The Role of Alternative mRNA Splicing in Heart Development
The Role of Alternative mRNA Splicing in Heart Development
复制标题
选择性 mRNA 剪接在心脏发育中的作用
DOI：
10.1007/978-981-15-1185-1_53
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
James E. O’BrienJr
中科院分区：
文献类型：
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作者：
Douglas C. Bittel;Email authorNataliya Kibiryeva;Naoya Kenmochi;Prakash Patil;Tamayo Uechi;Brenda Rongish;Mike Filla;Jennifer Marshall;Michael Artman;Rajasingh Johnson;James E. O’BrienJr
过去10年的研究已经提高了对脊椎动物心脏发育的遗传调控的理解，但尽管如此，大约70%的先天性心脏病（CHD）仍然有未知的病因。mRNA的选择性剪接已被证明在正常和异常发育中发挥作用。mRNA的剪接失调已被证明会导致小鼠的心脏缺陷，然而mRNA剪接和CHD之间的联系尚未在人类中显示。我们报道了超过50%的与心脏发育相关的基因在法洛四联症（TOF）婴儿的右心室（RV）相对于正常发育婴儿的RV是选择性剪接的。此外，12种scaRNA的水平显著降低，
Research in the last 10 years has led to improved understanding of the genetic regulation of vertebrate heart development, but despite this effort, approximately 70% of all congenital heart defects (CHDs) still have an unknown etiology. Alternative splicing of mRNA has been documented to play roles in normal and abnormal development. Dysregulated splicing of mRNA has been shown to cause heart defects in mice, however a link between mRNA splicing and CHDs has not yet been shown in humans. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of infants with tetralogy of Fallot (TOF) relative to the RV of normally developing infants. Moreover, there was a significant decrease in the level of 12 scaRNAs