核糖体蛋白基因与人类疾病的相关研究  

Research of ribosomal protein and human disease

作　　者：颜金艳[1] 白静[1] 孙文靖[1] 金焰[1,2] 傅松滨[1] 

机构地区：[1]哈尔滨医科大学医学遗传学研究室,150081 [2]黑龙江省普通高等学校医学遗传学重点实验室,哈尔滨150081

出　　处：《国际遗传学杂志》2012年第2期100-105,共6页International Journal of Genetics

基　　金：教育部新世纪优秀人才项目（NCET-08-0671,NCET-10-0149）;国家自然科学基金（30800268）;973前期专项（2010CB534901）

摘　　要：核糖体是细胞内合成蛋白质的重要细胞器，由核糖体RNA和核糖体蛋白质组成。核糖体蛋白除了参与蛋白质的生物合成还表现出一些其他生理功能，如参与DNA复制、转录和损伤修复，调控细胞生长、增殖、凋亡和发育以及细胞转化等。最近研究发现，某些核糖体蛋白的表达不足或缺失以及核糖体蛋白基因发生突变与某些先天性遗传性疾病的发生有关。在许多恶性肿瘤细胞中也存在某些核糖体蛋白基因异常表达。此文对核糖体蛋白基因与人类疾病发生（某些先天性遗传性疾病和肿瘤）之间的关系进行了详细阐述。Ribosome, the essential cellular organelle for protein synthesis in all cells, consists of ribosomal RNAs and ribosomal proteins. Besides the ribosomal proteins participate in the protein synthesis, many RPs also fill various roles that are independent of protein biosynthesis, including DNA replication, transcription of apoptosis and development, and cellular transformation. Recently, many studies show that the insufficiency or deletion of specific ribosomal proteins and the mutation of the ribosomal protein genes are associated with the congenital genetic diseases. The phenomenon is also appeared that the ribosomal protein genes are expressioned abnormally in a great multitude of malignancy. This review attempt to clarify the possible relationships between the ribosomal genes and human diseases, such as certain congenital genetic diseases and malignancy.

关 键 词：核糖体蛋白基因 先天性遗传性疾病 肿瘤 

分 类 号：R641[医药卫生—外科学]