“Telomerase RNA component”的意思、由来-开放百科全书

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.^[6] Homologs of TERC can also be found in the Gallid herpes viruses.^[6]

Clinical significance

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

References

1. ^{{cite journal |vauthors=Feng J, Funk WD, Wang SS, Weinrich SL, Avilion AA, Chiu CP, Adams RR, Chang E, Allsopp RC, Yu J | title = The RNA component of human telomerase | journal = Science | volume = 269 | issue = 5228 | pages = 1236–41 |date=September 1995 | pmid = 7544491 | doi = 10.1126/science.7544491| url = }}
2. ^{{cite journal |vauthors=Jády BE, Richard P, Bertrand E, Kiss T | title = Cell Cycle-dependent Recruitment of Telomerase RNA and Cajal Bodies to Human Telomeres | journal = Mol. Biol. Cell | volume = 17 | issue = 2 | pages = 944–54 |date=February 2006 | pmid = 16319170 | pmc = 1356602 | doi = 10.1091/mbc.E05-09-0904 | url = }}
3. ^{{cite journal | last = McCormick-Graham | first = M |author2=Romero DP | year = 1995 | title = Ciliate telomerase RNA structural features | journal = Nucleic Acids Res | volume = 23 | pages = 1091–1097 | pmid = 7739888 | doi = 10.1093/nar/23.7.1091 | issue = 7 | pmc = 306816}}
4. ^{{cite journal | last = Lingner | first = J |author2=Hendrick LL |author3=Cech TR | year = 1994 | title = Telomerase RNAs of different ciliates have a common secondary structure and a permuted template | journal = Genes Dev | volume = 8 | pages = 1984–1998 | pmid = 7958872 | doi = 10.1101/gad.8.16.1984 | issue = 16}}
5. ^{{cite journal |vauthors=Theimer CA, Feigon J | title = Structure and function of telomerase RNA | journal = Curr. Opin. Struct. Biol. | volume = 16 | issue = 3 | pages = 307–18 | year = 2006 | pmid = 16713250 | doi = 10.1016/j.sbi.2006.05.005 }}
6. ^{{cite journal | last = Fragnet | first = L |author2=Kut E |author3=Rasschaert D | year = 2005 | title = Comparative functional study of the viral telomerase RNA based on natural mutations | journal = J Biol Chem | volume = 280 | pages = 23502–23515 | pmid = 15811851 | doi = 10.1074/jbc.M501163200 | issue = 25}}
7. ^¹{{cite web | title = Entrez Gene: TERC telomerase RNA component| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7012| accessdate = }}

Further reading

{{cite journal |vauthors=de Lange T, Jacks T |title=For better or worse? Telomerase inhibition and cancer |journal=Cell |volume=98 |issue= 3 |pages= 273–5 |year= 1999 |pmid= 10458601 |doi=10.1016/S0092-8674(00)81955-8 }}

{{cite journal |vauthors=Marrone A, Dokal I |title=Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer |journal=Expert Reviews in Molecular Medicine |volume=6 |issue= 26 |pages= 1–23 |year= 2007 |pmid= 15613268 |doi= 10.1017/S1462399404008671 }}

{{cite journal | author=Yamaguchi H |title=Mutations of telomerase complex genes linked to bone marrow failures |journal=Journal of Nippon Medical School = Nihon Ika Daigaku Zasshi |volume=74 |issue= 3 |pages= 202–9 |year= 2007 |pmid= 17625368 |doi= 10.1272/jnms.74.202}}

{{cite journal |vauthors=Zaug AJ, Linger J, Cech TR |title=Method for determining RNA 3' ends and application to human telomerase RNA |journal=Nucleic Acids Res. |volume=24 |issue= 3 |pages= 532–3 |year= 1996 |pmid= 8602368 |doi=10.1093/nar/24.3.532 | pmc=145649 }}

{{cite journal | author=Soder AI |title=Mapping of the gene for the mouse telomerase RNA component, Terc, to chromosome 3 by fluorescence in situ hybridization and mouse chromosome painting |journal=Genomics |volume=41 |issue= 2 |pages= 293–4 |year= 1997 |pmid= 9143511 |doi= 10.1006/geno.1997.4621 |name-list-format=vanc| author2=Hoare SF | author3=Muire S | display-authors=3 | last4=Balmain | first4=Allan | last5=Parkinson | first5=E.Kenneth | last6=Keith | first6=W.Nicol }}

{{cite journal | author=Zhao JQ |title=Cloning and characterization of human and mouse telomerase RNA gene promoter sequences |journal=Oncogene |volume=16 |issue= 10 |pages= 1345–50 |year= 1998 |pmid= 9546436 |doi= 10.1038/sj.onc.1201892 |name-list-format=vanc| author2=Hoare SF | author3=McFarlane R | display-authors=3 | last4=Muir | first4=Sharon | last5=Parkinson | first5=E Kenneth | last6=Black | first6=Donald M | last7=Keith | first7=W Nicol }}

{{cite journal |vauthors=Mitchell JR, Wood E, Collins K |title=A telomerase component is defective in the human disease dyskeratosis congenita |journal=Nature |volume=402 |issue= 6761 |pages= 551–5 |year= 1999 |pmid= 10591218 |doi= 10.1038/990141 }}

{{cite journal |vauthors=Chen JL, Blasco MA, Greider CW |title=Secondary structure of vertebrate telomerase RNA |journal=Cell |volume=100 |issue= 5 |pages= 503–14 |year= 2000 |pmid= 10721988 |doi=10.1016/S0092-8674(00)80687-X }}

{{cite journal | author=Wong KK |title=Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiation |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 85–8 |year= 2000 |pmid= 10973255 |doi= 10.1038/79232 |name-list-format=vanc| author2=Chang S | author3=Weiler SR | display-authors=3 | last4=Weiler | first4=Sarah R. | last5=Ganesan | first5=Shridar | last6=Chaudhuri | first6=Jayanta | last7=Zhu | first7=Chengming | last8=Artandi | first8=Steven E. | last9=Rudolph | first9=Karl Lenhard }}

{{cite journal |vauthors=Mitchell JR, Collins K |title=Human telomerase activation requires two independent interactions between telomerase RNA and telomerase reverse transcriptase |journal=Mol. Cell |volume=6 |issue= 2 |pages= 361–71 |year= 2000 |pmid= 10983983 |doi=10.1016/S1097-2765(00)00036-8 }}

{{cite journal | author=Imoto I |title=SNO is a probable target for gene amplification at 3q26 in squamous-cell carcinomas of the esophagus |journal=Biochem. Biophys. Res. Commun. |volume=286 |issue= 3 |pages= 559–65 |year= 2001 |pmid= 11511096 |doi= 10.1006/bbrc.2001.5428 |name-list-format=vanc| author2=Pimkhaokham A | author3=Fukuda Y | display-authors=3 | last4=Yang | first4=Zeng-Quan | last5=Shimada | first5=Yutaka | last6=Nomura | first6=Nobuo | last7=Hirai | first7=Hisamaru | last8=Imamura | first8=Masayuki | last9=Inazawa | first9=Johji }}

{{cite journal | author=Vulliamy T |title=The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita |journal=Nature |volume=413 |issue= 6854 |pages= 432–5 |year= 2001 |pmid= 11574891 |doi= 10.1038/35096585 |name-list-format=vanc| author2=Marrone A | author3=Goldman F | display-authors=3 | last4=Dearlove | first4=Andrew | last5=Bessler | first5=Monica | last6=Mason | first6=Philip J. | last7=Dokal | first7=Inderjeet }}

{{cite journal | author=Pruzan R |title=Allosteric inhibitors of telomerase: oligonucleotide N3′→P5′ phosphoramidates |journal=Nucleic Acids Res. |volume=30 |issue= 2 |pages= 559–68 |year= 2002 |pmid= 11788719 |doi=10.1093/nar/30.2.559 | pmc=99832 |name-list-format=vanc| author2=Pongracz K | author3=Gietzen K | display-authors=3 | last4=Wallweber | first4=G | last5=Gryaznov | first5=S }}

{{cite journal |vauthors=Zhang RG, Zhang RP, Wang XW, Xie H |title=Effects of cisplatin on telomerase activity and telomere length in BEL-7404 human hepatoma cells |journal=Cell Res. |volume=12 |issue= 1 |pages= 55–62 |year= 2004 |pmid= 11942411 |doi= 10.1038/sj.cr.7290110 }}

{{cite journal | author=Yang Y |title=Nucleolar localization of hTERT protein is associated with telomerase function |journal=Exp. Cell Res. |volume=277 |issue= 2 |pages= 201–9 |year= 2002 |pmid= 12083802 |doi=10.1006/excr.2002.5541 |name-list-format=vanc| author2=Chen Y | author3=Zhang C | display-authors=3 | last4=Huang | first4=H | last5=Weissman | first5=SM }}

{{cite journal | author=Chang JT |title=Differential regulation of telomerase activity by six telomerase subunits |journal=Eur. J. Biochem. |volume=269 |issue= 14 |pages= 3442–50 |year= 2002 |pmid= 12135483 |doi=10.1046/j.1432-1033.2002.03025.x |name-list-format=vanc| author2=Chen YL | author3=Yang HT | display-authors=3 | last4=Chen | first4=Chi-Yuan | last5=Cheng | first5=Ann-Joy }}

{{cite journal |vauthors=Gavory G, Farrow M, Balasubramanian S |title=Minimum length requirement of the alignment domain of human telomerase RNA to sustain catalytic activity in vitro |journal=Nucleic Acids Res. |volume=30 |issue= 20 |pages= 4470–80 |year= 2002 |pmid= 12384594 |doi=10.1093/nar/gkf575 | pmc=137139 }}

{{cite journal | author=Sood AK |title=p53 null mutations are associated with a telomerase negative phenotype in ovarian carcinoma |journal=Cancer Biol. Ther. |volume=1 |issue= 5 |pages= 511–7 |year= 2003 |pmid= 12496479 |doi= 10.4161/cbt.1.5.167|name-list-format=vanc| author2=Coffin J | author3=Jabbari S | display-authors=3 | last4=Buller | first4=RE | last5=Hendrix | first5=MJ | last6=Klingelhutz | first6=A }}

{{cite journal | last = Antal | first = M |author2=Boros E |author3=Solymosy F |author4=Kiss T | year = 2002 | title = Analysis of the structure of human telomerase RNA in vivo | journal = Nucleic Acids Res | volume = 30 | pages = 912–920 | pmid = 11842102 | doi = 10.1093/nar/30.4.912 | issue = 4 | pmc = 100349}}

External links

[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dkc GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita]

[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pf GeneReviews/NCBI/NIH/UW entry on Pulmonary Fibrosis, Familial]

[https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7012 EntrezGene page for TERC]

2 : Non-coding RNA|Telomeres