The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH)

Blood

Volumn 108, Issue 2, 2006, Pages 734-736

  Araten, David J ^a   Luzzatto, Lucio ^b  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CELL DIVISION; CELL LINE; CELL POPULATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; GENE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MUTATION RATE; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PIG A GENE; PRIORITY JOURNAL; SOMATIC MUTATION; X CHROMOSOME LINKAGE;

EID: 33646527709     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-01-0256     Document Type: Article

References (28)

1. Miyata T, Takeda J, Iida Y, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993;259:1318-1320.
2. Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L. Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A. 1993;90:5272-5276.
3. Rosse WF, Ware RE. The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood. 1995;86:3277-3286.
4. Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood. 1996;87:5332-5340.
5. Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A. 1999;96:5209-5214.
6. Hu R, Mukhina GL, Piantadosi S, Barber JP, Jones RJ, Brodsky RA. PIG-A mutations in normal hematopoiesis. Blood. 2005;105:3848-3854.
7. Luzzatto L, Bessler M, Rotoli B. Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? Cell. 1997;88:1-4.
8. Rotoli B, Luzzatto L. Paroxysmal nocturnal haemoglobinuria. Baillieres Clin Haematol. 1989;2:113-138.
9. Young NS. The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood. 1992;79:1385-1392.
10. Keller P, Payne JL, Tremml G, et al. FES-Cre targets phosphatidylinositol glycan class A (PIGA) inactivation to hematopoietic stem cells in the bone marrow. J Exp Med. 2001;194:581-589.
11. Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333:1253-1258.
12. Elebute MO, Rizzo S, Tooze JA, Marsh JC, Gordon-Smith EC, Gibson FM. Evaluation of the haemopoietic reservoir in de novo haemolytic paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2003;123:552-560.
13. Karadimitris A, Manavalan JS, Thaler HT, et al. Abnormal T-cell repertoire is consistent with immune process underlying the pathogenesis of paroxysmal nocturnal hemglobinuria. Blood. 2000;96:2613-2620.
14. Maciejewski JP, Follmann D, Nakamura R, et al. Increased frequency of HLA-DR2 in patients with paroxysmal nocturnal hemoglobinuria and the PNH/aplastic anemia syndrome. Blood. 2001;98:3513-3519.
15. Endo M, Ware RE, Vreeke TM, et al. Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood. 1996;87:2546-2557.
16. Nafa K, Bessler M, Deeg HJ, Luzzatto L. New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocutrnal hemoglobinuria. Blood. 1998;92:3422-3427.
17. Bessler M, Mason P, Hillmen P, Luzzatto L. Somatic mutation and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet. 1994;343:951-953.
18. Nishimura J, Inoue N, Wada H, et al. A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones. Blood. 1997;89:3470-3476.
19. Horikawa K, Kawaguchi T, Ishihara S, et al. Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria. Blood. 2002;99:24-29.
20. Purow DB, Howard TA, Marcus SJ, Rosse WF, Ware RE. Genetic instability and the etiology of somatic PIG-A mutations in paroxysmal nocturnal hemoglobinuria. Blood Cells Mol Dis. 1999;25:81-91.
21. Chen G, Zeng W, Green S, Young NS. Frequent HPRT mutations in paroxysmal nocturnal haemoglobinuria reflect T cell clonal expansion, not genomic instability. Br J Haematol. 2004;125:383-391.
22. Hattori H, Machii T, Ueda E, Shibano M, Kageyama T, Kitani T. Increased frequency of somatic mutations at glycophorin A loci in patients with aplastic anaemia, myelodysplastic syndrome and paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1997;98:384-391.
23. Parker CJ. PNH: "plus ça change, plus c'est la même chose." Blood. 2002;99:2.
24. Araten DJ, Golde DW, Zhang RH, et al. A quantitative measurement of the human somatic mutation rate. Cancer Res. 2005;65:8111-8117.
25. Araten DJ, Bessler M, McKenzie S, et al. Dynamics of hematopoiesis in paroxysmal nocturnal hemoglobinuria: no evidence for intrinsic growth advantage of PNH clones. Leukemia. 2002;16:2243-2248.
26. Hillmen P, Bessler M, Crawford DH, Luzzatto L. Production and characterization of lymphoblastoid cell lines with the paroxysmal nocturnal hemoglobinuria phenotype. Blood. 1993;81:193-199.
27. Yamada N, Miyata T, Maeda K, Kitani T, Takeda J, Kinoshita T. Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria. Blood. 1995;85:885-892.
28. Allegretta M, Nicklas JA, Sriram S, Albertini RJ. T cells responsive to myelin basic protein in patients with multiple sclerosis. Science. 1990;247:718-721.