Telomerase RNA component

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Telomerase RNA component
PDB 1ymo EBI.png
A 3D representation of part of the telomerase RNA component. This is the solution structure of the P2b-P3 pseudoknot from human telomerase RNA.[1]
Identifiers
Symbols TERC ; DKCA1; PFBMFT2; SCARNA19; TR; TRC3; hTR
External IDs OMIM602322 MGI109558 GeneCards: TERC Gene
Orthologs
Species Human Mouse
Entrez 7012 21748
Ensembl ENSG00000200182 ENSMUSG00000064796
UniProt n/a n/a
RefSeq (mRNA) NR_001566 NR_001579
RefSeq (protein) n/a n/a
Location (UCSC) Chr 3:
169.48 – 169.48 Mb
Chr 3:
96.22 – 96.22 Mb
PubMed search [1] [2]
Vertebrate telomerase RNA
RF00024.jpg
Identifiers
Symbol Telomerase-vert
Rfam RF00024
Other data
RNA type Gene
Domain(s) Eukaryote; Virus
Ciliate telomerase RNA
RF00025.jpg
Identifiers
Symbol Telomerase-cil
Rfam RF00025
Other data
RNA type Gene
Domain(s) Eukaryote
Saccharomyces cerevisiae telomerase RNA
RF01050.png
Identifiers
Symbol Sacc_telomerase
Rfam RF01050
Other data
RNA type Gene
Domain(s) Eukaryote

Telomerase RNA component, also known as TERC, is an RNA gene found in eukaryotes, that is a component of telomerase used to extend telomeres.[2][3] 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.[4][5][6]

Function[edit]

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. 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 mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks.[7] Homologs of TERC can also be found in the Gallid herpes viruses.[8]

Clinical significance[edit]

Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.[7]

References[edit]

  1. ^ PDB 1ymo; Theimer CA, Blois CA, Feigon J (2005). "Structure of the human telomerase RNA pseudoknot reveals conserved tertiary interactions essential for function.". Mol Cell 17 (5): 671–82. doi:10.1016/j.molcel.2005.01.017. PMID 15749017. 
  2. ^ Feng J, Funk WD, Wang SS, Weinrich SL, Avilion AA, Chiu CP, Adams RR, Chang E, Allsopp RC, Yu J (September 1995). "The RNA component of human telomerase". Science 269 (5228): 1236–41. doi:10.1126/science.7544491. PMID 7544491. 
  3. ^ Jády BE, Richard P, Bertrand E, Kiss T (February 2006). "Cell Cycle-dependent Recruitment of Telomerase RNA and Cajal Bodies to Human Telomeres". Mol. Biol. Cell 17 (2): 944–54. doi:10.1091/mbc.E05-09-0904. PMC 1356602. PMID 16319170. 
  4. ^ McCormick-Graham, M; Romero DP (1995). "Ciliate telomerase RNA structural features". Nucleic Acids Res 23 (7): 1091–1097. doi:10.1093/nar/23.7.1091. PMC 306816. PMID 7739888. 
  5. ^ Lingner, J; Hendrick LL; Cech TR (1994). "Telomerase RNAs of different ciliates have a common secondary structure and a permuted template". Genes Dev 8 (16): 1984–1998. doi:10.1101/gad.8.16.1984. PMID 7958872. 
  6. ^ Theimer CA, Feigon J (2006). "Structure and function of telomerase RNA". Curr. Opin. Struct. Biol. 16 (3): 307–18. doi:10.1016/j.sbi.2006.05.005. PMID 16713250. 
  7. ^ a b "Entrez Gene: TERC telomerase RNA component". 
  8. ^ Fragnet, L; Kut E; Rasschaert D (2005). "Comparative functional study of the viral telomerase RNA based on natural mutations". J Biol Chem. 280 (25): 23502–23515. doi:10.1074/jbc.M501163200. PMID 15811851. 

Further reading[edit]

External links[edit]