Immunotherapy: Open Access
Open Access

Joint Shantou International Eye Center, Shantou University and The Chinese University of Hong Kong, Shantou, China

Publications

• Research Article   
  R354X mutation in PRPF31 affects its capacity in inflammation response and splicing
  Author(s): Xiaoqiang Xiao* Fang Deng, Shaofen Huang
  
  Pre-mRNA Processing Factor 31(PRPF31) is a key component of RNA splicing and a disease-causing gene of Retinitis Pigmentosa (RP). Previously, we found that the nonsense mutation R354X in PRPF31 induces RP in a Chinese RP family. In order to investigate the underlining molecular mechanisms of RP pathogenesis induced by this mutation, we generated cell lines stably expressing R354X mutant, Wild Type (WT) of PRPF31 and corresponding empty vector using HEK293T cells ,the resulting cell lines were used for Long non-coding RNA sequencing (LncRNA-sequencing). The results of LncRNA sequencing showed that, comparing to WT, R354X mutation changed the expression and splicing of coding and non-coding transcripts. Interestingly, in HEK293T and APRE-19 cells, inflammationassociated genes such as IFI6, OAS3and STAT3, enhanced their expression in response to the overexpression of WT PRPF31; however, .. View More»
  DOI: 10.35248/2471-9552.22.08.190

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