Telomerase RNA component

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
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Vertebrate telomerase RNA
File:RF00024.jpg
Identifiers
Symbol	Telomerase-vert
Rfam	RF00024
Other data
RNA type	Gene
Domain(s)	Eukaryote; Virus
PDB structures	PDBe

Ciliate telomerase RNA
File:RF00025.jpg
Identifiers
Symbol	Telomerase-cil
Rfam	RF00025
Other data
RNA type	Gene
Domain(s)	Eukaryote
PDB structures	PDBe

Saccharomyces cerevisiae telomerase RNA
File:RF01050.png
Identifiers
Symbol	Sacc_telomerase
Rfam	RF01050
Other data
RNA type	Gene
Domain(s)	Eukaryote
PDB structures	PDBe

Telomerase RNA component, also known as TERC, is an ncRNA found in eukaryotes that is a component of telomerase, the enzyme used to extend telomeres. TERC serves as a template for telomere replication (reverse transcription) by telomerase. Telomerase RNAs differ greatly in sequence and structure between vertebrates, ciliates and yeasts, but they share a 5' pseudoknot structure close to the template sequence. The vertebrate telomerase RNAs have a 3' H/ACA snoRNA-like domain.

Function

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. This repeat does vary across eukaryotes (see the table on the telomere article for a complete list). The enzyme consists of a protein component (TERT) with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. CCCUAA found near position 50 of the vertebrate TERC sequence acts as the template. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mice suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Homologs of TERC can also be found in the Gallid herpes viruses.

Clinical significance

Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.

Further reading

• de Lange T, Jacks T (1999). "For better or worse? Telomerase inhibition and cancer". Cell. 98 (3): 273–5. doi:10.1016/S0092-8674(00)81955-8. PMID 10458601.
• Marrone A, Dokal I (2007). "Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer". Expert Reviews in Molecular Medicine. 6 (26): 1–23. doi:10.1017/S1462399404008671. PMID 15613268.
• Yamaguchi H (2007). "Mutations of telomerase complex genes linked to bone marrow failures". Journal of Nippon Medical School = Nihon Ika Daigaku zasshi. 74 (3): 202–9. doi:10.1272/jnms.74.202. PMID 17625368.
• Zaug AJ, Linger J, Cech TR (1996). "Method for determining RNA 3' ends and application to human telomerase RNA". Nucleic Acids Res. 24 (3): 532–3. doi:10.1093/nar/24.3.532. PMC 145649. PMID 8602368.
• Soder AI, Hoare SF, Muire S, et al. (1997). "Mapping of the gene for the mouse telomerase RNA component, Terc, to chromosome 3 by fluorescence in situ hybridization and mouse chromosome painting". Genomics. 41 (2): 293–4. doi:10.1006/geno.1997.4621. PMID 9143511.
• Zhao JQ, Hoare SF, McFarlane R, et al. (1998). "Cloning and characterization of human and mouse telomerase RNA gene promoter sequences". Oncogene. 16 (10): 1345–50. doi:10.1038/sj.onc.1201892. PMID 9546436.
• Mitchell JR, Wood E, Collins K (1999). "A telomerase component is defective in the human disease dyskeratosis congenita". Nature. 402 (6761): 551–5. doi:10.1038/990141. PMID 10591218.
• Chen JL, Blasco MA, Greider CW (2000). "Secondary structure of vertebrate telomerase RNA". Cell. 100 (5): 503–14. doi:10.1016/S0092-8674(00)80687-X. PMID 10721988.
• Wong KK, Chang S, Weiler SR, et al. (2000). "Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiation". Nat. Genet. 26 (1): 85–8. doi:10.1038/79232. PMID 10973255.
• Mitchell JR, Collins K (2000). "Human telomerase activation requires two independent interactions between telomerase RNA and telomerase reverse transcriptase". Mol. Cell. 6 (2): 361–71. doi:10.1016/S1097-2765(00)00036-8. PMID 10983983.
• Imoto I, Pimkhaokham A, Fukuda Y, et al. (2001). "SNO is a probable target for gene amplification at 3q26 in squamous-cell carcinomas of the esophagus". Biochem. Biophys. Res. Commun. 286 (3): 559–65. doi:10.1006/bbrc.2001.5428. PMID 11511096.
• Vulliamy T, Marrone A, Goldman F, et al. (2001). "The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita". Nature. 413 (6854): 432–5. doi:10.1038/35096585. PMID 11574891.
• Pruzan R, Pongracz K, Gietzen K, et al. (2002). "Allosteric inhibitors of telomerase: oligonucleotide N3′→P5′ phosphoramidates". Nucleic Acids Res. 30 (2): 559–68. doi:10.1093/nar/30.2.559. PMC 99832. PMID 11788719.
• Zhang RG, Zhang RP, Wang XW, Xie H (2004). "Effects of cisplatin on telomerase activity and telomere length in BEL-7404 human hepatoma cells". Cell Res. 12 (1): 55–62. doi:10.1038/sj.cr.7290110. PMID 11942411.
• Yang Y, Chen Y, Zhang C, et al. (2002). "Nucleolar localization of hTERT protein is associated with telomerase function". Exp. Cell Res. 277 (2): 201–9. doi:10.1006/excr.2002.5541. PMID 12083802.
• Chang JT, Chen YL, Yang HT, et al. (2002). "Differential regulation of telomerase activity by six telomerase subunits". Eur. J. Biochem. 269 (14): 3442–50. doi:10.1046/j.1432-1033.2002.03025.x. PMID 12135483.
• Gavory G, Farrow M, Balasubramanian S (2002). "Minimum length requirement of the alignment domain of human telomerase RNA to sustain catalytic activity in vitro". Nucleic Acids Res. 30 (20): 4470–80. doi:10.1093/nar/gkf575. PMC 137139. PMID 12384594.
• Sood AK, Coffin J, Jabbari S, et al. (2003). "p53 null mutations are associated with a telomerase negative phenotype in ovarian carcinoma". Cancer Biol. Ther. 1 (5): 511–7. doi:10.4161/cbt.1.5.167. PMID 12496479.
• Antal, M; Boros E; Solymosy F; Kiss T (2002). "Analysis of the structure of human telomerase RNA in vivo". Nucleic Acids Res. 30 (4): 912&ndash, 920. doi:10.1093/nar/30.4.912. PMC 100349. PMID 11842102.

External links

• GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita
• GeneReviews/NCBI/NIH/UW entry on Pulmonary Fibrosis, Familial
• EntrezGene page for TERC
• Page for Vertebrate telomerase RNA at Rfam
• Page for Ciliate telomerase RNA at Rfam
• Page for Saccharomyces telomerase at Rfam