Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Albert Einstein College of Medicine, Bronx, NY, USA.
Adv Exp Med Biol. 2020;1227:69-79. doi: 10.1007/978-3-030-36422-9_5.
Gene expression is regulated at multiple steps after generation of primary RNA transcripts, including mRNA processing, stability, and transport, along with co- and post-transcriptional regulation. These processes are controlled via the involvement of a multitude of RNA binding proteins (RBPs). Innumerable human diseases have been associated with altered expression of RNA binding proteins. In this chapter we have focused on Maheshvara (mahe) which encodes a putative DEAD box RNA helicase protein in Drosophila. We have recently reported that mahe plays an important role in regulation of Notch signaling. Fine tuning of Notch signaling is required at multiple steps and it's misregulation leads to a variety of human diseases. Additionally, mutation in DDX59, a human homolog of mahe results in broad neurological phenotypes associated with orofaciodigital syndrome. Drosophila mahe mutants show abnormal peripheral and central nervous system development that resemble neuropathology of patients having mutation in DDX59 gene. This chapter will help in advancing the knowledge as to how mahe regulates Notch signaling and nervous system development.
基因表达在初级 RNA 转录本生成后多个步骤受到调控,包括 mRNA 加工、稳定性和运输,以及共转录和转录后调控。这些过程通过多种 RNA 结合蛋白 (RBP) 的参与来控制。无数人类疾病与 RNA 结合蛋白表达的改变有关。在本章中,我们集中讨论了 Maheshvara(mahe),它在果蝇中编码一个假定的 DEAD 盒 RNA 解旋酶蛋白。我们最近报道,mahe 在 Notch 信号转导的调控中发挥重要作用。 Notch 信号转导的精细调控需要在多个步骤进行,其失调会导致多种人类疾病。此外,与 Mahe 人类同源物 DDX59 的突变导致与口面指综合征相关的广泛神经表型。果蝇 mahe 突变体表现出异常的外周和中枢神经系统发育,类似于 DDX59 基因突变患者的神经病理学。本章将有助于提高对 mahe 如何调节 Notch 信号转导和神经系统发育的认识。