The Institute of Stem Cell and Regenerative Medicine, School of Medicine, Xiamen University, Xiamen, China.
Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China.
RNA Biol. 2021 Apr;18(4):468-480. doi: 10.1080/15476286.2020.1817265. Epub 2020 Sep 20.
Tissue-specific alternative splicing (AS) is emerging as one of the most exciting types of mechanisms associated with organ development and disease. In the auditory system, many hearing-related genes undergo AS, and errors in this process result in syndromic or non-syndromic hearing loss. However, little is known about the factors and mechanisms directing AS in the inner ear. In the present study, we identified a novel RNA-binding protein, Rbm24, which was critically involved in regulating inner-ear-specific AS. Rbm24 deletion resulted in hearing loss and defects in motor coordination. Global splicing analysis showed Rbm24 was required for correct splicing of a subset of pre-mRNA transcripts with essential roles in stereocilia integrity and survival of hair cells. Furthermore, we identified that Rbm24 directly regulated the splicing of Cdh23, a known disease gene responsible for human Usher syndrome 1D and non-syndromic autosomal recessive deafness DFNB12. In conclusion, our findings demonstrated that Rbm24 was a critical factor in regulating inner-ear-specific splicing and maintaining the hearing and motor coordination function of the inner ear. Our data not only offer mechanistic insights but also provide functional annotation of Rbm24 splicing targets that contribute to hearing loss.
组织特异性可变剪接(AS)是与器官发育和疾病相关的最令人兴奋的机制类型之一。在听觉系统中,许多与听力相关的基因都经历了 AS,而这个过程中的错误会导致综合征或非综合征性听力损失。然而,关于指导内耳中 AS 的因素和机制知之甚少。在本研究中,我们鉴定了一种新型 RNA 结合蛋白 Rbm24,它在内耳特异性 AS 的调控中起着关键作用。Rbm24 缺失导致听力损失和运动协调缺陷。全局剪接分析表明,Rbm24 是一组具有重要作用的前体 mRNA 转录本正确剪接所必需的,这些转录本在静纤毛完整性和毛细胞存活中起作用。此外,我们鉴定出 Rbm24 可直接调节 Cdh23 的剪接,Cdh23 是导致人类 1D 型 Usher 综合征和非综合征性常染色体隐性耳聋 DFNB12 的已知疾病基因。总之,我们的研究结果表明,Rbm24 是调节内耳特异性剪接和维持内耳听力和运动协调功能的关键因素。我们的数据不仅提供了机制上的见解,还提供了 Rbm24 剪接靶标在听力损失中的功能注释。