HGNC Approved Gene Symbol: RPS10
Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38) : 6:34,417,454-34,426,069 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 6p21.31 | Diamond-Blackfan anemia 9 | 613308 | Autosomal dominant | 3 |
The mammalian ribosome is a macromolecular assembly of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466).
Adams et al. (1992) isolated an RPS10 cDNA as a human brain EST.
By searching sequence databases with the partial sequences of randomly selected cDNAs from a human colorectal cDNA library, Frigerio et al. (1995) identified cDNAs encoding homologs of rat ribosomal proteins S5 (RPS5; 603630), S9 (RPS9; 603631), S10 (RPS10), S29 (RPS29; 603633), L5 (RPL5; 603634), L21 (RPL21; 603636), L27a (RPL27A; 603637), and L28 (RPL28; 603638). Frigerio et al. (1995) completed the cDNA sequences of these human ribosomal proteins. The deduced 165-amino acid human RPS10 differs from rat Rps10 by 2 amino acids; neither protein contains cysteine residues. Northern blot analysis suggested variable expression of RPS10 in colorectal cancers compared to adjacent normal tissues, although no correlation between the level of expression and the severity of the disease was found.
Boria et al. (2010) stated that the RPS10 gene contains 6 exons spanning 8.65 kb.
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the human RPS10 gene to chromosome 6p.
Boria et al. (2010) stated that the RPS10 gene maps to chromosome 6p21.31.
Using siRNA knockdown in HeLa cells to analyze the role of RPS10 in pre-rRNA processing, Doherty et al. (2010) found that depletion of RPS10 led to decreased levels of 18S rRNA, indicating that RPS10 is necessary for production of the small subunit. RNA blot analysis showed accumulation of 43S, 26S, and 18S-E pre-rRNAs, consistent with defects in cleavage at both ends of the 18S rRNA.
Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia (see DBA9, 613308) who were negative for mutation in 7 known DBA genes and identified 3 mutations in the RPS10 gene (603632.0001-603632.0003) in 5 patients.
In a male patient with Diamond-Blackfan anemia (613308), Doherty et al. (2010) identified heterozygosity for a 3G-A transition in exon 1 of the RPS10 gene, causing a met1-to-thr (M1T) substitution that eliminates the start codon and is predicted to result in a truncated 144-residue protein. The mutation was not found in at least 520 control chromosomes.
In a female patient who was diagnosed with Diamond-Blackfan anemia (613308) at 2 months of age, Doherty et al. (2010) identified heterozygosity for a 1-bp insertion (260insC) in exon 3 of the RPS10 gene, resulting in a frameshift and a premature termination codon. The mutation was not found in her unaffected father or in at least 520 control chromosomes.
In a male and 2 female probands with Diamond-Blackfan anemia (613308), Doherty et al. (2010) identified heterozygosity for a 337C-T transition in exon 4 of the RPS10 gene, resulting in an arg113-to-ter (R113X) substitution. Two of the patients were responsive to steroid therapy; the third, a female with a de novo mutation who was diagnosed at birth, was unresponsive to steroid therapy and was also noted to have a webbed neck. The mutation was not found in at least 520 control chromosomes.
Gerrard et al. (2013) identified the R113X mutation in the RPS10 gene in a 4-year-old girl with DBA. The mutation was not found in her parents, suggesting that it occurred de novo.
Adams, M. D., Dubnick, M., Kerlavage, A. R., Moreno, R., Kelley, J. M., Utterback, T. R., Nagle, J. W., Fields, C., Venter, J. C. Sequence identification of 2,375 human brain genes. Nature 355: 632-634, 1992. Note: Comment: Nature 357: 367-368, 1992. [PubMed: 1538749] [Full Text: https://doi.org/10.1038/355632a0]
Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31: 1269-1279, 2010. [PubMed: 20960466] [Full Text: https://doi.org/10.1002/humu.21383]
Doherty, L., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Clinton, C., Schneider, H. E., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., Matysiak, M., Glader, B., Arceci, R. J., Farrar, J. E., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Gazda, H. T. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 86: 222-228, 2010. Note: Erratum: Am. J. Hum. Genet 86: 655-656, 2010. [PubMed: 20116044] [Full Text: https://doi.org/10.1016/j.ajhg.2009.12.015]
Frigerio, J.-M., Berthezene, P., Garrido, P., Ortiz, E., Barthellemy, S., Vasseur, S., Sastre, B., Seleznieff, I., Dagorn, J. C., Iovanna, J. L. Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing. Hum. Molec. Genet. 4: 37-43, 1995. [PubMed: 7711732] [Full Text: https://doi.org/10.1093/hmg/4.1.37]
Frigerio, J.-M., Dagorn, J.-C., Iovanna, J. L. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. Biochim. Biophys. Acta 1262: 64-68, 1995. [PubMed: 7772601] [Full Text: https://doi.org/10.1016/0167-4781(95)00045-i]
Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Brit. J. Haemat. 162: 530-536, 2013. [PubMed: 23718193] [Full Text: https://doi.org/10.1111/bjh.12397]
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]