Ontology highlight
ABSTRACT:
SUBMITTER: Madan V
PROVIDER: S-EPMC4349895 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Madan Vikas V Kanojia Deepika D Li Jia J Okamoto Ryoko R Sato-Otsubo Aiko A Kohlmann Alexander A Sanada Masashi M Grossmann Vera V Sundaresan Janani J Shiraishi Yuichi Y Miyano Satoru S Thol Felicitas F Ganser Arnold A Yang Henry H Haferlach Torsten T Ogawa Seishi S Koeffler H Phillip HP
Nature communications 20150114
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-sequenc ...[more]