Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

We identified CTR9 mutants as rare heritible contributing factors to several blood cancers. We later identified partial loss of CTR9 is capable of driving key hematopoietic maintenance and self-renewal gene expression through altered transcription elongation. Overall design: CD34+ HSPCs edited by AAVS1, CTR9 guide RNAs were subject to single cell RNA-seq analysis

我们鉴定出CTR9突变体是数种血液癌症的罕见遗传性致病相关因素。后续研究发现，CTR9的部分功能丧失可通过改变转录延伸过程，调控关键造血维持与自我更新相关基因的表达。实验整体设计：经AAVS1与CTR9向导RNA编辑的CD34阳性造血干细胞及祖细胞（hematopoietic stem and progenitor cells, HSPCs）被用于单细胞RNA测序（single-cell RNA-seq）分析。