Dasgupta Twishasri, Coram Ryan J, Stillwagon Samantha J, Ladd Andrea N
Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.
PLoS One. 2015 Apr 20;10(4):e0124462. doi: 10.1371/journal.pone.0124462. eCollection 2015.
CUG-BP, Elav-like family (CELF) proteins regulate cell type- and developmental stage-specific alternative splicing in the heart. Repression of CELF-mediated splicing activity via expression of a nuclear dominant negative CELF protein in heart muscle was previously shown to induce dysregulation of alternative splicing, cardiac dysfunction, cardiac hypertrophy, and dilated cardiomyopathy in MHC-CELFΔ transgenic mice. A "mild" line of MHC-CELFΔ mice that expresses a lower level of the dominant negative protein exhibits cardiac dysfunction and myopathy at a young age, but spontaneously recovers normal cardiac function and heart size with age despite the persistence of splicing defects. To the best of our knowledge, this was the first example of a genetically induced cardiomyopathy that spontaneously recovers without intervention. In this study, we explored the basis for this recovery. We examined whether a transcriptional program regulated by serum response factor (SRF) that is dysregulated in juvenile MHC-CELFΔ mice is restored in the mild line with age, and evaluated global changes in gene expression by microarray analyses. We found that differences in gene expression between the mild line and wild type hearts are greatly reduced in older animals, including a partial recovery of SRF target gene expression. We did not find evidence of a new compensatory pathway being activated in the mild line with age, and propose that recovery may occur due to developmental stage-specific compatibility of CELF-dependent splice variants with the cellular environment of the cardiomyocyte.
CUG-BP、Elav样家族(CELF)蛋白在心脏中调节细胞类型和发育阶段特异性的可变剪接。先前的研究表明,通过在心肌中表达核显性负性CELF蛋白来抑制CELF介导的剪接活性,会在MHC-CELFΔ转基因小鼠中诱导可变剪接失调、心脏功能障碍、心脏肥大和扩张型心肌病。表达较低水平显性负性蛋白的“轻度”MHC-CELFΔ小鼠品系在年轻时表现出心脏功能障碍和肌病,但尽管存在剪接缺陷,随着年龄增长仍能自发恢复正常心脏功能和心脏大小。据我们所知,这是首例未经干预即可自发恢复的基因诱导型心肌病。在本研究中,我们探究了这种恢复的基础。我们研究了在幼年MHC-CELFΔ小鼠中失调的由血清反应因子(SRF)调控 的转录程序在轻度品系中是否随年龄增长而恢复,并通过微阵列分析评估了基因表达的整体变化。我们发现,在老年动物中,轻度品系与野生型心脏之间的基因表达差异大幅减少,包括SRF靶基因表达的部分恢复。我们没有发现随着年龄增长轻度品系中有新的补偿途径被激活的证据,并提出恢复可能是由于CELF依赖性剪接变体与心肌细胞的细胞环境在发育阶段具有特异性相容性。