The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
Open accessAbstract
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. Somatic mutations in components of the core RNA splicing machinery, including ZRSR2, have been implicated in myelodysplastic syndrome (MDS). Here, Madan et al.show that ZRSR2 plays a pivotal role in splicing of the U12-type introns, while the U2-dependent splicing is largely unaffected in ZRSR2 mutant MDS bone marrow.
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Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
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Metadata
- 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.
- Venue
- Nature Communications
- Published
- 2015-01-14
- Volume
- 6
- Issue
- 1
- Pages
- 6042-6042
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W1977301794
- Cited by
- 240
- References
- 5
- FWCI
- 7.59
- Type
- journal article
- Language
- en
- Open access
- gold
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- 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. (2015). Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nature Communications. https://doi.org/10.1038/ncomms7042
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