HGNC Approved Gene Symbol: RPL18
Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38) : 19:48,615,331-48,619,178 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 19q13.33 | ?Diamond-Blackfan anemia 18 | 618310 | Autosomal dominant | 3 |
The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466).
Puder et al. (1993) isolated a partial human RPL18 cDNA from a cDNA library generated by subtracting a normal colon cDNA library from a colon tumor cDNA library. By PCR of a human normal colon cDNA library using oligonucleotides based on the partial cDNA, they cloned a full-length RPL18 cDNA. The deduced 188-amino acid human RPL18 protein is 97% identical to rat Rpl18. Northern blot analysis detected an approximately 650-bp RPL18 transcript in human liver and colon.
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the human RPL18 gene to chromosome 19q.
In a father and son (family NCI-172) with Diamond-Blackfan anemia-18 (DBA18; 618310), Mirabello et al. (2017) identified a heterozygous missense mutation in the RPL18 gene (L51S; 604179.0001). Analysis of pre-rRNA processing in patient cells showed an increase in the 36S subunit compared to controls, indicating a defect in pre-rRNA processing.
In a father and son (family NCI-172) with Diamond-Blackfan anemia-18 (DBA18; 618310), Mirabello et al. (2017) identified a heterozygous mutation in the RPL18 gene (g.49120619T-C, GRCh37) resulting in a leu51-to-ser (L51S) substitution. The mutation, which was found by whole-exome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Analysis of pre-rRNA processing in patient cells showed an increase in the 36S subunit compared to controls, indicating a defect in pre-rRNA processing. The patients were part of a cohort of 87 families with a similar disorder who underwent genetic analysis; mutations in known DBA-associated genes were excluded in the family.
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]
Mirabello, L., Khincha, P. P., Ellis, S. R., Giri, N., Brodie, S., Chandrasekharappa, S. C., Donovan, F. X., Zhou, W., Hicks, B. D., Boland, J. F., Yeager, M., Jones, K., Zhu, B., Wang, M., Alter, B. P., Savage, S. A. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J. Med. Genet. 54: 417-425, 2017. [PubMed: 28280134] [Full Text: https://doi.org/10.1136/jmedgenet-2016-104346]
Puder, M., Barnard, G. F., Staniunas, R. J., Steele, G. D., Jr., Chen, L. B. Nucleotide and deduced amino acid sequence of human ribosomal protein L18. Biochim. Biophys. Acta 1216: 134-136, 1993. [PubMed: 8218404] [Full Text: https://doi.org/10.1016/0167-4781(93)90050-n]