Dyskeratosis congenita as a disorder of telomere maintenance

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 730, Issue 1-2, 2012, Pages 43-51

  Nelson, Nya D ^a   Bertuch, Alison A ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Dyskeratosis congenita; Telomerase; Telomere

Indexed keywords

DYSKERIN; PSEUDOURIDINE SYNTHASE; RIBONUCLEOPROTEIN; RIBOSOME RNA; SYNTHETASE; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERIC REPEAT BINDING FACTOR 1; UNCLASSIFIED DRUG;

APOLLO GENE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; C16ORF57 GENE; CARBOXY TERMINAL SEQUENCE; CELL PROLIFERATION; CHROMOSOMAL INSTABILITY; CLINICAL FEATURE; COILED BODY; CONSANGUINITY; DKC1 GENE; DYSKERATOSIS CONGENITA; GENE; GENE MUTATION; GENE STRUCTURE; GENETIC DISORDER; HOYERAAL HREIDARSSON SYNDROME; HUMAN; LEUKOCYTE; LEUKOCYTE TELOMERE; NEUTROPENIA; NHP2 GENE; NONHUMAN; NOP10 GENE; PATHOGENESIS; POIKILODERMA; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN PROTEIN INTERACTION; PROTEIN SECONDARY STRUCTURE; RECESSIVE INHERITANCE; REVESZ SYNDROME; REVIEW; SKIN FIBROBLAST; TCAB1 GENE; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; TINF2 GENE; X CHROMOSOME LINKAGE;

CELL CYCLE PROTEINS; DYSKERATOSIS CONGENITA; GENES, DOMINANT; GENES, X-LINKED; HUMANS; MUTATION; NUCLEAR PROTEINS; TELOMERASE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; TELOMERE-BINDING PROTEINS;

EID: 84855486059     PISSN: 00275107     EISSN: 09218262     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2011.06.008     Document Type: Review

References (105)

1. Zinsser F. Atrophia cutis reticularis cum pigmentations, dystrophia unguium et leukoplakis oris (poikioodemia atrophicans vascularis Jacobi). Ikonogr. Dermatol. 1910, 5:219-223.
2. Walne A.J., Dokal I. Dyskeratosis congenita: a historical perspective. Mech. Ageing Dev. 2008, 129:48-59.
3. 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.
4. 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. 2011, 46:98-104.
5. Knight S., Vulliamy T., Copplestone A., Gluckman E., Mason P., Dokal I. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br. J. Haematol. 1998, 103:990-996.
6. Savage S.A., Alter B.P. Dyskeratosis congenita. Hematol. Oncol. Clin. North Am. 2009, 23:215-231.
7. Alter B.P., Giri N., Savage S.A., Rosenberg P.S. Cancer in dyskeratosis congenita. Blood 2009, 113:6549-6557.
8. Armanios M.Y., Chen J.J., Cogan J.D., Alder J.K., Ingersoll R.G., Markin C., Lawson W.E., Xie M., Vulto I., Phillips J.A., Lansdorp P.M., Greider C.W., Loyd J.E. Telomerase mutations in families with idiopathic pulmonary fibrosis. N. Engl. J. Med. 2007, 356:1317-1326.
9. Alder J.K., Chen J.J., Lancaster L., Danoff S., Su S.C., Cogan J.D., Vulto I., Xie M., Qi X., Tuder R.M., Phillips J.A., Lansdorp P.M., Loyd J.E., Armanios M.Y. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:13051-13056.
10. Cronkhite J.T., Xing C., Raghu G., Chin K.M., Torres F., Rosenblatt R.L., Garcia C.K. Telomere shortening in familial and sporadic pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 2008, 178:729-737.
11. Tsakiri K.D., Cronkhite J.T., Kuan P.J., Xing C., Raghu G., Weissler J.C., Rosenblatt R.L., Shay J.W., Garcia C.K. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:7552-7557.
12. Savage S.A., Bertuch A.A. The genetics and clinical manifestations of telomere biology disorders. Genet. Med. 2010, 12:753-764.
13. Dokal I., Vulliamy T., Mason P., Bessler M. Clinical utility gene card for: dyskeratosis congenita. Eur. J. Hum. Genet. 2011.
14. Revesz T., Fletcher S., al-Gazali L.I., DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?. J. Med. Genet. 1992, 29:673-675.
15. Kajtar P., Mehes K. Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am. J. Med. Genet. 1994, 49:374-377.
16. 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.
17. Hoyeraal H.M., Lamvik J., Moe P.J. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr. Scand. 1970, 59:185-191.
18. Pearson T., Curtis F., Al-Eyadhy A., Al-Tamemi S., Mazer B., Dror Y., Abish S., Bale S., Compton J., Ray R., Scott P., Der Kaloustian V.M. An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. Am. J. Med. Genet. A 2008, 146A:2159-2161.
19. Yaghmai R., Kimyai-Asadi A., Rostamiani K., Heiss N.S., Poustka A., Eyaid W., Bodurtha J., Nousari H.C., Hamosh A., Metzenberg A. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J. Pediatr. 2000, 136:390-393.
20. 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.
21. Mitchell J.R., Wood E., Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999, 402:551-555.
22. 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.
23. Armanios M., Chen J.L., Chang Y.P., Brodsky R.A., Hawkins A., Griffin C.A., Eshleman J.R., Cohen A.R., Chakravarti A., Hamosh A., Greider C.W. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:15960-15964.
24. Vulliamy T.J., Walne A., Baskaradas A., Mason P.J., Marrone A., Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol. Dis. 2005, 34:257-263.
25. 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.
26. Vulliamy T., Beswick R., Kirwan M., Marrone A., Digweed M., Walne A., Dokal I. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:8073-8078.
27. 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.
28. Zhong F., Savage S.A., Shkreli M., Giri N., Jessop L., Myers T., Chen R., Alter B.P., Artandi S.E. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011, 25:11-16.
29. Alter B.P., Baerlocher G.M., Savage S.A., Chanock S.J., Weksler B.B., Willner J.P., Peters J.A., Giri N., Lansdorp P.M. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007, 110:1439-1447.
30. Walne A.J., Vulliamy T., Beswick R., Kirwan M., Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum. Mol. Genet. 2010, 19:4453-4461.
31. Baerlocher G.M., Lansdorp P.M. Telomere length measurements in leukocyte subsets by automated multicolor flow-FISH. Cytometry A 2003, 55:1-6.
32. Westin E.R., Chavez E., Lee K.M., Gourronc F.A., Riley S., Lansdorp P.M., Goldman F.D., Klingelhutz A.J. Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. Aging Cell 2007, 6:383-394.
33. Gadalla S.M., Cawthon R., Giri N., Alter B.P., Savage S.A. Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. Aging (Albany NY) 2010, 2:867-874.
34. 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.
35. Vulliamy T.J., Marrone A., Knight S.W., Walne A., Mason P.J., Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006, 107:2680-2685.
36. Blasco M.A., Lee H.W., Hande M.P., Samper E., Lansdorp P.M., DePinho R.A., Greider C.W. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 1997, 91:25-34.
37. Lee H.W., Blasco M.A., Gottlieb G.J., Horner J.W., Greider C.W., DePinho R.A. Essential role of mouse telomerase in highly proliferative organs. Nature 1998, 392:569-574.
38. Rudolph K.L., Chang S., Lee H.W., Blasco M., Gottlieb G.J., Greider C., DePinho R.A. Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 1999, 96:701-712.
39. Lundblad V., Szostak J.W. A mutant with a defect in telomere elongation leads to senescence in yeast. Cell 1989, 57:633-643.
40. Allsopp R.C., Vaziri H., Patterson C., Goldstein S., Younglai E.V., Futcher A.B., Greider C.W., Harley C.B. Telomere length predicts replicative capacity of human fibroblasts. Proc. Natl. Acad. Sci. U.S.A. 1992, 89:10114-10118.
41. Vaziri H., Dragowska W., Allsopp R.C., Thomas T.E., Harley C.B., Lansdorp P.M. Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age. Proc. Natl. Acad. Sci. U.S.A. 1994, 91:9857-9860.
42. Takai H., Smogorzewska A., de Lange T. DNA damage foci at dysfunctional telomeres. Curr. Biol. 2003, 13:1549-1556.
43. d'Adda di Fagagna F., Reaper P.M., Clay-Farrace L., Fiegler H., Carr P., Von Zglinicki T., Saretzki G., Carter N.P., Jackson S.P. A DNA damage checkpoint response in telomere-initiated senescence. Nature 2003, 426:194-198.
44. Herbig U., Jobling W.A., Chen B.P., Chen D.J., Sedivy J.M. Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53, and p21(CIP1), but not p16(INK4a). Mol. Cell 2004, 14:501-513.
45. Allsopp R.C., Morin G.B., DePinho R., Harley C.B., Weissman I.L. Telomerase is required to slow telomere shortening and extend replicative lifespan of HSCs during serial transplantation. Blood 2003, 102:517-520.
46. Parry E.M., Alder J.K., Lee S.S., Phillips J.A., Loyd J.E., Duggal P., Armanios M. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. J. Med. Genet. 2011, 48:327-333.
47. Knight S.W., Vulliamy T.J., Heiss N.S., Matthijs G., Devriendt K., Connor J.M., D'Urso M., Poustka A., Mason P.J., Dokal I. 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J. Med. Genet. 1998, 35:993-996.
48. Womer R., Clark J.E., Wood P., Sabio H., Kelly T.E. Dyskeratosis congenita: two examples of this multisystem disorder. Pediatrics 1983, 71:603-609.
49. Devriendt K., Matthijs G., Legius E., Schollen E., Blockmans D., van Geet C., Degreef H., Cassiman J.J., Fryns J.P. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am. J. Hum. Genet. 1997, 60:581-587.
50. Knight S.W., Heiss N.S., Vulliamy T.J., Aalfs C.M., McMahon C., Richmond P., Jones A., Hennekam R.C., Poustka A., Mason P.J., Dokal I. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br. J. Haematol. 1999, 107:335-339.
51. Sznajer Y., Baumann C., David A., Journel H., Lacombe D., Perel Y., Blouin P., Segura J.F., Cezard J.P., Peuchmaur M., Vulliamy T., Dokal I., Verloes A. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur. J. Pediatr. 2003, 162:863-867.
52. Cohen S.B., Graham M.E., Lovrecz G.O., Bache N., Robinson P.J., Reddel R.R. Protein composition of catalytically active human telomerase from immortal cells. Science 2007, 315:1850-1853.
53. Vulliamy T.J., Knight S.W., Mason P.J., Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol. Dis. 2001, 27:353-357.
54. Wong J.M., Kyasa M.J., Hutchins L., Collins K. Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. Hum. Genet. 2004, 115:448-455.
55. Wong J.M., Collins K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev. 2006, 20:2848-2858.
56. Kiss T., Fayet-Lebaron E., Jady B.E. Box H/ACA small ribonucleoproteins. Mol. Cell 2010, 37:597-606.
57. Ruggero D., Grisendi S., Piazza F., Rego E., Mari F., Rao P.H., Cordon-Cardo C., Pandolfi P.P. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003, 299:259-262.
58. Yoon A., Peng G., Brandenburger Y., Zollo O., Xu W., Rego E., Ruggero D. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 2006, 312:902-906.
59. Gu B.W., Bessler M., Mason P.J. A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:10173-10178.
60. J.J. Chen, The Telomerase Database, (last accessed June 15, 2011). http://telomerase.asu.edu/.
61. Mochizuki Y., He J., Kulkarni S., Bessler M., Mason P.J. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:10756-10761.
62. Li L., Ye K. Crystal structure of an H/ACA box ribonucleoprotein particle. Nature 2006, 443:302-307.
63. Trahan C., Martel C., Dragon F. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. Hum. Mol. Genet. 2010, 19:825-836.
64. Grozdanov P.N., Fernandez-Fuentes N., Fiser A., Meier U.T. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. Hum. Mol. Genet. 2009, 18:4546-4551.
65. Ashbridge B., Orte A., Yeoman J.A., Kirwan M., Vulliamy T., Dokal I., Klenerman D., Balasubramanian S. Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. Biochemistry 2009, 48:10858-10865.
66. Walne A.J., Vulliamy T., Beswick R., Kirwan M., Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008, 112:3594-3600.
67. Palm W., de Lange T. How shelterin protects mammalian telomeres. Annu. Rev. Genet. 2008, 42:301-334.
68. Ye J.Z., de Lange T. TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex. Nat. Genet. 2004, 36:618-623.
69. Abreu E., Aritonovska E., Reichenbach P., Cristofari G., Culp B., Terns R.M., Lingner J., Terns M.P. TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo. Mol. Cell Biol. 2010, 30:2971-2982.
70. Canudas S., Houghtaling B.R., Kim J.Y., Dynek J.N., Chang W.G., Smith S. Protein requirements for sister telomere association in human cells. EMBO J. 2007, 26:4867-4878.
71. Canudas S., Smith S. Differential regulation of telomere and centromere cohesion by the Scc3 homologues SA1 and SA2, respectively, in human cells. J. Cell Biol. 2009, 187:165-173.
72. Kaminker P.G., Kim S.H., Desprez P.Y., Campisi J. A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix. Cell Cycle 2009, 8:931-939.
73. Yang D., He Q., Kim H., Ma W., Songyang Z. TIN2 dyskeratosis congenital missense mutants are defective in association with telomerase. J. Biol. Chem. 2011.
74. Kim S.H., Kaminker P., Campisi J. TIN2, a new regulator of telomere length in human cells. Nat. Genet. 1999, 23:405-412.
75. Ye J.Z., Donigian J.R., van Overbeek M., Loayza D., Luo Y., Krutchinsky A.N., Chait B.T., de Lange T. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. J. Biol. Chem. 2004, 279:47264-47271.
76. Houghtaling B.R., Cuttonaro L., Chang W., Smith S. A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2. Curr. Biol. 2004, 14:1621-1631.
77. Sasa G., Ribes-Zamora A., Nelson N., Bertuch A. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin. Genet. 2011.
78. Savage S.A., Giri N., Jessop L., Pike K., Plona T., Burdett L., Alter B.P. Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. J. Med. Genet. 2011, 48:285-288.
79. 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.
80. Yamaguchi H., Calado R.T., Ly H., Kajigaya S., Baerlocher G.M., Chanock S.J., Lansdorp P.M., Young N.S. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N. Engl. J. Med. 2005, 352:1413-1424.
81. Vulliamy T., Marrone A., Dokal I., Mason P.J. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002, 359:2168-2170.
82. Field J.J., Mason P.J., An P., Kasai Y., McLellan M., Jaeger S., Barnes Y.J., King A.A., Bessler M., Wilson D.B. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J. Pediatr. Hematol. Oncol. 2006, 28:450-453.
83. Calado R.T., Regal J.A., Kleiner D.E., Schrump D.S., Peterson N.R., Pons V., Chanock S.J., Lansdorp P.M., Young N.S. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One 2009, 4:e7926.
84. Errington T.M., Fu D., Wong J.M., Collins K. Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference. Mol. Cell Biol. 2008, 28:6510-6520.
85. Robart A.R., Collins K. Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. J. Biol. Chem. 2010, 285:4375-4386.
86. Marrone A., Stevens D., Vulliamy T., Dokal I., Mason P.J. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004, 104:3936-3942.
87. Hathcock K.S., Hemann M.T., Opperman K.K., Strong M.A., Greider C.W., Hodes R.J. Haploinsufficiency of mTR results in defects in telomere elongation. Proc. Natl. Acad. Sci. U.S.A. 2002, 99:3591-3596.
88. 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.
89. Hills M., Lansdorp P.M. Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies. Ann. N.Y. Acad. Sci. 2009, 1176:178-190.
90. Calado R.T., Regal J.A., Hills M., Yewdell W.T., Dalmazzo L.F., Zago M.A., Lansdorp P.M., Hogge D., Chanock S.J., Estey E.H., Falcao R.P., Young N.S. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:1187-1192.
91. Beattie T.L., Zhou W., Robinson M.O., Harrington L. Functional multimerization of the human telomerase reverse transcriptase. Mol. Cell Biol. 2001, 21:6151-6160.
92. Moriarty T.J., Huard S., Dupuis S., Autexier C. Functional multimerization of human telomerase requires an RNA interaction domain in the N terminus of the catalytic subunit. Mol. Cell Biol. 2002, 22:1253-1265.
93. Huard S., Moriarty T.J., Autexier C. The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity. Nucleic Acids Res. 2003, 31:4059-4070.
94. Sealey D.C., Zheng L., Taboski M.A., Cruickshank J., Ikura M., Harrington L.A. The N-terminus of hTERT contains a DNA-binding domain and is required for telomerase activity and cellular immortalization. Nucleic Acids Res. 2010, 38:2019-2035.
95. Xin Z.T., Beauchamp A.D., Calado R.T., Bradford J.W., Regal J.A., Shenoy A., Liang Y., Lansdorp P.M., Young N.S., Ly H. Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood 2007, 109:524-532.
96. Du H.Y., Pumbo E., Manley P., Field J.J., Bayliss S.J., Wilson D.B., Mason P.J., Bessler M. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 2008, 111:1128-1130.
97. Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E. A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. Science 2009, 323:644-648.
98. Tycowski K.T., Shu M.D., Kukoyi A., Steitz J.A. A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles. Mol Cell 2009, 34:47-57.
99. Volpi L., Roversi G., Colombo E.A., Leijsten N., Concolino D., Calabria A., Mencarelli M.A., Fimiani M., Macciardi F., Pfundt R., Schoenmakers E.F., Larizza L. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am. J. Hum. Genet. 2010, 86:72-76.
100. Touzot F., Callebaut I., Soulier J., Gaillard L., Azerrad C., Durandy A., Fischer A., de Villartay J.P., Revy P. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:10097-10102.
101. Ye J., Lenain C., Bauwens S., Rizzo A., Saint-Leger A., Poulet A., Benarroch D., Magdinier F., Morere J., Amiard S., Verhoeyen E., Britton S., Calsou P., Salles B., Bizard A., Nadal M., Salvati E., Sabatier L., Wu Y., Biroccio A., Londono-Vallejo A., Giraud-Panis M.J., Gilson E. TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage. Cell 2010, 142:230-242.
102. Wu P., van Overbeek M., Rooney S., de Lange T. Apollo contributes to G overhang maintenance and protects leading-end telomeres. Mol. Cell 2010, 39:606-617.
103. Lam Y.C., Akhter S., Gu P., Ye J., Poulet A., Giraud-Panis M.J., Bailey S.M., Gilson E., Legerski R.J., Chang S. SNMIB/Apollo protects leading-strand telomeres against NHEJ-mediated repair. EMBO J. 2010, 29:2230-2241.
104. Lamm N., Ordan E., Shponkin R., Richler C., Aker M., Tzfati Y. Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. PLoS One 2009, 4:e5666.
105. Podlevsky J.D., Bley C.J., Omana R.V., Qi X., Chen J.J. The telomerase database. Nucleic Acids Res. 2008, 36:D339-D343.