HGNC Approved Gene Symbol: RPL26
Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38) : 17:8,377,516-8,383,193 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 17p13.1 | ?Diamond-Blackfan anemia 11 | 614900 | Autosomal dominant | 3 |
The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins.
Zaman (1993) isolated a human lung cancer cell line cDNA encoding ribosomal protein L26 (RPL26). The deduced 145-amino acid human RPL26 protein differs from the rat Rpl26 protein by 2 amino acids.
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the RPL26 gene to chromosome 17p.
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda et al. (2012) identified heterozygosity for a de novo 2-bp deletion in the RPL26 gene (603704.0001). Functional analysis indicated that the mutation causes a ribosome biogenesis defect affecting maturation of both the small and large subunits.
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda et al. (2012) identified heterozygosity for a de novo 2-bp deletion (120delGA) in exon 2 of the RPL26 gene, predicted to cause a frameshift resulting in a truncated 51-amino acid protein that was unlikely to associate with nascent ribosomal subunits. The deletion was not found in her unaffected parents. Depletion of RPL26 with siRNAs in HeLa cells resulted in diminished accumulation of 12S pre-rRNA, and the pattern of precursors to the 18S rRNA was also significantly altered, with lower proportions of 30S and 21S pre-rRNAs and a high level of 41S pre-rRNA. ITS1 and ITS2 hybridization probes both showed an increase in 36S pre-rRNA as well as another precursor migrating just below 36S, consistent with a defect in ITS1 cleavage at site 2. Gazda et al. (2012) noted that this doublet was also found in the patient, and that the 41S/21S pre-rRNA ratio was also much higher in the patient, similar to the pattern observed in RPL26-depleted cells. The authors concluded that this unique phenotype, not observed in other patients or controls, indicated that RPL26 function in ribosome biogenesis was affected.
Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H. Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33: 1037-1044, 2012. [PubMed: 22431104] [Full Text: https://doi.org/10.1002/humu.22081]
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]
Zaman, G. J. R. Sequence of a cDNA encoding human ribosomal protein L26 and of a cDNA probably encoding human ribosomal protein L6. Nucleic Acids Res. 21: 1673 only, 1993. [PubMed: 8479925] [Full Text: https://doi.org/10.1093/nar/21.7.1673]