publication . Article . 2015

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

Bai-Wei Gu; Marisa Apicella; Jason Mills; Jian-Meng Fan; Dara A Reeves; Deborah French; Gregory M Podsakoff; Monica Bessler; Philip J Mason;
Open Access English
  • Published: 01 May 2015 Journal: PLoS ONE, volume 10, issue 5 (issn: 1932-6203, eissn: 1932-6203, Copyright policy)
  • Publisher: Public Library of Science
Abstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been shown to cause DC. The X-linked form is the most common form of the disease and is caused by mutations in the gene DKC1, encoding the protein dyskerin. Dyskerin is required for the assembly and stability of telomerase and is also involved in ribosomal RNA (rRNA) processing where it converts specific uridines to pseudouridine. DC is thought to result from failure to maintain tissues, like blood, that are renewed by stem...
Subjects
free text keywords: Q, R, Research Article, Science, Medicine
Funded by
NIH| THE PATHOGENESIS OF DYSKERATOSIS CONGENITA
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2R01CA106995-06A1
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Core E: Molecular Gene Delivery/Modification Core
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P30DK090969-02
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| MOLECULAR STUDIES OF BONE MARROW FAILURE
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01CA105312-09
  • Funding stream: NATIONAL CANCER INSTITUTE
49 references, page 1 of 4

1 Drachtman RA, Alter BP (1995) Dyskeratosis congenita. Dermatol Clin 13: 33–39. 7712648 [PubMed]

2 Dokal I (2011) Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program 2011: 480–486. doi: 10.1182/asheducation-2011.1.480 22160078 [OpenAIRE] [PubMed]

3 Ballew BJ, Savage SA (2013) Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 6: 327–337. doi: 10.1586/ehm.13.23 23782086 [PubMed]

4 Mitchell JR, Wood E, Collins K (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551–555. 10591218 [PubMed]

5 Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 107: 2680–2685. 16332973 [PubMed]

6 Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ et al (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19: 32–38. 9590285 [PubMed]

7 Kiss T, Fayet-Lebaron E, Jady BE (2010) Box H/ACA small ribonucleoproteins. Mol Cell 37: 597–606. doi: 10.1016/j.molcel.2010.01.032 20227365 [OpenAIRE] [PubMed]

8 Meier UT (2005) The many facets of H/ACA ribonucleoproteins. Chromosoma 114: 1–14. 15770508 [OpenAIRE] [PubMed]

9 Chen JL, Blasco MA, Greider CW (2000) Secondary structure of vertebrate telomerase RNA. Cell 100: 503–514. 10721988 [PubMed]

10 Mitchell JR, Cheng J, Collins K (1999) A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol 19: 567–576. 9858580 [OpenAIRE] [PubMed]

11 Grozdanov PN, Fernandez-Fuentes N, Fiser A, Meier UT (2009) Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. Hum Mol Genet 18: 4546–4551. doi: 10.1093/hmg/ddp416 19734544 [OpenAIRE] [PubMed]

12 Trahan C, Dragon F (2009) Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. RNA 15: 235–243. doi: 10.1261/rna.1354009 19095616 [OpenAIRE] [PubMed]

13 de Lange T (2005) Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 19: 2100–2110. 16166375 [PubMed]

14 Nelson ND, Bertuch AA (2012) Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res 730: 43–51. doi: 10.1016/j.mrfmmm.2011.06.008 21745483 [OpenAIRE] [PubMed]

15 Pereboom TC, van Weele LJ, Bondt A, MacInnes AW (2011) A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization. Blood 118: 5458–5465. doi: 10.1182/blood-2011-04-351460 21921046 [OpenAIRE] [PubMed]

49 references, page 1 of 4
Abstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been shown to cause DC. The X-linked form is the most common form of the disease and is caused by mutations in the gene DKC1, encoding the protein dyskerin. Dyskerin is required for the assembly and stability of telomerase and is also involved in ribosomal RNA (rRNA) processing where it converts specific uridines to pseudouridine. DC is thought to result from failure to maintain tissues, like blood, that are renewed by stem...
Subjects
free text keywords: Q, R, Research Article, Science, Medicine
Funded by
NIH| THE PATHOGENESIS OF DYSKERATOSIS CONGENITA
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2R01CA106995-06A1
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Core E: Molecular Gene Delivery/Modification Core
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P30DK090969-02
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| MOLECULAR STUDIES OF BONE MARROW FAILURE
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01CA105312-09
  • Funding stream: NATIONAL CANCER INSTITUTE
49 references, page 1 of 4

1 Drachtman RA, Alter BP (1995) Dyskeratosis congenita. Dermatol Clin 13: 33–39. 7712648 [PubMed]

2 Dokal I (2011) Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program 2011: 480–486. doi: 10.1182/asheducation-2011.1.480 22160078 [OpenAIRE] [PubMed]

3 Ballew BJ, Savage SA (2013) Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 6: 327–337. doi: 10.1586/ehm.13.23 23782086 [PubMed]

4 Mitchell JR, Wood E, Collins K (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551–555. 10591218 [PubMed]

5 Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 107: 2680–2685. 16332973 [PubMed]

6 Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ et al (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19: 32–38. 9590285 [PubMed]

7 Kiss T, Fayet-Lebaron E, Jady BE (2010) Box H/ACA small ribonucleoproteins. Mol Cell 37: 597–606. doi: 10.1016/j.molcel.2010.01.032 20227365 [OpenAIRE] [PubMed]

8 Meier UT (2005) The many facets of H/ACA ribonucleoproteins. Chromosoma 114: 1–14. 15770508 [OpenAIRE] [PubMed]

9 Chen JL, Blasco MA, Greider CW (2000) Secondary structure of vertebrate telomerase RNA. Cell 100: 503–514. 10721988 [PubMed]

10 Mitchell JR, Cheng J, Collins K (1999) A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol 19: 567–576. 9858580 [OpenAIRE] [PubMed]

11 Grozdanov PN, Fernandez-Fuentes N, Fiser A, Meier UT (2009) Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. Hum Mol Genet 18: 4546–4551. doi: 10.1093/hmg/ddp416 19734544 [OpenAIRE] [PubMed]

12 Trahan C, Dragon F (2009) Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. RNA 15: 235–243. doi: 10.1261/rna.1354009 19095616 [OpenAIRE] [PubMed]

13 de Lange T (2005) Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 19: 2100–2110. 16166375 [PubMed]

14 Nelson ND, Bertuch AA (2012) Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res 730: 43–51. doi: 10.1016/j.mrfmmm.2011.06.008 21745483 [OpenAIRE] [PubMed]

15 Pereboom TC, van Weele LJ, Bondt A, MacInnes AW (2011) A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization. Blood 118: 5458–5465. doi: 10.1182/blood-2011-04-351460 21921046 [OpenAIRE] [PubMed]

49 references, page 1 of 4
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publication . Article . 2015

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

Bai-Wei Gu; Marisa Apicella; Jason Mills; Jian-Meng Fan; Dara A Reeves; Deborah French; Gregory M Podsakoff; Monica Bessler; Philip J Mason;