Cho Vicky, Mei Yan, Sanny Arleen, Chan Stephanie, Enders Anselm, Bertram Edward M, Tan Andy, Goodnow Christopher C, Andrews T Daniel
Genome Biol. 2014 Jan 29;15(1):R26. doi: 10.1186/gb-2014-15-1-r26.
Retention of a subset of introns in spliced polyadenylated mRNA is emerging as a frequent, unexplained finding from RNA deep sequencing in mammalian cells.
Here we analyze intron retention in T lymphocytes by deep sequencing polyadenylated RNA. We show a developmentally regulated RNA-binding protein, hnRNPLL, induces retention of specific introns by sequencing RNA from T cells with an inactivating Hnrpll mutation and from B lymphocytes that physiologically downregulate Hnrpll during their differentiation. In Ptprc mRNA encoding the tyrosine phosphatase CD45, hnRNPLL induces selective retention of introns flanking exons 4 to 6; these correspond to the cassette exons containing hnRNPLL binding sites that are skipped in cells with normal, but not mutant or low, hnRNPLL. We identify similar patterns of hnRNPLL-induced differential intron retention flanking alternative exons in 14 other genes, representing novel elements of the hnRNPLL-induced splicing program in T cells. Retroviral expression of a normally spliced cDNA for one of these targets, Senp2, partially corrects the survival defect of Hnrpll-mutant T cells. We find that integrating a number of computational methods to detect genes with differentially retained introns provides a strategy to enrich for alternatively spliced exons in mammalian RNA-seq data, when complemented by RNA-seq analysis of purified cells with experimentally perturbed RNA-binding proteins.
Our findings demonstrate that intron retention in mRNA is induced by specific RNA-binding proteins and suggest a biological significance for this process in marking exons that are poised for alternative splicing.
在剪接的多聚腺苷酸化mRNA中保留一部分内含子,正逐渐成为哺乳动物细胞RNA深度测序中一个常见且无法解释的发现。
在此,我们通过对多聚腺苷酸化RNA进行深度测序来分析T淋巴细胞中的内含子保留情况。我们发现一种受发育调控的RNA结合蛋白hnRNPLL,通过对具有失活Hnrpll突变的T细胞以及在分化过程中生理性下调Hnrpll的B淋巴细胞的RNA进行测序,诱导特定内含子的保留。在编码酪氨酸磷酸酶CD45的Ptprc mRNA中,hnRNPLL诱导外显子4至6两侧内含子的选择性保留;这些内含子对应于含有hnRNPLL结合位点的可变外显子,在具有正常hnRNPLL但非突变或低水平hnRNPLL的细胞中这些外显子会被跳过。我们在其他14个基因中鉴定出hnRNPLL诱导的可变外显子两侧差异内含子保留的类似模式,这代表了T细胞中hnRNPLL诱导的剪接程序的新元件。其中一个靶标Senp2的正常剪接cDNA的逆转录病毒表达部分纠正了Hnrpll突变T细胞的存活缺陷。我们发现整合多种计算方法来检测内含子保留存在差异的基因,当与对RNA结合蛋白受到实验干扰的纯化细胞进行RNA测序分析互补时,提供了一种在哺乳动物RNA测序数据中富集可变剪接外显子的策略。
我们的发现表明mRNA中的内含子保留是由特定RNA结合蛋白诱导的,并暗示了这一过程在标记准备进行可变剪接的外显子方面的生物学意义。