Point mutations of the RUNX1/AML1 gene in sporadic and familial myeloid leukemias

International Journal of Hematology

Volumn 74, Issue 3, 2001, Pages 245-251

  Osato, Motomi ^a   Yanagida, Masatoshi ^a   Shigesada, Katsuya ^a   Ito, Yoshiaki ^a  

^a KYOTO UNIVERSITY   (Japan)

Author keywords

AML1; Familial leukemia; PEBP2; Point mutation; RUNX1

Indexed keywords

AML1 PROTEIN; DNA BINDING PROTEIN; DNA BINDING PROTEINS; TRANSCRIPTION FACTOR;

ANIMAL; BIOLOGICAL MODEL; CHEMISTRY; DOMINANT GENE; GENETIC LINKAGE; GENETICS; HUMAN; MYELOID LEUKEMIA; POINT MUTATION; REVIEW;

ANIMAL; DNA-BINDING PROTEINS; GENES, DOMINANT; HUMAN; LEUKEMIA, MYELOID; LINKAGE (GENETICS); MODELS, BIOLOGICAL; POINT MUTATION; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION FACTORS;

EID: 0035488475     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02982056     Document Type: Article

References (20)

1. Osato M, Asou N, Abdalla E, et al. Biallelic and heterozygous point mutations in the Runt domian of the AML1/PEBP2αB gene associated with myeloblastic leukemia. Blood. 1999;93: 1817-1824.
2. Preudhomme C, Warot-Loze D, Roumier C, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/ PEBP2αB gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood. 2000;96:2862-2869.
3. Imai Y, Kurokawa M, Izutsu K, et al. Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis. Blood. 2000;96:3154-3160.
4. Song W-J, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytpenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23: 166-175.
5. Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 1997;89: 773-779.
6. Nagata T, Gupta V, Sorce D, et al. Immunogobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain. Nat Struct Biol. 1999;6:615-619.
7. Nagata T, Werner MH. Functional mutagenesis of AML1/RUNX1 and PEBP2β/CBFβ define distinct, non-overlapping sites for DNA recognition and heterodimerization by the runt domain. J Mol Biol. 2001;308:191-203.
8. Tahirov TH, Inoue-Bungo T, Morii H, et al. Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFβ. Cell. 2001;104:755-767.
9. Yergeau DA, Hetherington CJ, Wang Q, et al. Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nat Genet. 1997;15:303-306.
10. Okuda T, van-Deursen J, Hiebert SW, et al. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell. 1996;84:321-330.
11. Drabkin HA, Erickson P. Down syndrome and leukemia, an update. Prog Clin Biol Res. 1995;393:169-176.
12. Gerrard JM, Israels ED, Bishop AJ, et al. Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. Br J Haematol. 1991;79:246-255.
13. Ho CY, Otterud B, Legare RD, et al. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancy to human chromosome 21q22.1-22.2. Blood. 1996;87:5218-5224.
14. Legare RD, Lu D, Gallagher M, et al. CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome. Leukemia. 1997;11:2111-2119.
15. Horwitz M, Benson KF, Li FQ, et al. Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2. Am J Hum Genet. 1997;61:873-881.
16. Yeoh AEJ, Williams K, Behm F, et al. Somatic mutations of the AML-1 gene are frequent in acute myeloid leukemia with FAB M0 morphology [abstract]. Blood. 2000;96:91a.
17. Huang G, Shigesada K, Ito K, et al. Dimerization with PEBP2β protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J. 2001;20:723-733.
18. Roulston D, Espinosa R 3rd, Nucifora G, et al. CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy. Blood. 1998;92: 2879-2885.
19. Castilla LH, Garrett L, Adya N, et al. The fusion gene Cbfβ-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia. Nat Genet. 1999;23:144-146.
20. Kiyoi H, Naoe T, Nakano Y, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999;93:3074-3080.