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Ribosomal Proteins Mutations

Evidence for the pivotal role of ribosomal proteins (RPs) in various diseases is mounting, thus, RPs are emerging as a hot spot in the field of ribosome research. Creative Biolabs will provide you with comprehensive ribosomal services, including but not limited to ribosomal transcriptome and ribosomal proteomics.

Ribosomes and RPs

Ribosomes are intracellular machines necessary for protein biosynthesis in all cells. RPs, together with rRNA, are the main components of ribosomes involved in cellular translation processes. In addition to being components of the ribosome, RPs are closely related to ribosome biogenesis. There is increasing evidence suggesting the extra-ribosome functions of RPs. RPs have been proven to be implicated in the regulation of various fundamental life processes involved in the cell cycle, such as apoptosis, cell proliferation, and tumorigenesis. Currently, there is increasing information on the functional relationship between RPs and diseases.

RP Mutations in Diseases

Given the crucial functions of ribosomes and RPs in cells, disorders of RPs can lead to many diseases. It was reported that plenty of birth defects and anemia were closely associated with mutations of RPs. Substantial evidence indicated that Diamond-Blackfan anemia (DBA) is caused by mutations in ribosomal genes, including RPL5, RPS11, RPL19, RPS24, and RPS29. In addition, the expression level of RPs in cancer is closely related to the occurrence and development of many cancers. Based on the close relationship between RPs and cancer, RPs may be attractive targets for cancer therapy.

Fig. 1 Example of RP complex mutations regulate and response to cellular stress. (Goudarzi, K. M. & LINDSTRöM, M. S., 2015)Fig. 1 The 5S RNP complex regulates MDM2-p53 in response to cellular stress.¹

Examples of RPs Mutations

Research revealed that RP gene mutations are relatively frequent in some cancer types. For instance, RPS15 mutations have been reported in chronic lymphocytic leukemia (CLL). Additionally, mutations in the RP gene, including RPL5, RPL10, RPL11, and RPL22, have been found in children with T-cell acute lymphoblastic leukemia (T-ALL). Notably, RPL22 is also mutated in other cancers, including colorectal, breast, gastric, and lung cancers. Moreover, mutations in RPL5 have been detected in glioblastoma and RPL39 mutations have been discovered in breast cancer. In short, RPs provide a new platform for the development of cancer therapy. Although the mechanism by which RPs mutations increase cancer risk remains an important unanswered question, several hypotheses have been proposed. Additional sequencing projects and functional studies will provide a more complete understanding of the mechanism associated RPs in cancer.

Recently, several studies applying RNA sequencing and ribosomal proteomic techniques have facilitated the discovery of RPs mutations in malignant tumors. This may open up new avenues for RPs mutations and cancer therapy. If you need professional and high-quality ribosomal protein analysis services, Creative Biolabs will be your best choice. Please contact us for more information.


  1. Goudarzi, Kaveh M., and MIKAEL S. LINDSTRöM. "Role of ribosomal protein mutations in tumor development." International journal of oncology 48.4 (2016): 1313-1324.
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