« Previous
Next »
Seminars in Hematology
Volume 43, Issue 3
, Pages 157-166
, July 2006
Dyskeratosis Congenita
References
- . Dyskeratosis congenita: Clinical features and genetic aspects. Report of a family and review of the literature . J Med Genet . 1975;12:339–354
- . Dyskeratosis congenita . Dermatol Clin . 1995;13:33–39
- . Dyskeratosis Congenita (DC) Registry (Identification of new features of DC) . Br J Haematol . 1998;103:990–996
-
.
Telomerase deficiency and human disease
.
In:
de Lange T
, Lundblad V
, Blackburn E
editor. Telomeres. Cold Spring Harbor
. NY: Cold Spring Harbor Laboratory Press; 2006;p. 139–161
- . The Hoyeraal-Hreidarsson syndrome (The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia) . Eur J Pediatr . 1995;154:304–308
- 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
- . Bone marrow transplantation in an infant with Hoyerall-Hreidarrson syndrome associated with severe combined immune deficiency (T+B-NK- SCID) and a novel DKC1 mutation . Br J Haematol . 2002;119:765–768
- . Thrombocytopenia (First symptom in a patient with dyskeratosis congenita) . Pediatrics . 1981;67:898–903
- . Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor . Lancet . 1990;336:751–752
- . Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin . Br J Haematol . 1997;97:309–311
- Unusual complications after bone marrow transplantation for dyskeratosis congenita . Br J Haematol . 1998;103:243–248
- Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient . Pediatr Hematol Oncol . 2003;20:651–656
- . Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome . Oral Oncol . 2004;40:758–759
- . Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita . Bone Marrow Transplant . 2003;31:847–850
- . Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of dyskeratosis congenita . Bone Marrow Transplant . 2003;31:407–410
- . Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts . Cytogenet Cell Genet . 1989;52:186–189
- . Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes . Br J Haematol . 1998;102:1162–1164
- . Mutations in dyskeratosis congenita (Their impact on telomere length and the diversity of clinical presentation) . Blood . 2006;107:2680–2685
- . Assignment of the gene for dyskeratosis congenita to Xq28 . Hum Genet . 1986;72:348–351
- 1.4Mb candidate region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis . J Med Genet . 1998;35:993–996
- X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions . Nat Genet . 1998;19:32–38
- Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice . Oncogene . 2002;21:7740–7744
- . Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita . Hum Mol Genet . 1999;8:2515–2524
- . Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin) (Identification of a nuclear localization signal) . Blood Cells Mol Dis . 1999;25:305–309
- . NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria . J Cell Biol . 1994;127:1505–1514
- . An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules . Mol Cell Biol . 1993;13:4884–4893
- . Novel predicted RNA-binding domains associated with the translation machinery . J Mol Evol . 1999;48:291–302
- . Function and synthesis of small nucleolar RNAs . Curr Opin Cell Biol . 1997;9:337–342
- . Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins . EMBO J . 2004;23:1857–1867
- . The many facets of H/ACA ribonucleoproteins . Chromosoma . 2005;114:1–14
- . Dyskeratosis and ribosomal rebellion . Nat Genet . 1998;19:6–7
- . The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3 . Mol Cell Biol . 1997;17:6175–6183
- . Cbf5p, the putative pseudouridine synthase of H/ACA-type snoRNPs, can form a complex with Gar1p and Nop10p in absence of Nhp2p and box H/ACA snoRNAs . RNA . 2004;10:1704–1712
- . The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPs . Nat Struct Mol Biol . 2005;12:1101–1107
-
Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita
.
Mol Cell
. 2006;21:249–260
- . Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA . Mol Cell Biol . 1999;19:7461–7472
- . Telomeres and telomerase (Their mechanisms of action and the effects of altering their functions) . FEBS Lett . 2005;579:859–862
- . Senescence and immortalization (Role of telomeres and telomerase) . Carcinogenesis . 2005;26:867–874
- . Telomerase RNA structure and function (Implications for dyskeratosis congenita) . Trends Biochem Sci . 2004;29:183–192
- Telomerase catalytic subunit homologs from fission yeast and human . Science . 1997;277:955–959
- . A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end . Mol Cell Biol . 1999;19:567–576
- . Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p . Nucleic Acids Res . 2001;29:598–603
- . Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10 . Mol Cell Biol . 2000;20:9028–9040
- . A telomerase component is defective in the human disease dyskeratosis congenita . Nature . 1999;402:551–555
- . Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita . Blood Cells Mol Dis . 2001;27:353–357
- . Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita . Hum Genet . 2004;115:448–455
- Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines . J Invest Dermatol . 2002;118:193–198
- . Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis . J Clin Pathol . 2003;56:583–586
- Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification . Science . 2003;299:259–262
- . 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
- The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita . Nature . 2001;413:432–435
- . Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC . Nature Genetics . 2004;36:447–449
- . Association between aplastic anaemia and mutations in telomerase RNA . Lancet . 2002;359:2168–2170
- Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA . Lancet . 2003;362:1628–1630
- Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome . Blood . 2003;102:916–918
-
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with paroxysmal nocturnal haemoglobinuria
.
BMC Blood Disorders
. 2004;4:3–7
- Functional characterization of telomerase RNA variants found in patients with hematologic disorders . Blood . 2005;105:2332–2339
- Telomere length in myelodysplastic syndromes . Am J Hematol . 1997;56:266–271
- . A molecular switch underlies a human telomerase disease . Proc Natl Acad Sci U S A . 2002;99:16998–17003
- . Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA . Proc Natl Acad Sci U S A . 2003;100:449–454
-
.
Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs
.
Mol Cell
. 2003;11:1361–1372
- . Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency . Blood . 2004;104:3936–3942
- Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita . Blood . 2005;106:1246–1252
- . Identification of a new RNA.RNA interaction site for human telomerase RNA (hTR) (Structural implications for hTR accumulation and a dyskeratosis congenita point mutation) . Nucleic Acids Res . 2003;31:6509–6515
-
.
Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation
.
Cell Cycle
. 2005;4:585–589
- . Comprehensive structure-function analysis of the core domain of human telomerase RNA . Mol Cell Biol . 2003;23:6849–6856
- The effect of TERC haploinsufficiency on the inheritance of telomere length . Proc Natl Acad Sci U S A . 2005;102:17119–17124
- Telomere shortening and tumor formation by mouse cells lacking telomerase RNA . Cell . 1997;91:25–34
- . Haploinsufficiency of mTR results in defects in telomere elongation . Proc Natl Acad Sci U S A . 2002;99:3591–3596
-
Short telomeres, even in the presence of telomerase, limit tissue renewal capacity
.
Cell
. 2005;16:1121–1131
- . Dyskeratosis congenita . Cell Mol Life Sci . 2003;60:507–511
- Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia . N Engl J Med . 2005;352:1413–1424
- . Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure . Blood Cells Mol Dis . 2005;34:257–263
- Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita . Proc Natl Acad Sci U S A . 2005;102:15960–15964
-
Expression of telomerase RNA template, but not telomerase reverse transcriptase, is limiting for telomere length maintenance in vivo
.
Mol Cell Biol
. 2004;24:
7024–3701
-
.
Genome wide linkage analysis suggests genetic heterogeneity in autosomal recessive dyskeratosis congenita, with one locus on chromosome 15
.
Blood
. 2005;106:307a;
(abstr)
- . Fanconi anemia . Semin Hematol . 2006;43:147–156
Supported in part by the Wellcome Trust.
PII: S0037-1963(06)00075-8
doi: 10.1053/j.seminhematol.2006.04.001
© 2006 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Hematology
Volume 43, Issue 3
, Pages 157-166
, July 2006
