人类RNA结合蛋白的进化保守性、表达及其在人类遗传疾病中的作用。
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.
作者信息
Gerstberger Stefanie, Hafner Markus, Ascano Manuel, Tuschl Thomas
机构信息
Howard Hughes Medical Institute and Laboratory for RNA Molecular Biology, The Rockefeller University, 1230 York Ave, 10065, New York, NY, USA.
出版信息
Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1.
Abstract
RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often binding thousands of targets at many sites. The importance of RBPs is underscored by their dysregulation or mutations causing a variety of developmental and neurological diseases. This chapter globally discusses human RBPs and provides a brief introduction to their identification and RNA targets. We review RBPs based on common structural RNA-binding domains, study their evolutionary conservation and expression, and summarize disease associations of different RBP classes.
摘要
RNA结合蛋白（RBPs）是转录后基因调控（PTGR）的效应器和调节因子。RBPs调节所有RNA的稳定性、成熟和周转，通常在许多位点结合数千个靶标。RBPs的失调或突变会导致多种发育和神经疾病，这凸显了它们的重要性。本章全面讨论了人类RBPs，并简要介绍了它们的鉴定方法和RNA靶标。我们根据常见的结构RNA结合结构域对RBPs进行综述，研究它们的进化保守性和表达情况，并总结不同RBP类别的疾病关联。
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