本文選題：SFB + SRSF�。� 參考：《中國(guó)實(shí)驗(yàn)血液學(xué)雜志》2017年02期

【摘要】：近年來(lái)應(yīng)用高通量測(cè)序技術(shù)較全面地揭示了骨髓增生異常綜合征(MDS)的基因突變譜系,但對(duì)這些基因突變?cè)贛DS發(fā)生、發(fā)展中的作用知之甚少。剪接因子突變是MDS這組異質(zhì)性疾病中最常見(jiàn)的分子學(xué)異常。在最近研究中發(fā)現(xiàn)了SF3B1、SRSF2、U2AF1突變以及端粒酶功能異常導(dǎo)致的剪接因子失調(diào)而影響前體mRNA剪接的具體機(jī)制,揭示了可能的下游靶基因,初步闡釋了剪接異常對(duì)造血功能的影響及其在MDS發(fā)病機(jī)制中的作用,并建立了相應(yīng)的動(dòng)物模型,對(duì)尋找MDS新的治療靶點(diǎn)具有重要意義。本文就剪接異常在骨髓增生異常綜合征發(fā)病機(jī)制中的作用進(jìn)行了綜述。
[Abstract]:In recent years, high-throughput sequencing techniques have been used to reveal the gene mutation lineage of myelodysplastic syndromes (MDS), but little is known about the role of these mutations in the development of MDS. Splicing factor mutation is the most common molecular abnormality in MDS. In recent studies, we have discovered the specific mechanism of SF3B1SSRSF2U2AF1 mutation and splicing factor imbalance caused by abnormal telomerase function, which affects the splicing of precursor mRNA, which reveals the possible downstream target gene. The effects of splicing abnormality on hematopoietic function and its role in the pathogenesis of MDS were preliminarily explained, and the corresponding animal model was established, which is of great significance for finding new therapeutic targets for MDS. This article reviews the role of splicing abnormalities in the pathogenesis of myelodysplastic syndrome.
【作者單位】： 湖南師范大學(xué)醫(yī)學(xué)院;江蘇省中醫(yī)院/南京中醫(yī)藥大學(xué)附屬醫(yī)院血液科;中國(guó)醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)學(xué)院血液學(xué)研究所血液病醫(yī)院實(shí)驗(yàn)血液學(xué)國(guó)家重點(diǎn)實(shí)驗(yàn)室;
【基金】：國(guó)家自然科學(xué)基金(81000201) 江蘇省中醫(yī)院高峰人才項(xiàng)目(y2014rc10) 國(guó)家留學(xué)基金(201308320259)資助
【分類號(hào)】：R551.3

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