核糖体蛋白异常与相关血液疾病

Disorders of Ribosomal Proteins and Related Hematologic Diseases

核糖体蛋白(ribosomal protein,RP)是组成核糖体的重要元件之一,它普遍存在于每一个细胞中并且含量丰富,可以和RNA结合形成核糖体行使蛋白质合成的功能。除了参与蛋白质的生物合成之外,RP还具有独立于核糖体之外的功能,包括参与DNA的修复,调控细胞增殖、凋亡和分化,称之为RP的核糖体外功能(extraribosomal functions)。目前,已经证实部分血液系统的疾病与核糖体蛋白异常有关。由于骨髓造血细胞的快速更新,生长,分化过程中需要大量核糖体蛋白参与蛋白质的生物合成及细胞生长的调控,因而血液系统更容易受到核糖体蛋白表达异常的影响。本文就核糖体蛋白异常与相关血液疾病问题作一综述。

Ribosomal proteins are key elements of protein synthesis machinery,ribosome.Besides the essential role in ribosome assembly and protein synthesis,there are lots of extraribosomal functions for ribosomal proteins,ranging from regulating cell proliferation and apoptosis to mediating DNA repair,cellular development and differentiation.Based on the typical features of hematologic system,the ribosomal proteins are related with many hematologic diseases,such as Diamond- Blackfan anemia,5q- syndrome.In this review,the recent research progress on extraribosomal functions and related hematologic diseases are summarised.