作者
Renae Elaine Bertrand, Jun Wang, Yumei Li, Xuesen Cheng, Keqing Wang, Peter Stoilov, Rui Chen
发表日期
2022/4/15
期刊
Human molecular genetics
卷号
31
期号
8
页码范围
1278-1292
出版商
Oxford University Press
简介
Previous in vitro studies indicate that CWC27 functions as a splicing factor in the Bact spliceosome complex, interacting with CWC22 to form a landing platform for eIF4A3, a core component of the exon junction complex. However, the function of CWC27 as a splicing factor has not been validated in any in vivo systems. CWC27 variants have been shown to cause autosomal recessive retinal degeneration, in both syndromic and non-syndromic forms. The Cwc27K338fs/K338fs mouse model was shown to have significant retinal dysfunction and degeneration by 6 months of age. In this report, we have taken advantage of the Cwc27K338fs/K338fs mouse model to show that Cwc27 is involved in splicing in vivo in the context of the retina. Bulk RNA and single cell RNA-sequencing of the mouse retina showed that there were gene expression and splicing pattern changes, including alternative splice site usage and …
引用总数
20212022202320241352
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RE Bertrand, J Wang, Y Li, X Cheng, K Wang, P Stoilov… - Human Molecular Genetics, 2022