Human PRPF40B knock-out in K562 CML cell line. Homo sapiens

We characterized the transcriptomic regulation of PRPF40B, which is a splicing factor mutated in a small fraction of MyeloDysplastic Syndromes (MDS) patients. We generated a full PRPF40B knockout in K562 cell line by CRISPR/Cas9 technology, and rescued its levels by transient overexpression of wild-type, P383L or P540S MDS alleles.

本研究对PRPF40B的转录组调控特征开展了系统表征。PRPF40B作为一种剪接因子，在小部分骨髓增生异常综合征（MyeloDysplastic Syndromes, MDS）患者中可发生突变。我们通过CRISPR/Cas9技术在K562细胞系中构建了PRPF40B全基因敲除模型，并通过瞬时过表达野生型、P383L或P540S这三种与MDS相关的等位基因，恢复了PRPF40B的表达水平。