Research Progress on Spliceosome Mutations in Hematopoietic Malignancy.
10.7534/j.issn.1009-2137.2016.03.053
- Author:
Chao SUN
1
;
Jing WANG
1
;
Xin ZHOU
2
Author Information
1. Department of Hematology, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi 214023, Jiangsu Province, China.
2. Department of Hematology, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi 214023, Jiangsu Province, China. E-mail: zx89232@126.cn.
- Publication Type:Journal Article
- MeSH:
DNA Methylation;
DNA Repair;
Hematologic Neoplasms;
genetics;
Humans;
Mutation;
Myelodysplastic Syndromes;
Prognosis;
Signal Transduction;
Spliceosomes;
genetics
- From:
Journal of Experimental Hematology
2016;24(3):925-929
- CountryChina
- Language:Chinese
-
Abstract:
As novel somatic mutations, spliceosome mutations have been identified in recent years with the advent of whole exone/genome sequencing technology in hematopoietic malignancy. These new findings provide another view to understand these diseases other than DNA methylation, chromatin modification, transcription regulation, DNA repair and signal transduction. In this review, the structure as well as function of spliceosome are introduced and the common mutations such as SF3B1, U2AF35, SRSF2 and ZRSR2 as well as their frequency, mutation versions, clinical phenotypies and effects on prognosis are discussed.
