Article
Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.
Nature communications - 14 Jan 2015
Madan Vikas, Kanojia Deepika, Li Jia, Okamoto Ryoko, Sato-Otsubo Aiko, Kohlmann Alexander, Sanada Masashi, Grossmann Vera, Sundaresan Janani, Shiraishi Yuichi, Miyano Satoru, Thol Felicitas, Ganser Arnold, Yang Henry, Haferlach Torsten, Ogawa Seishi, Koeffler H Phillip
Abstract excerpt
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...
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