically, DDX41 binds to the 5' splice site...
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