Mechanism of R-loop in myelodysplastic syndromes and the treatment progress
10.3760/cma.j.cn115356-20210609-00142
- VernacularTitle:R-loop在骨髓增生异常综合征发病机制及治疗中的研究进展
- Author:
Nanfang HUANG
1
;
Feng XU
Author Information
1. 上海交通大学医学院附属第六人民医院血液内科，上海 200233
- Keywords:
Myelodysplastic syndromes;
Splicing factors;
R-loop;
ATR-Chk1;
Targeted therapy
- From:
Journal of Leukemia & Lymphoma
2022;31(11):701-704
- CountryChina
- Language:Chinese
-
Abstract:
Almost 50% myelodysplastic syndromes (MDS) patients have different splicing factor mutations, including SF3B1, SRSF2, U2AF1. Different splicing factor mutations cause the various mechanisms of slicing abnormality and eventually lead to the similar MDS phenotypes, indicating that splicing factor mutations might generate the common pathopoiesia pathway different from slicing abnormality. Recent studies have shown that SF3B1, U2AF1 and SRSF2 mutations could contribute to the accumulation of R-loop, cause DNA damage and repair abnormality, activate ATR-Chk1 pathway and finally promote apoptosis and tumorigenesis. This paper reviews the role of R-loop in the pathogenesis of MDS and the progress of related targeted drugs.
