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Volumn 22, Issue 13, 2008, Pages 1773-1785

Engineered telomere degradation models dyskeratosis congenita

Author keywords

Bone marrow failure; Dyskeratosis congenita; POT1; Shelterin; Telomerase; Telomere

Indexed keywords

PROTEIN; PROTEIN POT1B; SHELTERIN; TELOMERASE;

EID: 46249089163     PISSN: 08909369     EISSN: 15495477     Source Type: Journal    
DOI: 10.1101/gad.1679208     Document Type: Article
Times cited : (98)

References (61)
  • 1
    • 0037480961 scopus 로고    scopus 로고
    • Telomerase is required to slow telomere shortening and extend replicative lifespan of HSC during serial transplantation
    • Allsopp, R.C., Morin, G.B., DePinho, R., Harley, C.B., and Weissman, I.L. 2003. Telomerase is required to slow telomere shortening and extend replicative lifespan of HSC during serial transplantation. Blood 102: 517-520.
    • (2003) Blood , vol.102 , pp. 517-520
    • Allsopp, R.C.1    Morin, G.B.2    DePinho, R.3    Harley, C.B.4    Weissman, I.L.5
  • 6
    • 0035844082 scopus 로고    scopus 로고
    • Pot1, the putative telomere end-binding protein in fission yeast and humans
    • Baumann, P. and Cech, T.R. 2001. Pot1, the putative telomere end-binding protein in fission yeast and humans. Science 292: 1171-1175.
    • (2001) Science , vol.292 , pp. 1171-1175
    • Baumann, P.1    Cech, T.R.2
  • 8
    • 0141887505 scopus 로고    scopus 로고
    • Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes
    • Byers, H.R., Maheshwary, S., Amodeo, D.M., and Dykstra, S.G. 2003. Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes. J. Invest. Dermatol. 121: 813-820.
    • (2003) J. Invest. Dermatol , vol.121 , pp. 813-820
    • Byers, H.R.1    Maheshwary, S.2    Amodeo, D.M.3    Dykstra, S.G.4
  • 9
    • 25444519237 scopus 로고    scopus 로고
    • Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation
    • Cerone, M.A., Ward, R.J., Londono-Vallejo, J.A., and Autexier, C. 2005. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle 4: 585-589.
    • (2005) Cell Cycle , vol.4 , pp. 585-589
    • Cerone, M.A.1    Ward, R.J.2    Londono-Vallejo, J.A.3    Autexier, C.4
  • 10
    • 34147095342 scopus 로고    scopus 로고
    • Protein composition of catalytically active human telomerase from immortal cells
    • Cohen, S., Me, G., Lovrecz, G.O., Bache, N., Robinson, P.J., and Reddel, R.R. 2007. Protein composition of catalytically active human telomerase from immortal cells. Science 315: 1850-1853.
    • (2007) Science , vol.315 , pp. 1850-1853
    • Cohen, S.1    Me, G.2    Lovrecz, G.O.3    Bache, N.4    Robinson, P.J.5    Reddel, R.R.6
  • 11
    • 32544443342 scopus 로고    scopus 로고
    • Telomere length homeostasis requires that telomerase levels are limiting
    • Cristofari, G. and Lingner, J. 2006. Telomere length homeostasis requires that telomerase levels are limiting. EMBO J. 25: 565-574.
    • (2006) EMBO J , vol.25 , pp. 565-574
    • Cristofari, G.1    Lingner, J.2
  • 13
    • 24944460598 scopus 로고    scopus 로고
    • Shelterin: The protein complex that shapes and safeguards human telomeres
    • de Lange, T. 2005. Shelterin: The protein complex that shapes and safeguards human telomeres. Genes & Dev. 19: 2100-2110.
    • (2005) Genes & Dev , vol.19 , pp. 2100-2110
    • de Lange, T.1
  • 14
    • 33745643753 scopus 로고    scopus 로고
    • Telomerase deficiency and human disease
    • eds. T. de Lange et al, pp, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
    • Dokal, I. and Vulliamy, T. 2005. Telomerase deficiency and human disease. In Telomeres (eds. T. de Lange et al.), pp. 139-162. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
    • (2005) Telomeres , pp. 139-162
    • Dokal, I.1    Vulliamy, T.2
  • 15
    • 1942437469 scopus 로고    scopus 로고
    • Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice
    • Erdmann, N., Liu, Y., and Harrington, L. 2004. Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice. Proc. Natl. Acad. Sci. 101: 6080-6085.
    • (2004) Proc. Natl. Acad. Sci , vol.101 , pp. 6080-6085
    • Erdmann, N.1    Liu, Y.2    Harrington, L.3
  • 16
    • 0002682539 scopus 로고
    • Comparison of skin color with melanin content
    • Gates, R.R. and Zimmermann, A.A. 1953. Comparison of skin color with melanin content. J. Invest. Dermatol. 21: 339-348.
    • (1953) J. Invest. Dermatol , vol.21 , pp. 339-348
    • Gates, R.R.1    Zimmermann, A.A.2
  • 17
    • 0026648674 scopus 로고
    • Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation
    • Gavrieli, Y., Sherman, Y., and Ben-Sasson, S.A. 1992. Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation. J. Cell Biol. 119: 493-501.
    • (1992) J. Cell Biol , vol.119 , pp. 493-501
    • Gavrieli, Y.1    Sherman, Y.2    Ben-Sasson, S.A.3
  • 18
    • 0023037564 scopus 로고
    • Telomere proteins: Specific recognition and protection of the natural termini of Oxytricha macronuclear DNA
    • Gottschling, D.E. and Zakian, V.A. 1986. Telomere proteins: Specific recognition and protection of the natural termini of Oxytricha macronuclear DNA. Cell 47: 195-205.
    • (1986) Cell , vol.47 , pp. 195-205
    • Gottschling, D.E.1    Zakian, V.A.2
  • 20
    • 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., and Greider, C.W. 2005. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 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
  • 22
    • 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., and Dokal, I. 1998. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 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
  • 23
    • 33745685066 scopus 로고    scopus 로고
    • Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres
    • Hockemeyer, D., Daniels, J.P., Takai, H., and de Lange, T. 2006. Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres. Cell 126: 63-77.
    • (2006) Cell , vol.126 , pp. 63-77
    • Hockemeyer, D.1    Daniels, J.P.2    Takai, H.3    de Lange, T.4
  • 25
    • 11144268164 scopus 로고    scopus 로고
    • Significant role for p16(INK4a) in p53-independent telomere-directed senescence
    • Jacobs, J.J. and de Lange, T. 2004. Significant role for p16(INK4a) in p53-independent telomere-directed senescence. Curr. Biol. 14: 2302-2308.
    • (2004) Curr. Biol , vol.14 , pp. 2302-2308
    • Jacobs, J.J.1    de Lange, T.2
  • 26
    • 34548317418 scopus 로고    scopus 로고
    • Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1
    • Lazzerini Denchi, E. and de Lange, T. 2007. Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1. Nature 448: 1068-1071.
    • (2007) Nature , vol.448 , pp. 1068-1071
    • Lazzerini Denchi, E.1    de Lange, T.2
  • 28
    • 0029128798 scopus 로고
    • Telomerase and DNA end replication: No longer a lagging strand problem?
    • Lingner, J., Cooper, J.P., and Cech, T.R. 1995. Telomerase and DNA end replication: No longer a lagging strand problem? Science 269: 1533-1534.
    • (1995) Science , vol.269 , pp. 1533-1534
    • Lingner, J.1    Cooper, J.P.2    Cech, T.R.3
  • 30
    • 0038451396 scopus 로고    scopus 로고
    • POT1 as a terminal transducer of TRF1 telomere length control
    • Loayza, D. and de Lange, T. 2003. POT1 as a terminal transducer of TRF1 telomere length control. Nature 424: 1013-1018.
    • (2003) Nature , vol.424 , pp. 1013-1018
    • Loayza, D.1    de Lange, T.2
  • 31
    • 0031000884 scopus 로고    scopus 로고
    • Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening
    • Makarov, V.L., Hirose, Y., and Langmore, J.P. 1997. Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening. Cell 88: 657-666.
    • (1997) Cell , vol.88 , pp. 657-666
    • Makarov, V.L.1    Hirose, Y.2    Langmore, J.P.3
  • 32
    • 0036682516 scopus 로고    scopus 로고
    • EXO1-dependent single-stranded DNA at telomeres activates subsets of DNA damage and spindle checkpoint pathways in budding yeast yku70Δ mutants
    • Maringele, L. and Lydall, D. 2002. EXO1-dependent single-stranded DNA at telomeres activates subsets of DNA damage and spindle checkpoint pathways in budding yeast yku70Δ mutants. Genes & Dev. 16: 1919-1933.
    • (2002) Genes & Dev , vol.16 , pp. 1919-1933
    • Maringele, L.1    Lydall, D.2
  • 33
    • 10244222239 scopus 로고    scopus 로고
    • Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
    • Marrone, A., Stevens, D., Vulliamy, T., Dokal, I., and Mason, P.J. 2004. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 104: 3936-3942.
    • (2004) Blood , vol.104 , pp. 3936-3942
    • Marrone, A.1    Stevens, D.2    Vulliamy, T.3    Dokal, I.4    Mason, P.J.5
  • 34
    • 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., and Dokal, I. 2007. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 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
  • 35
    • 0033843417 scopus 로고    scopus 로고
    • Telomere dynamics in cells with introduced telomerase: A rapid assay for telomerase activity on telomeres
    • McChesney, P.A., Aisner, D.L., Frank, B.C., Wright, W.E., and Shay, J.W. 2000. Telomere dynamics in cells with introduced telomerase: A rapid assay for telomerase activity on telomeres. Mol. Cell Biol. Res. Commun. 3: 312-318.
    • (2000) Mol. Cell Biol. Res. Commun , vol.3 , pp. 312-318
    • McChesney, P.A.1    Aisner, D.L.2    Frank, B.C.3    Wright, W.E.4    Shay, J.W.5
  • 36
    • 33745148277 scopus 로고    scopus 로고
    • How a single protein complex accommodates many different H/ACA RNAs
    • Meier, U.T. 2006. How a single protein complex accommodates many different H/ACA RNAs. Trends Biochem. Sci. 31: 311-315.
    • (2006) Trends Biochem. Sci , vol.31 , pp. 311-315
    • Meier, U.T.1
  • 37
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • Mitchell, J.R., Wood, E., and Collins, K. 1999. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551-555.
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 38
    • 3242656131 scopus 로고    scopus 로고
    • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
    • Mochizuki, Y., He, J., Kulkarni, S., Bessler, M., and Mason, P.J. 2004. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl. Acad. Sci. 101: 10756-10761.
    • (2004) Proc. Natl. Acad. Sci , vol.101 , pp. 10756-10761
    • Mochizuki, Y.1    He, J.2    Kulkarni, S.3    Bessler, M.4    Mason, P.J.5
  • 40
    • 46249125488 scopus 로고    scopus 로고
    • How shelterin protects mammalian telomeres
    • in press
    • Palm, W. and de Lange, T. 2008. How shelterin protects mammalian telomeres. Annu. Rev. Genet. (in press).
    • (2008) Annu. Rev. Genet
    • Palm, W.1    de Lange, T.2
  • 41
    • 0029040101 scopus 로고
    • Developmental and tissue-specific regulation of mouse telomerase and telomere length
    • Prowse, K.R. and Greider, C.W. 1995. Developmental and tissue-specific regulation of mouse telomerase and telomere length. Proc. Natl. Acad. Sci. 92: 4818-4822.
    • (1995) Proc. Natl. Acad. Sci , vol.92 , pp. 4818-4822
    • Prowse, K.R.1    Greider, C.W.2
  • 43
    • 0034681457 scopus 로고    scopus 로고
    • Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery
    • Rudolph, K.L., Chang, S., Millard, M., Schreiber-Agus, N., and DePinho, R.A. 2000. Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery. Science 287: 1253-1258.
    • (2000) Science , vol.287 , pp. 1253-1258
    • Rudolph, K.L.1    Chang, S.2    Millard, M.3    Schreiber-Agus, N.4    DePinho, R.A.5
  • 46
    • 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., and Alter, B.P. 2008. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am. J. Hum. Genet. 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
  • 47
    • 0037102234 scopus 로고    scopus 로고
    • Different telomere damage signaling pathways in human and mouse cells
    • Smogorzewska, A. and de Lange, T. 2002. Different telomere damage signaling pathways in human and mouse cells. EMBO J. 21: 4338-4348.
    • (2002) EMBO J , vol.21 , pp. 4338-4348
    • Smogorzewska, A.1    de Lange, T.2
  • 49
    • 0032489012 scopus 로고    scopus 로고
    • TRF2 protects human telomeres from end-to-end fusions
    • van Steensel, B., Smogorzewska, A., and de Lange, T. 1998. TRF2 protects human telomeres from end-to-end fusions. Cell 92: 401-413.
    • (1998) Cell , vol.92 , pp. 401-413
    • van Steensel, B.1    Smogorzewska, A.2    de Lange, T.3
  • 51
    • 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., and Dokal, I. 2001. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 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
  • 52
    • 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., and Dokal, I. 2004. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat. Genet. 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
  • 53
    • 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., and Dokal, I. 2007. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum. Mol. Genet. 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
  • 55
    • 33751072682 scopus 로고    scopus 로고
    • Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita
    • Wong, J.M. and Collins, K. 2006. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes & Dev. 20: 2848-2858.
    • (2006) Genes & Dev , vol.20 , pp. 2848-2858
    • Wong, J.M.1    Collins, K.2
  • 56
    • 5044251217 scopus 로고    scopus 로고
    • Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita
    • Wong, J.M., Kyasa, M.J., Hutchins, L., and Collins, K. 2004. Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. Hum. Genet. 115: 448-455.
    • (2004) Hum. Genet , vol.115 , pp. 448-455
    • Wong, J.M.1    Kyasa, M.J.2    Hutchins, L.3    Collins, K.4
  • 57
  • 59
    • 0041592752 scopus 로고    scopus 로고
    • Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
    • Yamaguchi, H., Baerlocher, G.M., Lansdorp, P.M., Chanock, S.J., Nunez, O., Sloand, E., and Young, N.S. 2003. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102: 916-918.
    • (2003) Blood , vol.102 , pp. 916-918
    • Yamaguchi, H.1    Baerlocher, G.M.2    Lansdorp, P.M.3    Chanock, S.J.4    Nunez, O.5    Sloand, E.6    Young, N.S.7
  • 61
    • 0033616762 scopus 로고    scopus 로고
    • Telomerase extends the lifespan of virus-transformed human cells without net telomere lengthening
    • Zhu, J., Wang, H., Bishop, J.M., and Blackburn, E.H. 1999. Telomerase extends the lifespan of virus-transformed human cells without net telomere lengthening. Proc. Natl. Acad. Sci. 96: 3723-3728.
    • (1999) Proc. Natl. Acad. Sci , vol.96 , pp. 3723-3728
    • Zhu, J.1    Wang, H.2    Bishop, J.M.3    Blackburn, E.H.4


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