Brown Madeleine, Earl Brittnei, Filla Michael, Kibiryeva Nataliya, O'Brien James E, Bittel Douglas C
College of Biosciences, Kansas City University, Kansas City, MO 64106, USA.
Ward Family Heart Center, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Genes (Basel). 2025 Jul 24;16(8):864. doi: 10.3390/genes16080864.
Our previous research identified 12 small Cajal body-specific RNAs (scaRNAs) with reduced expression in the right ventricle in infant patients with tetralogy of Fallot. Likewise, we showed that there were significant changes in mRNA processing in the RV in these patients. ScaRNAs play a crucial role in the biochemical maturation of spliceosomal RNAs (pseudouridylation and 2'-O-methylation). We showed that variations in scaRNA1 levels resulted in changes in alternative splicing in human cells. To investigate further the role that scaRNAs play in mRNA processing, we examine here the impact of knocking down scaRNA1 in quail myoblast cells (, a well-established animal model for studying embryonic development). Following the knockdown of scaRNA1, transcriptome analysis revealed that the genes , , and were alternatively spliced. Growing evidence indicates that alternative splicing of mRNA plays an important role in regulating cell differentiation and tissue development. Our data presented here provide additional support for research to clarify the specific roles that individual scaRNAs play in regulating spliceosome function and mRNA splicing.
我们之前的研究在法洛四联症婴儿患者的右心室中鉴定出12种小 Cajal 体特异性RNA（scaRNAs），其表达降低。同样，我们发现这些患者右心室中的mRNA加工存在显著变化。ScaRNAs在剪接体RNA的生化成熟（假尿苷化和2'-O-甲基化）中起关键作用。我们表明scaRNA1水平的变化导致人类细胞中可变剪接的改变。为了进一步研究scaRNAs在mRNA加工中的作用，我们在此研究了在鹌鹑成肌细胞（一种用于研究胚胎发育的成熟动物模型）中敲低scaRNA1的影响。在敲低scaRNA1后，转录组分析显示基因、和发生了可变剪接。越来越多的证据表明，mRNA的可变剪接在调节细胞分化和组织发育中起重要作用。我们在此提供的数据为阐明单个scaRNAs在调节剪接体功能和mRNA剪接中所起的特定作用的研究提供了额外支持。
