Alternative titles; symbols
HGNC Approved Gene Symbol: RPS27
Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38) : 1:153,990,762-153,992,155 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1q21.3 | ?Diamond-Blackfan anemia 17 | 617409 | Autosomal dominant | 3 |
The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins. Using differential hybridization to screen a cDNA library derived from a human mammary carcinoma cell line that was stimulated with TGFB1 (190180) in the presence of cyclohexamide, Fernandez-Pol et al. (1993) isolated a cDNA whose corresponding mRNA was induced by TGFB1. The deduced protein, which the authors named metallopanstimulin-1 (MPS1), has 84 amino acids and an unmodified molecular mass of 9.5 kD. The MPS1 protein contains a predicted zinc finger domain of the C4 type. Immunofluorescence demonstrated that MPS1 is located predominantly in the nucleus. Northern blot analysis detected an approximately 0.4-kb MPS1 transcript which was induced by a variety of growth factors. MPS1 mRNA levels were increased in cultured malignant cells and in cancerous tissue specimens compared to cultured normal cells and normal tissue specimens, respectively.
Tsui et al. (1996) cloned a human heart cDNA encoding ribosomal protein S27 (RPS27). The deduced human RPS27 protein is 96% identical to the rat Rps27 protein. The RPS27 and MPS1 cDNAs differ by 1 bp; whereas MPS1 contains the putative polyadenylation signal AACAAA, RPS27 contains AATAAA.
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the RPS27 gene to chromosome 1.
Fernandez-Pol et al. (1994) showed that recombinant MPS1 expressed in the Sf9 insect cell line was phosphorylated and can bind to DNA.
In cells from the K562 human erythroid cell line, Wang et al. (2015) knocked down RPS27 by siRNA and analyzed pre-rRNA processing by Northern blot analysis. Reduction of RPS27 resulted in accumulation of 30S rRNA and a decrease in 21S rRNA and 18S-E rRNA, suggesting that RPS27 is essential for 18S rRNA processing.
In a 4-year-old girl with Diamond-Blackfan anemia-17 (DBA17; 617409), Wang et al. (2015) identified heterozygosity for a de novo 1-bp deletion in the RPS27 gene (603702.0001).
After morpholino knockdown of the zebrafish gene rps27.1, which shares 96% amino acid identity with human RPS27, Wang et al. (2015) observed abnormal morphant phenotypes such as a thin yolk sac extension, bent tail, and malformed brain region at 26 hours postfertilization (hpf). Reduced erythrocyte production was also observed in approximately 60% of the morphants.
In a 4-year-old girl (patient 42) with Diamond-Blackfan anemia-17 (DBA17; 617409), Wang et al. (2015) identified heterozygosity for a de novo 1-bp deletion (c.90delC) in the RPS27 gene, causing a frameshift predicted to result in a premature termination codon (Tyr31ThrfsTer5).
Fernandez-Pol, J. A., Klos, D. J., Hamilton, P. D. A growth factor-inducible gene encodes a novel nuclear protein with zinc finger structure. J. Biol. Chem. 268: 21198-21204, 1993. [PubMed: 8407955]
Fernandez-Pol, J. A., Klos, D. J., Hamilton, P. D. Metallopanstimulin gene product produced in a baculovirus expression system is a nuclear phosphoprotein that binds to DNA. Cell Growth Diff. 5: 811-825, 1994. [PubMed: 7986747]
Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. A map of 75 human ribosomal protein genes. Genome Res. 8: 509-523, 1998. [PubMed: 9582194] [Full Text: https://doi.org/10.1101/gr.8.5.509]
Tsui, S. K. W., Lee, S. M. Y., Fung, K. P., Waye, M. M. Y., Lee, C. Y. Primary structures and sequence analysis of human ribosomal proteins L39 and S27. Biochem. Molec. Biol. Int. 40: 611-616, 1996. [PubMed: 8908372] [Full Text: https://doi.org/10.1080/15216549600201203]
Wang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato-Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., Shiraishi, Y., Chiba, K., and 21 others. Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia. Brit. J. Haemat. 168: 854-864, 2015. [PubMed: 25424902] [Full Text: https://doi.org/10.1111/bjh.13229]