Citation
- Authors: Madan, V., Kanojia, D., Li, J., Okamoto, R., Sato-Otsubo, A., Kohlmann, A., Sanada, M., Grossmann, V., Sundaresan, J., Shiraishi, Y., Miyano, S., Thol, F., Ganser, A., Yang, H., Haferlach, T., Ogawa, S., Koeffler, H. P.
- Year: 2015
- Journal: Nat Commun 6 6042
- Applications: in vitro / DNA / jetPRIME
- Cell type: HEK-293T
Description: Human embryonic kidney Fibroblast
Known as: HEK293T, 293T
Abstract
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. Here we characterize ZRSR2 as an essential component of the minor spliceosome (U12 dependent) assembly. shRNA-mediated knockdown of ZRSR2 leads to impaired splicing of the U12-type introns and RNA-sequencing of MDS bone marrow reveals that loss of ZRSR2 activity causes increased mis-splicing. These splicing defects involve retention of the U12-type introns, while splicing of the U2-type introns remain mostly unaffected. ZRSR2-deficient cells also exhibit reduced proliferation potential and distinct alterations in myeloid and erythroid differentiation in vitro. These data identify a specific role for ZRSR2 in RNA splicing and highlight dysregulated splicing of U12-type introns as a characteristic feature of ZRSR2 mutations in MDS.