HGNC Approved Gene Symbol: RPS15A
Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38) : 16:18,781,295-18,790,334 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 16p12.3 | ?Diamond-Blackfan anemia 20 | 618313 | Autosomal dominant | 3 |
The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins, including RPS15A.
The deduced ribosomal protein 15a (RPS15A) has 130 amino acids (SWISS-PROT P62244).
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the human RPS15A gene to 16p.
In a mother and 2 daughters with Diamond-Blackfan anemia-20 (DBA20; 618313), Ikeda et al. (2017) identified a heterozygous splicing mutation in the RPS15A gene (603674.0001) that was demonstrated to result in a loss of function and haploinsufficiency. Expression of the mutation in human erythroid K562 cells showed that it suppressed cell proliferation and caused abnormal levels of several pre-rRNA subunits, indicating disturbed RNA processing.
Ikeda et al. (2017) found that morpholino knockdown of the rps15a gene in zebrafish embryos resulted in abnormalities, including thin yolk sac, bent tail, and a markedly reduced erythrocyte production. The mutant phenotype could be rescued by expression of wildtype rps15a.
In a mother and her 2 daughters with Diamond-Blackfan anemia-20 (DBA20; 618313), Ikeda et al. (2017) identified a heterozygous c.213G-A transition (c.213G-A, NM_001019.4) in the last nucleotide of exon 3 of the RPS15A gene that, although a synonymous change (K71K), was demonstrated to cause abnormal splicing, with deletion of the third exon, loss of function, and haploinsufficiency. The mutation, which was found by whole-exome sequencing and confirmed by direct sequencing, segregated with the disorder in the family. It was not found in the ExAC database. Expression of the mutation in human erythroid K562 cells showed that it suppressed cell proliferation and caused abnormal levels of several pre-rRNA subunits, indicating disturbed RNA processing. The family was 1 of 141 families in the cohort, thus accounting for 0.7%.
Ikeda, F., Yoshida, K., Toki, T., Uechi, T., Ishida, S., Nakajima, Y., Sasahara, Y., Okuno, Y., Kanezaki, R., Terui, K., Kamio, T., Kobayashi, A., and 14 others. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. (Letter) Haematologica 102: e93-e96, 2017. Note: Electronic Article. [PubMed: 27909223] [Full Text: https://doi.org/10.3324/haematol.2016.153932]
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]