RNK komponenta telomeraze
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| RNK komponenta telomeraze | |||||||||||
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 3D reprezentacija dela RNK komponente telomeraze. Ovo je rešenje strukture P2b-P3 pseudočvora iz ljudske telomerazne RNK.[1] | |||||||||||
| Identifikatori | |||||||||||
| Simboli | TERC; DKCA1; PFBMFT2; SCARNA19; TR; TRC3; hTR | ||||||||||
| Vanjski ID | OMIM: 602322 MGI: 109558 GeneCards: TERC Gene | ||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 7012 | 21748 | |||||||||
| Ensembl | ENSG00000200182 | ENSMUSG00000064796 | |||||||||
| UniProt | n/a | n/a | |||||||||
| Ref. Sekv. (iRNK) | NR_001566 | NR_001579 | |||||||||
| Ref. Sekv. (protein) | n/a | n/a | |||||||||
| Lokacija (UCSC) | Chr 3: 169.48 - 169.48 Mb | Chr 3: 96.22 - 96.22 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
| Telomerazna RNK kičmenjaka | |
|---|---|
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| Identifikatori | |
| Simbol | Telomerase-vert |
| Rfam | RF00024 |
| Drugi podaci | |
| RNK tip | Gen |
| Domain(i) | Eukariote; Virus |
| Telomerazna RNK trepljara | |
|---|---|
| |
| Identifikatori | |
| Simbol | Telomerase-cil |
| Rfam | RF00025 |
| Drugi podaci | |
| RNK tip | Gen |
| Domain(i) | Eukariote |
| Telomerazna RNK Saccharomyces cerevisiae | |
|---|---|
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| Identifikatori | |
| Simbol | Sacc_telomerase |
| Rfam | RF01050 |
| Drugi podaci | |
| RNK tip | Gen |
| Domain(i) | Eukariote |
RNK komponenta telomeraze, takođe poznata ka TERC, je RNK gen prisutan kod eukariota, koji je komponenta telomeraze, enzima koji produžava telomere.[2][3] TERC služe kao šabloni za telomernu replikaciju (reverznu transkripciju) posredstvom telomeraze. Telomerazne RNK se znatno razlikuju po sekvuenci i strukturi između kičmenjaka, trepljara i kvasaca, mada oni imaju zajedničku strukturu 5' pseudočvora u blizini sekvence šablona. Telomerazna RNA kičmenjaka ima 3' H/ACA domen sličan snoRNK.[4][5][6]
Funkcija[edit | edit source]
Telomeraza je ribonukleoproteinska polimeraza koja održava telomerne krajeve dodavanjem telomernih ponavljanja TTAGGG. Ovo ponavljanje varira među eukariotama. Enzim se sastoji od proteinske komponente (TERT) sa reverzno transkriptaznom aktivnošću, i RNK komponente, kodirane ovim genom, koja služi kao šablon za telomerno ponavljanje. Izaražavanje telomeraze ima ulogu u ćelijskom starenju, te je normalno zastupljeno u postnatalnim somatskim ćelijama u kojima se javlja progresivno skraćivanje telomera. Deregulacija izražavanja telomeraze u somatskim ćelijama može da doprinese onkogenezi. Studije na miševima sugeriraju da telomeraze takođe učestvuju u hromozomalnoj popravci, pošto do novo sinteze telomernih ponavljanja može doći pri dvolančanim prekidima.[7] Homolozi TERC se takođe mogu naći u Gallid herpes virusima.[8]
Klinički značaj[edit | edit source]
Mutacije ovog gena uzrokuju autosomalno dominantni diskeratosis kongenita, i mogu da budu asocirane sa delom slučajeva aplastične anemije.[7]
Reference[edit | edit source]
- ↑ 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. PMID 15749017. doi:10.1016/j.molcel.2005.01.017.
- ↑ 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. PMID 7544491. doi:10.1126/science.7544491.
- ↑ 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. PMC 1356602. PMID 16319170. doi:10.1091/mbc.E05-09-0904.
- ↑ McCormick-Graham, M; Romero DP (1995). "Ciliate telomerase RNA structural features". Nucleic Acids Res 23 (7): 1091–1097. PMC 306816. PMID 7739888. doi:10.1093/nar/23.7.1091.
- ↑ 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. PMID 7958872. doi:10.1101/gad.8.16.1984.
- ↑ Theimer CA, Feigon J (2006). "Structure and function of telomerase RNA". Curr. Opin. Struct. Biol. 16 (3): 307–18. PMID 16713250. doi:10.1016/j.sbi.2006.05.005.
- ↑ 7,0 7,1 "Entrez Gene: TERC telomerase RNA component". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7012.
- ↑ 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. PMID 15811851. doi:10.1074/jbc.M501163200.
Literatura[edit | edit source]
- de Lange T, Jacks T (1999). "For better or worse? Telomerase inhibition and cancer". Cell 98 (3): 273–5. PMID 10458601. doi:10.1016/S0092-8674(00)81955-8.
- Marrone A, Dokal I (2007). "Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer". Expert reviews in molecular medicine 6 (26): 1–23. PMID 15613268. doi:10.1017/S1462399404008671.
- 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. PMID 17625368. doi:10.1272/jnms.74.202.
- 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. PMC 145649. PMID 8602368. doi:10.1093/nar/24.3.532.
- 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. PMID 9143511. doi:10.1006/geno.1997.4621.
- 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. PMID 9546436. doi:10.1038/sj.onc.1201892.
- Mitchell JR, Wood E, Collins K (1999). "A telomerase component is defective in the human disease dyskeratosis congenita". Nature 402 (6761): 551–5. PMID 10591218. doi:10.1038/990141.
- Chen JL, Blasco MA, Greider CW (2000). "Secondary structure of vertebrate telomerase RNA". Cell 100 (5): 503–14. PMID 10721988. doi:10.1016/S0092-8674(00)80687-X.
- 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. PMID 10973255. doi:10.1038/79232.
- 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. PMID 10983983. doi:10.1016/S1097-2765(00)00036-8.
- 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. PMID 11511096. doi:10.1006/bbrc.2001.5428.
- 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. PMID 11574891. doi:10.1038/35096585.
- Pruzan R; Pongracz K; Gietzen K et al. (2002). "Allosteric inhibitors of telomerase: oligonucleotide N3′→P5′ phosphoramidates". Nucleic Acids Res. 30 (2): 559–68. PMC 99832. PMID 11788719. doi:10.1093/nar/30.2.559.
- 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. PMID 11942411. doi:10.1038/sj.cr.7290110.
- 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. PMID 12083802. doi:10.1006/excr.2002.5541.
- 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. PMID 12135483. doi:10.1046/j.1432-1033.2002.03025.x.
- 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. PMC 137139. PMID 12384594. doi:10.1093/nar/gkf575.
- 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. 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): 912–920. PMC 100349. PMID 11842102. doi:10.1093/nar/30.4.912.
Vanjske veze[edit | edit source]
- GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita
- GeneReviews/NCBI/NIH/UW entry on Pulmonary Fibrosis, Familial
- EntrezGene page for TERC
- Rfam strana za Vertebrate telomerase RNA
- Rfam strana za Ciliate telomerase RNA
- Rfam strana za Saccharomyces telomerase
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