메뉴 건너뛰기




Volumn 33, Issue , 2015, Pages 1-9

The short and long telomere syndromes: Paired paradigms for molecular medicine

Author keywords

[No Author keywords available]

Indexed keywords

AGE; AGING; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME SIZE; DISEASE ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC MODEL; GENETIC PREDISPOSITION; HUMAN; HUMAN GENETICS; LONG TELOMERE SYNDROME; MALIGNANT NEOPLASTIC DISEASE; MELANOMA; MOLECULAR CLOCK; MOLECULAR MEDICINE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SENESCENCE; SHORT TELOMERE SYNDROME; TETRAHYMENA THERMOPHILA; TISSUE METABOLISM; GENETICS; MUTATION; NEOPLASM; PATHOLOGY; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING;

EID: 84938086280     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2015.06.004     Document Type: Review
Times cited : (93)

References (92)
  • 1
    • 0017833637 scopus 로고
    • A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena
    • Blackburn E.H., Gall J.G. A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena. J Mol Biol 1978, 120:33-53.
    • (1978) J Mol Biol , vol.120 , pp. 33-53
    • Blackburn, E.H.1    Gall, J.G.2
  • 2
    • 0022402513 scopus 로고
    • Identification of a specific telomere terminal transferase activity in Tetrahymena extracts
    • Greider C.W., Blackburn E.H. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985, 43:405-413.
    • (1985) Cell , vol.43 , pp. 405-413
    • Greider, C.W.1    Blackburn, E.H.2
  • 3
    • 33749534161 scopus 로고    scopus 로고
    • Telomeres and telomerase: the path from maize Tetrahymena and yeast to human cancer and aging
    • Blackburn E.H., Greider C.W., Szostak J.W. Telomeres and telomerase: the path from maize Tetrahymena and yeast to human cancer and aging. Nat Med 2006, 12:1133-1138.
    • (2006) Nat Med , vol.12 , pp. 1133-1138
    • Blackburn, E.H.1    Greider, C.W.2    Szostak, J.W.3
  • 4
    • 84874611617 scopus 로고    scopus 로고
    • Telomeres and age-related disease: how telomere biology informs clinical paradigms
    • Armanios M. Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest 2013, 123:996-1002.
    • (2013) J Clin Invest , vol.123 , pp. 996-1002
    • Armanios, M.1
  • 8
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley C.B., Futcher A.B., Greider C.W. Telomeres shorten during ageing of human fibroblasts. Nature 1990, 345:458-460.
    • (1990) Nature , vol.345 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 10
    • 0034456493 scopus 로고    scopus 로고
    • Cellular responses to telomere shortening: cellular senescence as a tumor suppressor mechanism
    • Greider C.W. Cellular responses to telomere shortening: cellular senescence as a tumor suppressor mechanism. Harvey Lect 2000, 96:33-50.
    • (2000) Harvey Lect , vol.96 , pp. 33-50
    • Greider, C.W.1
  • 11
    • 0023663881 scopus 로고
    • The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity
    • Greider C.W., Blackburn E.H. The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity. Cell 1987, 51:887-898.
    • (1987) Cell , vol.51 , pp. 887-898
    • Greider, C.W.1    Blackburn, E.H.2
  • 12
    • 0024978857 scopus 로고
    • A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis
    • Greider C.W., Blackburn E.H. A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis. Nature 1989, 337:331-337.
    • (1989) Nature , vol.337 , pp. 331-337
    • Greider, C.W.1    Blackburn, E.H.2
  • 18
    • 71149086939 scopus 로고    scopus 로고
    • Short telomeres are sufficient to cause the degenerative defects associated with aging
    • Armanios M., Alder J.K., Parry E.M., Karim B., Strong M.A., Greider C.W. Short telomeres are sufficient to cause the degenerative defects associated with aging. Am J Hum Genet 2009, 85:823-832.
    • (2009) Am J Hum Genet , vol.85 , pp. 823-832
    • Armanios, M.1    Alder, J.K.2    Parry, E.M.3    Karim, B.4    Strong, M.A.5    Greider, C.W.6
  • 19
    • 34250647098 scopus 로고    scopus 로고
    • Telomerase RNA levels limit the telomere length equilibrium
    • Greider C.W. Telomerase RNA levels limit the telomere length equilibrium. Cold Spring Harb Symp Quant Biol 2006, 71:225-229.
    • (2006) Cold Spring Harb Symp Quant Biol , vol.71 , pp. 225-229
    • Greider, C.W.1
  • 20
    • 2042429168 scopus 로고    scopus 로고
    • Regulation of telomerase by telomeric proteins
    • Smogorzewska A., de Lange T. Regulation of telomerase by telomeric proteins. Annu Rev Biochem 2004, 73:177-208.
    • (2004) Annu Rev Biochem , vol.73 , pp. 177-208
    • Smogorzewska, A.1    de Lange, T.2
  • 23
    • 0030248792 scopus 로고    scopus 로고
    • Telomerase activity in hematopoietic cells is associated with self-renewal potential
    • Morrison S.J., Prowse K.R., Ho P., Weissman I.L. Telomerase activity in hematopoietic cells is associated with self-renewal potential. Immunity 1996, 5:207-216.
    • (1996) Immunity , vol.5 , pp. 207-216
    • Morrison, S.J.1    Prowse, K.R.2    Ho, P.3    Weissman, I.L.4
  • 26
    • 28944455294 scopus 로고    scopus 로고
    • Short telomeres, even in the presence of telomerase, limit tissue renewal capacity
    • Hao L.Y., Armanios M., Strong M.A., Karim B., Feldser D.M., Huso D., Greider C.W. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 2005, 123:1121-1131.
    • (2005) Cell , vol.123 , pp. 1121-1131
    • Hao, L.Y.1    Armanios, M.2    Strong, M.A.3    Karim, B.4    Feldser, D.M.5    Huso, D.6    Greider, C.W.7
  • 28
    • 67650079362 scopus 로고    scopus 로고
    • Syndromes of telomere shortening
    • Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet 2009, 10:45-61.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 45-61
    • Armanios, M.1
  • 29
    • 78651373073 scopus 로고    scopus 로고
    • Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita
    • Dietz A.C., Orchard P.J., Baker K.S., Giller R.H., Savage S.A., Alter B.P., Tolar J. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant 2010, 46:98-104.
    • (2010) Bone Marrow Transplant , vol.46 , pp. 98-104
    • Dietz, A.C.1    Orchard, P.J.2    Baker, K.S.3    Giller, R.H.4    Savage, S.A.5    Alter, B.P.6    Tolar, J.7
  • 31
    • 0037157582 scopus 로고    scopus 로고
    • Association between aplastic anaemia and mutations in telomerase RNA
    • Vulliamy T., Marrone A., Dokal I., Mason P.J. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002, 359:2168-2170.
    • (2002) Lancet , vol.359 , pp. 2168-2170
    • Vulliamy, T.1    Marrone, A.2    Dokal, I.3    Mason, P.J.4
  • 32
    • 0037591410 scopus 로고    scopus 로고
    • Inherited aplastic anaemia
    • Dokal I. Inherited aplastic anaemia. Hematol J 2003, 4:3-9.
    • (2003) Hematol J , vol.4 , pp. 3-9
    • Dokal, I.1
  • 33
  • 36
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss N.S., Knight S.W., Vulliamy T.J., Klauck S.M., Wiemann S., Mason P.J., Poustka A., Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998, 19:32-38.
    • (1998) Nat Genet , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6    Poustka, A.7    Dokal, I.8
  • 37
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • Mitchell J.R., Wood E., Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999, 402:551-555.
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 38
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000, 110:768-779.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 39
    • 34547410832 scopus 로고    scopus 로고
    • Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation
    • de la Fuente J., Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant 2007, 11:584-594.
    • (2007) Pediatr Transplant , vol.11 , pp. 584-594
    • de la Fuente, J.1    Dokal, I.2
  • 40
    • 84938139374 scopus 로고    scopus 로고
    • Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder
    • [epub May 4, 2015]
    • Glousker G., Touzot F., Revy P., Tzfati Y., Savage S.A. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 2015, [epub May 4, 2015].
    • (2015) Br J Haematol
    • Glousker, G.1    Touzot, F.2    Revy, P.3    Tzfati, Y.4    Savage, S.A.5
  • 41
    • 0014755402 scopus 로고
    • Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
    • Hoyeraal H.M., Lamvik J., Moe P.J. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970, 59:185-191.
    • (1970) Acta Paediatr Scand , vol.59 , pp. 185-191
    • Hoyeraal, H.M.1    Lamvik, J.2    Moe, P.J.3
  • 42
    • 0023731072 scopus 로고
    • A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
    • Hreidarsson S., Kristjansson K., Johannesson G., Johannsson J.H. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988, 77:773-775.
    • (1988) Acta Paediatr Scand , vol.77 , pp. 773-775
    • Hreidarsson, S.1    Kristjansson, K.2    Johannesson, G.3    Johannsson, J.H.4
  • 43
    • 84855473741 scopus 로고    scopus 로고
    • Telomerase and idiopathic pulmonary fibrosis
    • Armanios M. Telomerase and idiopathic pulmonary fibrosis. Mutat Res 2012, 730:52-58.
    • (2012) Mutat Res , vol.730 , pp. 52-58
    • Armanios, M.1
  • 56
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T., Marrone A., Goldman F., Dearlove A., Bessler M., Mason P.J., Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001, 413:432-435.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3    Dearlove, A.4    Bessler, M.5    Mason, P.J.6    Dokal, I.7
  • 59
    • 34447307404 scopus 로고    scopus 로고
    • Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
    • Walne A.J., Vulliamy T., Marrone A., Beswick R., Kirwan M., Masunari Y., Al-Qurashi F.H., Aljurf M., Dokal I. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 2007, 16:1619-1629.
    • (2007) Hum Mol Genet , vol.16 , pp. 1619-1629
    • Walne, A.J.1    Vulliamy, T.2    Marrone, A.3    Beswick, R.4    Kirwan, M.5    Masunari, Y.6    Al-Qurashi, F.H.7    Aljurf, M.8    Dokal, I.9
  • 60
    • 40749085700 scopus 로고    scopus 로고
    • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage S.A., Giri N., Baerlocher G.M., Orr N., Lansdorp P.M., Alter B.P. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008, 82:501-509.
    • (2008) Am J Hum Genet , vol.82 , pp. 501-509
    • Savage, S.A.1    Giri, N.2    Baerlocher, G.M.3    Orr, N.4    Lansdorp, P.M.5    Alter, B.P.6
  • 62
    • 84908642873 scopus 로고    scopus 로고
    • Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1
    • Guo Y., Kartawinata M., Li J., Pickett H.A., Teo J., Kilo T., Barbaro P.M., Keating B., Chen Y., Tian L., et al. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood 2014, 124:2767-2774.
    • (2014) Blood , vol.124 , pp. 2767-2774
    • Guo, Y.1    Kartawinata, M.2    Li, J.3    Pickett, H.A.4    Teo, J.5    Kilo, T.6    Barbaro, P.M.7    Keating, B.8    Chen, Y.9    Tian, L.10
  • 64
  • 65
    • 84876410662 scopus 로고    scopus 로고
    • Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    • Walne A.J., Vulliamy T., Kirwan M., Plagnol V., Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013, 92:448-453.
    • (2013) Am J Hum Genet , vol.92 , pp. 448-453
    • Walne, A.J.1    Vulliamy, T.2    Kirwan, M.3    Plagnol, V.4    Dokal, I.5
  • 68
    • 79957590947 scopus 로고    scopus 로고
    • Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
    • Parry E.M., Alder J.K., Qi X., Chen J.J., Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 2011, 117:5607-5611.
    • (2011) Blood , vol.117 , pp. 5607-5611
    • Parry, E.M.1    Alder, J.K.2    Qi, X.3    Chen, J.J.4    Armanios, M.5
  • 69
    • 38849168568 scopus 로고    scopus 로고
    • Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
    • 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, 110:4198-4205.
    • (2007) Blood , vol.110 , pp. 4198-4205
    • Marrone, A.1    Walne, A.2    Tamary, H.3    Masunari, Y.4    Kirwan, M.5    Beswick, R.6    Vulliamy, T.7    Dokal, I.8
  • 70
    • 84924785394 scopus 로고    scopus 로고
    • What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis
    • Stanley S.E., Noth I., Armanios M. What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis. Am J Respir Crit Care Med 2015, 191:608-610.
    • (2015) Am J Respir Crit Care Med , vol.191 , pp. 608-610
    • Stanley, S.E.1    Noth, I.2    Armanios, M.3
  • 71
    • 2442617343 scopus 로고    scopus 로고
    • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    • Vulliamy T., Marrone A., Szydlo R., Walne A., Mason P.J., Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004, 36:447-449.
    • (2004) Nat Genet , vol.36 , pp. 447-449
    • Vulliamy, T.1    Marrone, A.2    Szydlo, R.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 78
    • 84870980867 scopus 로고    scopus 로고
    • The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity
    • Nandakumar J., Bell C.F., Weidenfeld I., Zaug A.J., Leinwand L.A., Cech T.R. The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity. Nature 2012, 492:285-289.
    • (2012) Nature , vol.492 , pp. 285-289
    • Nandakumar, J.1    Bell, C.F.2    Weidenfeld, I.3    Zaug, A.J.4    Leinwand, L.A.5    Cech, T.R.6
  • 79
    • 33846691378 scopus 로고    scopus 로고
    • The POT1-TPP1 telomere complex is a telomerase processivity factor
    • Wang F., Podell E.R., Zaug A.J., Yang Y., Baciu P., Cech T.R., Lei M. The POT1-TPP1 telomere complex is a telomerase processivity factor. Nature 2007, 445:506-510.
    • (2007) Nature , vol.445 , pp. 506-510
    • Wang, F.1    Podell, E.R.2    Zaug, A.J.3    Yang, Y.4    Baciu, P.5    Cech, T.R.6    Lei, M.7
  • 80
    • 3142679378 scopus 로고    scopus 로고
    • POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex
    • Ye J.Z., Hockemeyer D., Krutchinsky A.N., Loayza D., Hooper S.M., Chait B.T., de Lange T. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. Genes Dev 2004, 18:1649-1654.
    • (2004) Genes Dev , vol.18 , pp. 1649-1654
    • Ye, J.Z.1    Hockemeyer, D.2    Krutchinsky, A.N.3    Loayza, D.4    Hooper, S.M.5    Chait, B.T.6    de Lange, T.7
  • 81
    • 84855481090 scopus 로고    scopus 로고
    • Genetics of leukocyte telomere length and its role in atherosclerosis
    • Aviv A. Genetics of leukocyte telomere length and its role in atherosclerosis. Mutat Res 2012, 730:68-74.
    • (2012) Mutat Res , vol.730 , pp. 68-74
    • Aviv, A.1
  • 82
    • 34247581288 scopus 로고    scopus 로고
    • Short telomeres limit tumor progression in vivo by inducing senescence
    • Feldser D.M., Greider C.W. Short telomeres limit tumor progression in vivo by inducing senescence. Cancer Cell 2007, 11:461-469.
    • (2007) Cancer Cell , vol.11 , pp. 461-469
    • Feldser, D.M.1    Greider, C.W.2
  • 83
    • 0034978564 scopus 로고    scopus 로고
    • Telomere dysfunction and evolution of intestinal carcinoma in mice and humans
    • Rudolph K.L., Millard M., Bosenberg M.W., DePinho R.A. Telomere dysfunction and evolution of intestinal carcinoma in mice and humans. Nat Genet 2001, 28:155-159.
    • (2001) Nat Genet , vol.28 , pp. 155-159
    • Rudolph, K.L.1    Millard, M.2    Bosenberg, M.W.3    DePinho, R.A.4
  • 86
    • 0042386051 scopus 로고    scopus 로고
    • Telomere dysfunction and the initiation of genome instability
    • Feldser D.M., Hackett J.A., Greider C.W. Telomere dysfunction and the initiation of genome instability. Nat Rev Cancer 2003, 3:623-627.
    • (2003) Nat Rev Cancer , vol.3 , pp. 623-627
    • Feldser, D.M.1    Hackett, J.A.2    Greider, C.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.