Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita

Journal of Medical Genetics

Volumn 48, Issue 4, 2011, Pages 285-288

  Savage, Sharon A ^a   Giri, Neelam ^a   Jessop, Lea ^a   Pike, Kristen ^b   Plona, Teri ^b   Burdett, Laurie ^c   Alter, Blanche P ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b SAIC FREDERICK INC   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOCORTICAL DYSPLASIA HOMOLOGUE; PROTECTION OF TELOMERE 1; PROTEIN; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 1 INTERACTING NUCLEAR FACTOR 2; TELOMERIC REPEAT BINDING FACTOR 2; TELOMERIC REPEAT BINDING FACTOR 2 INTERACTING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BONE MARROW DEPRESSION; CHILD; CLINICAL ARTICLE; DYSKERATOSIS CONGENITA; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TELOMERE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DYSKERATOSIS CONGENITA; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; TELOMERE; TELOMERE-BINDING PROTEINS;

EID: 79953692083     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.082727     Document Type: Article

References (20)

1. Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009;23:215-31.
2. Walne AJ, Dokal I. Dyskeratosis congenita: a historical perspective. Mech Ageing Dev 2008;129:48-59.
3. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood 2009;113:6549-57.
4. Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007;110:1439-47.
5. Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001;27:353-7.
6. Aubert G, Lansdorp PM. Telomeres and aging. Physiol Rev 2008;88:557-79.
7. Palm W, de Lange T. How shelterin protects mammalian telomeres. Annu Rev Genet 2008;42:301-34.
8. Savage SA, Stewart BJ, Eckert A, Kiley M, Liao JS, Chanock SJ. Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint. Hum Mutat 2005;26:343-50.
9. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82:501-9.
10. Walne AJ, 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;112:3594-600.
11. Savage SA, Calado RT, Xin ZT, Ly H, Young NS, Chanock SJ. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol 2006;34:664-71.
12. Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010;150:179-88.
13. Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680-5.
14. Packer BR, Yeager M, Burdett L, Welch R, Beerman M, Qi L, Sicotte H, Staats B, Acharya M, Crenshaw A, Eckert A, Puri V, Gerhard DS, Chanock SJ. SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res 2006;34(Database issue): D617-21.
15. International HapMap Consortium. The International HapMap Project. Nature 2003;426:789-96.
16. Loots GG, Ovcharenko I. rVISTA 2.0: evolutionary analysis of transcription factor binding sites. Nucleic Acids Res 2004;32(Web Server issue):W217-21.
17. Baumann P, Podell E, Cech TR. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. Mol Cell Biol 2002;22:8079-87.
18. Fairbrother WG, Yeo GW, Yeh R, Goldstein P, Mawson M, Sharp PA, Burge CB. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Res 2004;32(Web Server issue):W187-90.
19. Palm W, Hockemeyer D, Kibe T, de Lange T. Functional dissection of human and mouse POT1 proteins. Mol Cell Biol 2009;29:471-82.
20. He H, Wang Y, Guo X, Ramchandani S, Ma J, Shen MF, Garcia DA, Deng Y, Multani AS, You MJ, Chang S. Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. Mol Cell Biol 2009; 29:229-40.