Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

Haematologica

Volumn 91, Issue 5, 2006, Pages 656-658

  Liang, Juan ^a   Yagasaki, Hiroshi ^a   Kamachi, Yoshiro ^a   Hama, Asahito ^a   Matsumoto, Kimikazu ^b   Kato, Kouji ^b   Kudo, Kazuko ^a   Kojima, Seiji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

Author keywords

Aplastic anemia; Children; Telomere length; TERC; TERT

Indexed keywords

RIBONUCLEOPROTEIN; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE;

ADOLESCENT; APLASTIC ANEMIA; ARTICLE; ASIAN; CATALYSIS; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DIFFERENCE; HETEROZYGOSITY; HUMAN; INFANT; JAPAN; MAJOR CLINICAL STUDY; MALE; MORBIDITY;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANEMIA, APLASTIC; CATALYTIC DOMAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DRUG RESISTANCE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEPATITIS; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; RNA; TELOMERASE; TELOMERE; VIRUS DISEASES;

EID: 33744497036     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Marsh JCW, Ball SE, Darbyshire F, Gordon-Smith EC, Keidan AJ, Martin A, et al. Guidelines for the diagnosis and management of acquired aplastic anaemia. Br J Haematol 2003;123:782-801.
2. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anemia and mutation in telomerase RNA. Lancet 2002;359:2168-70.
3. Yamaguchi H, Gabriela M, Baerlocher PM, Lansdorp SJ, Nunez CO, Sloand E, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003;102:916-8.
4. Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, et al. Late presentation or dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 2003;362:1628-30.
5. Fu D, Collins K. Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol Cell 2003;11:1361-72.
6. Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanoca SJ, et al. Mutation in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005;352:1413-24.
7. Hultdin M, Gronlund E, Norrback KF, Eriksson-Linstrom E, Just T, Roos G. Telomere analysis by fluorescence in situ hybridization and flow cytometry. Nucleic Acids Res 1998;26:3651-6.
8. Brümmendorf TH, Maciejewski JP, Mak J, Young NS, Lansdorp PM. Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood 2001;97:895-900.
9. Vulliamy T, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cell Mol Dis 2005;34:257-63.
10. Marrone A, Stevens D, Vulliam T, Dokal I, Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004;104:3936-42.
11. Ly H, Calado RT, Allard P, Baerlocher GM, Lansdorp PM, Young NS, et al. Functional characterization of telomerase RNA variants found in patients with hematologic disorders. Blood 2005;105:2332-9.
12. Calado Rt, Pintao MC, Silva WJR, Falcao RP, Zago MPA. Aplastic anemia and telomerase RNA mutation. Lancet 2002;360:1608.
13. Cong YS, Wringt WE, Shay JW. Human telomerase and its regulation. Microbiol Mol Biol R 2002;66:407-25.
14. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutation in TERC. Nat Genet 2004;36:447-9.
15. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005;102:15960-4.