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Showing Protein Telomerase reverse transcriptase (HMDBP02739)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 2 metabolites
Identification
HMDB Protein ID HMDBP02739
Secondary Accession Numbers
  • 8244
Name Telomerase reverse transcriptase
Synonyms
  1. HEST2
  2. TP2
  3. Telomerase catalytic subunit
  4. Telomerase-associated protein 2
Gene Name TERT
Protein Type Enzyme
Biological Properties
General Function Involved in RNA binding
Specific Function Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis.
Pathways
  • Human T-cell leukemia virus 1 infection
Reactions
Deoxynucleoside triphosphate + DNA(n) → Pyrophosphate + DNA(n+1) details
GO Classification
Biological Process
negative regulation of apoptotic process
DNA strand elongation
replicative senescence
telomere formation via telomerase
telomere maintenance via telomerase
Cellular Component
cytoplasm
nucleolus
nucleoplasm
PML body
telomerase holoenzyme complex
nuclear telomere cap complex
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
telomeric template rna reverse transcriptase activity
rna-directed dna polymerase activity
nucleotidyltransferase activity
dna polymerase activity
nucleic acid binding
dna binding
rna binding
Molecular Function
metal ion binding
telomeric DNA binding
protein homodimerization activity
telomeric RNA binding
telomeric template RNA reverse transcriptase activity
Process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
dna metabolic process
dna replication
rna-dependent dna replication
Cellular Location
  1. Nucleus
  2. Nucleus
  3. Nucleus
  4. Cytoplasm
  5. nucleolus
  6. Chromosome
  7. nucleoplasm
  8. telomere
Gene Properties
Chromosome Location 5
Locus 5p15.33
SNPs TERT
Gene Sequence 
>3399 bp
ATGCCGCGCGCTCCCCGCTGCCGAGCCGTGCGCTCCCTGCTGCGCAGCCACTACCGCGAG
GTGCTGCCGCTGGCCACGTTCGTGCGGCGCCTGGGGCCCCAGGGCTGGCGGCTGGTGCAG
CGCGGGGACCCGGCGGCTTTCCGCGCGCTGGTGGCCCAGTGCCTGGTGTGCGTGCCCTGG
GACGCACGGCCGCCCCCCGCCGCCCCCTCCTTCCGCCAGGTGTCCTGCCTGAAGGAGCTG
GTGGCCCGAGTGCTGCAGAGGCTGTGCGAGCGCGGCGCGAAGAACGTGCTGGCCTTCGGC
TTCGCGCTGCTGGACGGGGCCCGCGGGGGCCCCCCCGAGGCCTTCACCACCAGCGTGCGC
AGCTACCTGCCCAACACGGTGACCGACGCACTGCGGGGGAGCGGGGCGTGGGGGCTGCTG
CTGCGCCGCGTGGGCGACGACGTGCTGGTTCACCTGCTGGCACGCTGCGCGCTCTTTGTG
CTGGTGGCTCCCAGCTGCGCCTACCAGGTGTGCGGGCCGCCGCTGTACCAGCTCGGCGCT
GCCACTCAGGCCCGGCCCCCGCCACACGCTAGTGGACCCCGAAGGCGTCTGGGATGCGAA
CGGGCCTGGAACCATAGCGTCAGGGAGGCCGGGGTCCCCCTGGGCCTGCCAGCCCCGGGT
GCGAGGAGGCGCGGGGGCAGTGCCAGCCGAAGTCTGCCGTTGCCCAAGAGGCCCAGGCGT
GGCGCTGCCCCTGAGCCGGAGCGGACGCCCGTTGGGCAGGGGTCCTGGGCCCACCCGGGC
AGGACGCGTGGACCGAGTGACCGTGGTTTCTGTGTGGTGTCACCTGCCAGACCCGCCGAA
GAAGCCACCTCTTTGGAGGGTGCGCTCTCTGGCACGCGCCACTCCCACCCATCCGTGGGC
CGCCAGCACCACGCGGGCCCCCCATCCACATCGCGGCCACCACGTCCCTGGGACACGCCT
TGTCCCCCGGTGTACGCCGAGACCAAGCACTTCCTCTACTCCTCAGGCGACAAGGAGCAG
CTGCGGCCCTCCTTCCTACTCAGCTCTCTGAGGCCCAGCCTGACTGGCGCTCGGAGGCTC
GTGGAGACCATCTTTCTGGGTTCCAGGCCCTGGATGCCAGGGACTCCCCGCAGGTTGCCC
CGCCTGCCCCAGCGCTACTGGCAAATGCGGCCCCTGTTTCTGGAGCTGCTTGGGAACCAC
GCGCAGTGCCCCTACGGGGTGCTCCTCAAGACGCACTGCCCGCTGCGAGCTGCGGTCACC
CCAGCAGCCGGTGTCTGTGCCCGGGAGAAGCCCCAGGGCTCTGTGGCGGCCCCCGAGGAG
GAGGACACAGACCCCCGTCGCCTGGTGCAGCTGCTCCGCCAGCACAGCAGCCCCTGGCAG
GTGTACGGCTTCGTGCGGGCCTGCCTGCGCCGGCTGGTGCCCCCAGGCCTCTGGGGCTCC
AGGCACAACGAACGCCGCTTCCTCAGGAACACCAAGAAGTTCATCTCCCTGGGGAAGCAT
GCCAAGCTCTCGCTGCAGGAGCTGACGTGGAAGATGAGCGTGCGGGACTGCGCTTGGCTG
CGCAGGAGCCCAGGGGTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATC
CTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTC
TTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTC
TGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTGAAGAGGGTGCAGCTGCGGGAG
CTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGA
CTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTG
GGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGTCTCACCTCGAGGGTGAAGGCA
CTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTG
CTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAG
GACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTGACGGGCGCGTACGACACCATC
CCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGC
GTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAG
AGCCACGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTG
CAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGAGCTCCTCCCTGAATGAG
GCCAGCAGTGGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGCATC
AGGGGCAAGTCCTACGTCCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTG
CTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGGGATTCGGCGGGAC
GGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGCG
AAAACCTTCCTCAGGACCCTGGTCCGAGGTGTCCCTGAGTATGGCTGCGTGGTGAACTTG
CGGAAGACAGTGGTGAACTTCCCTGTAGAAGACGAGGCCCTGGGTGGCACGGCTTTTGTT
CAGATGCCGGCCCACGGCCTATTCCCCTGGTGCGGCCTGCTGCTGGATACCCGGACCCTG
GAGGTGCAGAGCGACTACTCCAGCTATGCCCGGACCTCCATCAGAGCCAGTCTCACCTTC
AACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTG
AAGTGTCACAGCCTGTTTCTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACCAAC
ATCTACAAGATCCTCCTGCTGCAGGCGTACAGGTTTCACGCATGTGTGCTGCAGCTCCCA
TTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTCCTGCGCGTCATCTCTGACACGGCC
TCCCTCTGCTACTCCATCCTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAGGGC
GCCGCCGGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTGTGCCACCAAGCATTCCTGCTC
AAGCTGACTCGACACCGTGTCACCTACGTGCCACTCCTGGGGTCACTCAGGACAGCCCAG
ACGCAGCTGAGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCCAAC
CCGGCACTGCCCTCAGACTTCAAGACCATCCTGGACTGA
Protein Properties
Number of Residues 1132
Molecular Weight 120046.48
Theoretical pI 10.706
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Telomerase reverse transcriptase
MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPW
DARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVR
SYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGA
ATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRGGSASRSLPLPKRPRR
GAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRL
VETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVT
PAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGS
RHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEI
LAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKA
LFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTI
PQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHL
QETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTL
LCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTF
NRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLP
FHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLL
KLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD
GenBank ID Protein 109633031
UniProtKB/Swiss-Prot ID O14746
UniProtKB/Swiss-Prot Entry Name TERT_HUMAN
PDB IDs
GenBank Gene ID NM_198253.2
GeneCard ID TERT
GenAtlas ID TERT
HGNC ID HGNC:11730
References
General References
  1. Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B, Watts JD, Hood L, Aebersold R: Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. Nat Methods. 2005 Aug;2(8):591-8. [PubMed:16094384 ]
  2. Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R: Phosphoproteome analysis of the human mitotic spindle. Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5391-6. Epub 2006 Mar 24. [PubMed:16565220 ]
  3. Venteicher AS, Abreu EB, Meng Z, McCann KE, Terns RM, Veenstra TD, Terns MP, Artandi SE: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. Science. 2009 Jan 30;323(5914):644-8. doi: 10.1126/science.1165357. [PubMed:19179534 ]
  4. Haendeler J, Hoffmann J, Brandes RP, Zeiher AM, Dimmeler S: Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707. Mol Cell Biol. 2003 Jul;23(13):4598-610. [PubMed:12808100 ]
  5. Forsythe HL, Jarvis JL, Turner JW, Elmore LW, Holt SE: Stable association of hsp90 and p23, but Not hsp70, with active human telomerase. J Biol Chem. 2001 May 11;276(19):15571-4. Epub 2001 Mar 23. [PubMed:11274138 ]
  6. Meyerson M, Counter CM, Eaton EN, Ellisen LW, Steiner P, Caddle SD, Ziaugra L, Beijersbergen RL, Davidoff MJ, Liu Q, Bacchetti S, Haber DA, Weinberg RA: hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization. Cell. 1997 Aug 22;90(4):785-95. [PubMed:9288757 ]
  7. Nakamura TM, Morin GB, Chapman KB, Weinrich SL, Andrews WH, Lingner J, Harley CB, Cech TR: Telomerase catalytic subunit homologs from fission yeast and human. Science. 1997 Aug 15;277(5328):955-9. [PubMed:9252327 ]
  8. Wick M, Zubov D, Hagen G: Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). Gene. 1999 May 17;232(1):97-106. [PubMed:10333526 ]
  9. Hisatomi H, Ohyashiki K, Ohyashiki JH, Nagao K, Kanamaru T, Hirata H, Hibi N, Tsukada Y: Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene. Neoplasia. 2003 May-Jun;5(3):193-7. [PubMed:12869302 ]
  10. Nagao K, Katsumata K, Aizawa Y, Saito N, Hirata H, Sasaki H, Yamamoto S, Hikiji K, Koiwa T, Hisatomi H: Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines. Oncol Rep. 2004 Jan;11(1):127-31. [PubMed:14654914 ]
  11. Weng NP, Levine BL, June CH, Hodes RJ: Regulated expression of telomerase activity in human T lymphocyte development and activation. J Exp Med. 1996 Jun 1;183(6):2471-9. [PubMed:8676067 ]
  12. Harrington L, Zhou W, McPhail T, Oulton R, Yeung DS, Mar V, Bass MB, Robinson MO: Human telomerase contains evolutionarily conserved catalytic and structural subunits. Genes Dev. 1997 Dec 1;11(23):3109-15. [PubMed:9389643 ]
  13. Beattie TL, Zhou W, Robinson MO, Harrington L: Reconstitution of human telomerase activity in vitro. Curr Biol. 1998 Jan 29;8(3):177-80. [PubMed:9443919 ]
  14. Beattie TL, Zhou W, Robinson MO, Harrington L: Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding. Mol Biol Cell. 2000 Oct;11(10):3329-40. [PubMed:11029039 ]
  15. Song H, Li Y, Chen G, Xing Z, Zhao J, Yokoyama KK, Li T, Zhao M: Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length. Biochem Biophys Res Commun. 2004 Apr 16;316(4):1116-23. [PubMed:15044100 ]
  16. Haendeler J, Hoffmann J, Diehl JF, Vasa M, Spyridopoulos I, Zeiher AM, Dimmeler S: Antioxidants inhibit nuclear export of telomerase reverse transcriptase and delay replicative senescence of endothelial cells. Circ Res. 2004 Apr 2;94(6):768-75. Epub 2004 Feb 12. [PubMed:14963003 ]
  17. Yan P, Benhattar J, Seelentag W, Stehle JC, Bosman FT: Immunohistochemical localization of hTERT protein in human tissues. Histochem Cell Biol. 2004 May;121(5):391-7. Epub 2004 May 7. [PubMed:15138842 ]
  18. Khurts S, Masutomi K, Delgermaa L, Arai K, Oishi N, Mizuno H, Hayashi N, Hahn WC, Murakami S: Nucleolin interacts with telomerase. J Biol Chem. 2004 Dec 3;279(49):51508-15. Epub 2004 Sep 14. [PubMed:15371412 ]
  19. Moriarty TJ, Marie-Egyptienne DT, Autexier C: Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer. Mol Cell Biol. 2004 May;24(9):3720-33. [PubMed:15082768 ]
  20. Kim JH, Park SM, Kang MR, Oh SY, Lee TH, Muller MT, Chung IK: Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT. Genes Dev. 2005 Apr 1;19(7):776-81. [PubMed:15805468 ]
  21. Moriarty TJ, Ward RJ, Taboski MA, Autexier C: An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization. Mol Biol Cell. 2005 Jul;16(7):3152-61. Epub 2005 Apr 27. [PubMed:15857955 ]
  22. Rahman R, Mo L, Cui W: Telomerase with mutated catalytic motifs has dominant negative effects on telomerase activity and inhibits cell growth. Biochem Biophys Res Commun. 2006 Nov 24;350(3):796-802. Epub 2006 Sep 29. [PubMed:17026956 ]
  23. Plunkett FJ, Franzese O, Finney HM, Fletcher JM, Belaramani LL, Salmon M, Dokal I, Webster D, Lawson AD, Akbar AN: The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation. J Immunol. 2007 Jun 15;178(12):7710-9. [PubMed:17548608 ]
  24. Fu D, Collins K: Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation. Mol Cell. 2007 Dec 14;28(5):773-85. [PubMed:18082603 ]
  25. Wyatt HD, Lobb DA, Beattie TL: Characterization of physical and functional anchor site interactions in human telomerase. Mol Cell Biol. 2007 Apr;27(8):3226-40. Epub 2007 Feb 12. [PubMed:17296728 ]
  26. Drosopoulos WC, Prasad VR: The active site residue Valine 867 in human telomerase reverse transcriptase influences nucleotide incorporation and fidelity. Nucleic Acids Res. 2007;35(4):1155-68. Epub 2007 Jan 30. [PubMed:17264120 ]
  27. Jakob S, Schroeder P, Lukosz M, Buchner N, Spyridopoulos I, Altschmied J, Haendeler J: Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase. J Biol Chem. 2008 Nov 28;283(48):33155-61. doi: 10.1074/jbc.M805138200. Epub 2008 Oct 1. [PubMed:18829466 ]
  28. Ram R, Uziel O, Eldan O, Fenig E, Beery E, Lichtenberg S, Nordenberg Y, Lahav M: Ionizing radiation up-regulates telomerase activity in cancer cell lines by post-translational mechanism via ras/phosphatidylinositol 3-kinase/Akt pathway. Clin Cancer Res. 2009 Feb 1;15(3):914-23. doi: 10.1158/1078-0432.CCR-08-0792. [PubMed:19188162 ]
  29. Park JI, Venteicher AS, Hong JY, Choi J, Jun S, Shkreli M, Chang W, Meng Z, Cheung P, Ji H, McLaughlin M, Veenstra TD, Nusse R, McCrea PD, Artandi SE: Telomerase modulates Wnt signalling by association with target gene chromatin. Nature. 2009 Jul 2;460(7251):66-72. doi: 10.1038/nature08137. [PubMed:19571879 ]
  30. Wyatt HD, Tsang AR, Lobb DA, Beattie TL: Human telomerase reverse transcriptase (hTERT) Q169 is essential for telomerase function in vitro and in vivo. PLoS One. 2009 Sep 24;4(9):e7176. doi: 10.1371/journal.pone.0007176. [PubMed:19777057 ]
  31. Cole DK, Rizkallah PJ, Gao F, Watson NI, Boulter JM, Bell JI, Sami M, Gao GF, Jakobsen BK: Crystal structure of HLA-A*2402 complexed with a telomerase peptide. Eur J Immunol. 2006 Jan;36(1):170-9. [PubMed:16323248 ]
  32. Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I: Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005 May-Jun;34(3):257-63. [PubMed:15885610 ]
  33. Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005 Apr 7;352(14):1413-24. [PubMed:15814878 ]
  34. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW: Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. Epub 2005 Oct 24. [PubMed:16247010 ]
  35. Matsubara Y, Murata M, Watanabe K, Saito I, Miyaki K, Omae K, Ishikawa M, Matsushita K, Iwanaga S, Ogawa S, Ikeda Y: Coronary artery disease and a functional polymorphism of hTERT. Biochem Biophys Res Commun. 2006 Sep 22;348(2):669-72. Epub 2006 Jul 28. [PubMed:16890917 ]
  36. Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006 Apr 1;107(7):2680-5. Epub 2005 Dec 6. [PubMed:16332973 ]
  37. Liang J, Yagasaki H, Kamachi Y, Hama A, Matsumoto K, Kato K, Kudo K, Kojima S: Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica. 2006 May;91(5):656-8. Epub 2006 Apr 19. [PubMed:16627250 ]
  38. Xin ZT, Beauchamp AD, Calado RT, Bradford JW, Regal JA, Shenoy A, Liang Y, Lansdorp PM, Young NS, Ly H: Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood. 2007 Jan 15;109(2):524-32. Epub 2006 Sep 21. [PubMed:16990594 ]
  39. Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I: Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4. [PubMed:17785587 ]
  40. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE: Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007 Mar 29;356(13):1317-26. [PubMed:17392301 ]
  41. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK: Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. Epub 2007 Apr 25. [PubMed:17460043 ]
  42. Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A, Bowen D, Schonland SO, Whittle AM, McVerry A, Gilleece M, Dokal I: Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat. 2009 Nov;30(11):1567-73. doi: 10.1002/humu.21115. [PubMed:19760749 ]
  43. Calado RT, Regal JA, Hills M, Yewdell WT, Dalmazzo LF, Zago MA, Lansdorp PM, Hogge D, Chanock SJ, Estey EH, Falcao RP, Young NS: Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci U S A. 2009 Jan 27;106(4):1187-92. doi: 10.1073/pnas.0807057106. Epub 2009 Jan 15. [PubMed:19147845 ]