State Key Laboratory of Molecular Biology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China.
University of Chinese Academy of Sciences, Beijing 100049, China.
Nucleic Acids Res. 2021 Apr 19;49(7):3796-3813. doi: 10.1093/nar/gkab155.
The family of Poly(A)-binding proteins (PABPs) regulates the stability and translation of messenger RNAs (mRNAs). Here we reported that the three members of PABPs, including PABPC1, PABPC3 and PABPC4, were identified as novel substrates for MKRN3, whose deletion or loss-of-function mutations were genetically associated with human central precocious puberty (CPP). MKRN3-mediated ubiquitination was found to attenuate the binding of PABPs to the poly(A) tails of mRNA, which led to shortened poly(A) tail-length of GNRH1 mRNA and compromised the formation of translation initiation complex (TIC). Recently, we have shown that MKRN3 epigenetically regulates the transcription of GNRH1 through conjugating poly-Ub chains onto methyl-DNA bind protein 3 (MBD3). Therefore, MKRN3-mediated ubiquitin signalling could control both transcriptional and post-transcriptional switches of mammalian puberty initiation. While identifying MKRN3 as a novel tissue-specific translational regulator, our work also provided new mechanistic insights into the etiology of MKRN3 dysfunction-associated human CPP.
多聚(A)结合蛋白家族(PABPs)调节信使 RNA(mRNA)的稳定性和翻译。在这里,我们报道了 PABPs 的三个成员,包括 PABPC1、PABPC3 和 PABPC4,被鉴定为 MKRN3 的新型底物,其缺失或功能丧失突变与人类中枢性性早熟(CPP)在遗传上有关。MKRN3 介导的泛素化被发现减弱了 PABPs 与 mRNA 多聚(A)尾的结合,导致 GNRH1 mRNA 的多聚(A)尾长度缩短,并损害翻译起始复合物(TIC)的形成。最近,我们已经表明,MKRN3 通过将多聚-Ub 链连接到甲基-DNA 结合蛋白 3(MBD3)上来表观遗传调控 GNRH1 的转录。因此,MKRN3 介导的泛素信号可以控制哺乳动物青春期启动的转录和转录后开关。在将 MKRN3 鉴定为新型组织特异性翻译调节剂的同时,我们的工作还为 MKRN3 功能障碍相关人类 CPP 的病因提供了新的机制见解。