Alternative titles; symbols
Cytogenetic location: 1q42.11-q42.13 Genomic coordinates (GRCh38): 1:223,900,001-230,500,000
The 5S ribosomal RNA (rRNA) and ribosomal protein L5 (RPL5; 603634) are essential components of nucleolar ribosomes. Delivery of 5S rRNA to the nucleus involves a complex intracellular trafficking pattern that includes nuclear export and reimport in association with L5. A portion of 5S rRNA can also be diverted to mitochondria in association with enzymatically inactive rhodanese (TST; 180370), where it participates in mitochondrial protein synthesis (summary by Smirnov et al., 2010).
Forget and Weissman (1967, 1969) sequenced 5S ribosomal RNA of human KB carcinoma cells and demonstrated 2 forms differing by the presence or absence of 1 nucleotide. The 2 forms have 120 and 121 nucleotides, respectively.
The discreteness of the gene(s) for 5S RNA is indicated by the complete sequencing data on 5S RNA and by their localization to the long arm of chromosome 1 through in situ annealing experiments (Steffensen et al., 1974). Steffensen et al. (1975) further narrowed the localization to chromosome 1q41 or 1q42. Cook and Hamerton (1979) gave the SRO as 1q42-q43.
Sorensen et al. (1991) used in situ hybridization in connection with metaphase spreads from a balanced reciprocal translocation carrier, 46,XX,t(1;7)(q42.13;p11.1), to show that the 5S rRNA genes were entirely localized on the normal chromosome 1 and the derivative chromosome 1. This narrowed the chromosome position of the major fraction of 5S rRNA genes and pseudogenes to the region 1q42.11-q42.13.
Through in situ hybridization of different tritiated probes to metaphase spreads, Lomholt et al. (1995) demonstrated that a minor fraction of the 5S rRNA genes is localized at band 1q31 (RN5S3@). This fraction amounted to 25-30% of the genes found in the region 1q42.11-q42.13. Results obtained with the chromosomes of a balanced translocation carrier involving this region indicated that the major cluster is localized in band 1q42.13.
Matsuda et al. (1994) demonstrated by fluorescence in situ hybridization that the major cluster of mouse 5S rRNA genes are located on chromosome 8. Although most of the distal long arm of human chromosome 1 is homologous to mouse chromosome 1, some loci near the telomere, e.g., angiotensinogen (AGT; 106150), have their murine homolog on chromosome 8.
Using polysome assays and crosslinking experiments with in vitro-translated human mRNA, Lin et al. (2001) found that ribosomal protein L5 and 5S rRNA associated in an L5-5S ribonucleoprotein (RNP) particle only if 5S rRNA was present at the beginning of the translation reaction. L5-5S rRNP was not observed if 5S rRNA was added after the completion of L5 synthesis. Mutation analysis revealed that residues 35 through 50 of L5 engaged in the interaction, but the remainder of the L5 protein was required for stable formation of the RNP complex. Association of L5 with 5S rRNA significantly enhanced L5 nuclear import into injected Xenopus oocytes.
Smirnov et al. (2008) stated that human 5S rRNA has 3 structural domains, designated alpha, beta, and gamma, that generally fold into 3 branches made up of numerous helices and loops. By mutating specific nucleotides, they found that the alpha and gamma domains contained elements required for mitochondrial import.
Smirnov et al. (2010) found that human 5S rRNA required 2 protein factors for mitochondrial import, and they identified 1 of these as mitochondrial rhodanese. Rhodanese bound to 5S rRNA cotranslationally to form a tight complex. In this complex, 5S rRNA functioned as a chaperone for misfolded rhodanese and maintained rhodanese in its enzymatically inactive form. Interaction with rhodanese was required for mitochondrial import of 5S rRNA. Knockdown of rhodanese in human HepG2 cells via small interfering RNA resulted in reduced mitochondrial translational activity and reduced growth on galactose-containing medium, indicating insufficient mitochondrial respiration activity.
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Lin, E., Lin, S.-W., Lin, A. The participation of 5S rRNA in the co-translational formation of a eukaryotic 5S ribonucleoprotein complex. Nucleic Acids Res. 29: 2510-2516, 2001. [PubMed: 11410658] [Full Text: https://doi.org/10.1093/nar/29.12.2510]
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Matsuda, Y., Moriwaki, K., Chapman, V. M., Hoi-Sen, Y., Akbarzadeh, J., Suzuki, H. Chromosomal mapping of mouse 5S rRNA genes by direct R-banding fluorescence in situ hybridization. Cytogenet. Cell Genet. 66: 246-249, 1994. [PubMed: 8162702] [Full Text: https://doi.org/10.1159/000133704]
Smirnov, A., Comte, C., Mager-Heckel, A.-M., Addis, V., Krasheninnikov, I. A., Martin, R. P., Entelis, N., Tarassov, I. Mitochondrial enzyme rhodanese is essential for 5S ribosomal RNA import into human mitochondria. J. Biol. Chem. 285: 30792-30803, 2010. [PubMed: 20663881] [Full Text: https://doi.org/10.1074/jbc.M110.151183]
Smirnov, A., Tarassov, I., Mager-Heckel, A.-M., Letzelter, M., Martin, R. P., Krasheninnikov, I. A., Entelis, N. Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria. RNA 14: 749-759, 2008. [PubMed: 18314502] [Full Text: https://doi.org/10.1261/rna.952208]
Sorensen, P. D., Lomholt, B., Frederiksen, S., Tommerup, N. Fine mapping of human 5S rRNA genes to chromosome 1q42.11-q42.13. Cytogenet. Cell Genet. 57: 26-29, 1991. [PubMed: 1855389] [Full Text: https://doi.org/10.1159/000133107]
Steffensen, D. M., Prensky, W., Dufy, P. Localization of the 5S ribosomal RNA genes in the human genome. Cytogenet. Cell Genet. 13: 153-154, 1974. [PubMed: 4827485] [Full Text: https://doi.org/10.1159/000130260]
Steffensen, D. M., Prensky, W., Mutton, D., Hamerton, J. L. Mapping the human 5S RNA genes on chromosome 1 using translocations. Birth Defects Orig. Art. Ser. XI(3): 264-268, 1975.