HGNC Approved Gene Symbol: RPL27
Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38) : 17:42,998,273-43,002,959 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 17q21.31 | ?Diamond-Blackfan anemia 16 | 617408 | Autosomal dominant | 3 |
By differential screening of fetal and adult kidney mRNA, Gallagher et al. (1994) cloned RPL27 as one of several transcripts showing high expression during fetal development. The deduced 135-amino acid protein has a calculated molecular mass of about 18 kD. RPL27 shares 100% amino acid identity with rat and chicken Rpl27, although there are several silent base pair changes at the DNA level. Northern blot analysis revealed expression of a 1.0-kb transcript or 2 transcripts of 1.0 and 1.25 kb in fetal kidney. The 1.0-kb transcript was present at lower levels in adult kidney. RPL27 expression was also detected in several other fetal tissues, including muscle, liver, lung, heart, and brain. The 1.0-kb transcript was present in adult muscle at lower levels than in fetal muscle. Gallagher et al. (1994) determined that RPL27 was downregulated 20-fold in adult kidney compared with fetal kidney.
By Southern blot analysis, Gallagher et al. (1994) determined that there are multiple RPL27 copies in the genome. The International Radiation Hybrid Mapping Consortium mapped the RPL27 gene to chromosome 17 (RH26918).
Using RT-PCR, Sim et al. (2010) found that a subset of genes encoding proteins of the large ribosomal subunit was differentially expressed in nasopharyngeal carcinoma (see 607107) cell lines compared with a normal nasopharyngeal epithelial cell line. RPL27 was 1 of 3 genes significantly downregulated in the carcinoma cell lines.
In cells from the K562 human erythroid cell line, Wang et al. (2015) knocked down RPL27 by siRNA and analyzed pre-rRNA processing by Northern blotting. Reduction of RPL27 caused accumulation of 32S rRNA, suggesting that RPL27 is important for the maturation of 28S and 5.8S rRNAs.
In a 2-year-old girl with Diamond-Blackfan anemia-16 (DBA16; 617408), Wang et al. (2015) identified heterozygosity for a de novo splice site mutation in the RPL27 gene (607526.0001).
After morpholino knockdown of the zebrafish RPL27 ortholog (rpl27), Wang et al. (2015) observed abnormal morphant phenotypes such as a thin yolk sac extension and bent tail at 25 hours postfertilization (hpf). Hemoglobin staining at 48 hpf revealed a marked reduction of erythrocyte production in the cardial vein of the morphants. All abnormalities were rescued by simultaneous injection of rpl27 mRNA into the embryos.
In a 2-year-old girl (patient 95) with Diamond-Blackfan anemia-16 (DBA16; 617408), Wang et al. (2015) identified heterozygosity for a de novo splice site mutation (c.-2-1G-A) in the first exon of the RPL27 gene. RT-PCR analysis of total RNA from patient leukocytes showed 2 transcripts: 1 full-length transcript, and 1 shorter transcript lacking exon 2 due to alternative splicing. The aberrant transcript was calculated to account for about 40% of total RPL27 transcripts.
Gallagher, R. A., McClean, P. M., Malik, A. N. Cloning and nucleotide sequence of a full length cDNA encoding ribosomal protein L27 from human fetal kidney. Biochim. Biophys. Acta 1217: 329-332, 1994. [PubMed: 8148381] [Full Text: https://doi.org/10.1016/0167-4781(94)90295-x]
Sim, E. U. H., Ang, C. H., Ng, C. C., Lee, C. W., Narayanan, K. Differential expression of a subset of ribosomal protein genes in cell lines derived from human nasopharyngeal epithelium. J. Hum. Genet. 55: 118-120, 2010. [PubMed: 19927161] [Full Text: https://doi.org/10.1038/jhg.2009.124]
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]