Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia

Experimental Hematology

Volumn 34, Issue 5, 2006, Pages 664-671

  Savage, Sharon A ^a   Calado, Rodrigo T ^b   Xin, Zhong Tao ^c   Ly, Hinh ^c   Young, Neal S ^b   Chanock, Stephen J ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; TELOMERASE; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 2;

ADOLESCENT; ADULT; AGED; AMINO ACID ANALYSIS; AMINO ACID SEQUENCE; APLASTIC ANEMIA; ARTICLE; CHILD; CLINICAL OBSERVATION; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME ACTIVITY; EXON; FEMALE; FUNCTIONAL ASSESSMENT; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPOTHESIS; MALE; NUCLEOTIDE SEQUENCE; PATIENT SELECTION; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANEMIA, APLASTIC; BLOTTING, WESTERN; FEMALE; HUMANS; MALE; POLYMERASE CHAIN REACTION; TELOMERIC REPEAT BINDING PROTEIN 1; TELOMERIC REPEAT BINDING PROTEIN 2; VARIATION (GENETICS);

EID: 33646493509     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exphem.2006.02.008     Document Type: Article

References (30)

1. Young N.S. Acquired aplastic anemia. Ann Intern Med 136 (2002) 534-546
2. Brummendorf T.H., Maciejewski J.P., Mak J., Young N.S., and Lansdorp P.M. Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood 97 (2001) 895-900
3. Ball S.E., Gibson F.M., Rizzo S., et al. Progressive telomere shortening in aplastic anemia. Blood 91 (1998) 3582-3592
4. Knight S.W., Heiss N.S., Vulliamy T.J., et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 65 (1999) 50-58
5. Knight S.W., Vulliamy T.J., Morgan B., et al. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 108 (2001) 299-303
6. Vulliamy T., Marrone A., Szydlo R., et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36 (2004) 447-449
7. Yamaguchi H., Baerlocher G.M., Lansdorp P.M., et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102 (2003) 916-918
8. Yamaguchi H., Calado R.T., Ly H., et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 352 (2005) 1413-1424
9. Shay J.W., Zou Y., Hiyama E., and Wright W.E. Telomerase and cancer. Hum Mol Genet 10 (2001) 677-685
10. Maser R.S., and DePinho R.A. Connecting chromosomes, crisis, and cancer. Science 297 (2002) 565-569
11. van Steensel B., and de Lange T. Control of telomere length by the human telomeric protein TRF1. Nature 385 (1997) 740-743
12. Smith S., and de Lange T. TRF1, a mammalian telomeric protein. Trends Genet 13 (1997) 21-26
13. van Steensel B., Smogorzewska A., and de Lange T. TRF2 protects human telomeres from end-to-end fusions. Cell 92 (1998) 401-413
14. Karlseder J., Smogorzewska A., and de Lange T. Senescence induced by altered telomere state, not telomere loss. Science 295 (2002) 2446-2449
15. Smogorzewska A., van Steensel B., Bianchi A., et al. Control of human telomere length by TRF1 and TRF2. Mol Cell Biol 20 (2000) 1659-1668
16. Savage S.A., Stewart B.J., Eckert A., et al. Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint. Hum Mutat 26 4 (2005) 343-350
17. Broccoli D., Smogorzewska A., Chong L., and de Lange T. Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. Nat Genet 17 (1997) 231-235
18. The International Agranulocytosis and Aplastic Anemia Study. Incidence of aplastic anemia: the relevance of diagnostic criteria. Blood 70 (1987) 1718-1721
19. Packer B.R., Yeager M., Staats B., et al. SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res 32 Database issue (2004) D528-D532
20. Kruglyak L., and Nickerson D.A. Variation is the spice of life. Nat Genet 27 (2001) 234-236
21. Stephens M., Smith N.J., and Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68 (2001) 978-989
22. Stephens M., and Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73 (2003) 1162-1169
23. Lake S.L., Lyon H., Tantisira K., et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered 55 (2003) 56-65
24. Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
25. Sunyaev S., Ramensky V., Koch I., et al. Prediction of deleterious human alleles. Hum Mol Genet 10 (2001) 591-597
26. Pertea M., Lin X., and Salzberg S.L. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 29 (2001) 1185-1190
27. Reese M.G., Eeckman F.H., Kulp D., and Haussler D. Improved splice site detection in Genie. J Comput Biol 4 (1997) 311-323
28. Stewart S.A., Ben-Porath I., Carey V.J., et al. Erosion of the telomeric single-strand overhang at replicative senescence. Nat Genet 33 (2003) 492-496
29. Cimino-Reale G., Pascale E., Battiloro E., et al. The length of telomeric G-rich strand 3′-overhang measured by oligonucleotide ligation assay. Nucleic Acids Res 29 7 (2001) E35
30. Grantham R. Amino acid difference formula to help explain protein evolution. Science 185 (1974) 862-864