Increased frequency of somatic mutations at glycophorin A loci in patients with aplastic anaemia, myelodysplastic syndrome and paroxysmal nocturnal haemoglobinuria

British Journal of Haematology

Volumn 98, Issue 2, 1997, Pages 384-391

  Hattori, Hideki ^a,c   Machii, Takashi ^a   Ueda, Etsuko ^a   Shibano, Masaru ^a   Kageyama, Takashi ^b   Kitani, Teruo ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c NONE   (Japan)

Author keywords

Aplastic anaemia; Glycophorin A; Myelodysplastic syndrome; Paroxysmal nocturnal haemoglobinuria; Somatic mutation

Indexed keywords

ANABOLIC AGENT; ANDROGEN; CYCLOPHOSPHAMIDE; DOXORUBICIN; GLYCOPHORIN A; MELPHALAN; RANIMUSTINE; RECOMBINANT ALPHA INTERFERON; VINCRISTINE;

ADULT; AGED; APLASTIC ANEMIA; ARTICLE; GENE FREQUENCY; GENE LOCUS; GENETIC STABILITY; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MYELODYSPLASTIC SYNDROME; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PATHOGENESIS; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 0030797846     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.2233037.x     Document Type: Article

References (31)

1. Bessler, M., Mason, P., Hillmen, P. & Luzzatto, L. (1994) Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet, 343, 951-953.
2. Bigbee, W.L., Vanderlaan, M., Fong, S.S.N. & Jensen, R.H. (1983) Monoclonal antibodies specific for the M- and N-forms of human glycophorin A. Molecular Immunology, 20, 1353-1362.
3. Bigbee, W.L., Wyrobek, A.J., Langlois, R.G. & Jensen, R.H. (1990) The effect of chemotherapy on the in vivo frequency of glycophorin A 'null' variant erythrocytes. Mutation Research, 240, 165-175.
4. Boyse, J., Hewitt, M. & Mott, M.G. (1996) Glycophorin A mutations and risk of secondary leukaemia in patients treated for childhood acute lymphoblastic leukaemia. British Journal of Haematology, 93, 117-124.
5. De Planque, M.M., Bacigalupo, A., Wursch, A., Hows, J.M., Devergie, A., Frickhofen, N., Braud, A. & Nissen, C. (1989) Long-term follow-up of severe aplastic patients treated with antithymocyte globulin. Severe Aplastic Anaemia Working Party of the European Cooperative Group for Bone Marrow Transplantation (EBMT). British Journal of Haematology, 73, 121-126.
6. Endo, M., Ware, R.E., Vreeke, T.M., Singh, S.P., Howard, T.A., Tomiya, A., Holguin, M.H. & Parker, C.J. (1996) Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood, 87, 2546-2557.
7. Griscelli Bennaceur, A., Cluckman, E., Scrobohaci, ML., Jonveaux, P., Vu, T., Bazarbachi, A., Carosella, E.D., Sigaux, E. & Socie, G. (1995) Aplastic anemia and paroxysmal nocturnal hemoglobinuria: search for a pathogenetic link. Blood, 85, 1354-1363.
8. Holguin, M.H., Fredrick, L.R., Bernshaw, N.J., Wilcox, L.A. & Parker, C.J. (1989) Isolation and characterization of a membrane protein from normal human erythrocytes that inhibits reactive lysis of the erythrocytes of paroxysmal nocturnal hemoglobinuria. Journal of Clinical Investigation, 84, 7-17.
9. Jackson, S., Sogn, J.A. & Kindt, T.J. (1982) Microdetermination of rabbit immunoglobulin allotypes by ELISA using specific antibodies conjugated with peroxidase or biotin. Journal of Immunological Methods, 48, 299-309.
10. Landsteiner, K. & Levine, P. (1927) A new agglutinable factor differentiating individual human bloods. Proceedings of the Society for Experimental Biology and Medicine, 24, 600.
11. Langlois, R.G., Bigbee, W.L. & Jensen, R.H. (1985) Flow cytometric characterization of normal and variant cells with monoclonal antibodies specific for glycophorin A. Journal of Immunology, 134, 4009-4017.
12. Langlois, R.G., Bigbee, W.L. & Jensen, R.H. (1986) Measurements of the frequency of human erythrocytes with gene expression loss phenotypes at the glycophorin A locus. Human Genetics, 74, 353-362.
13. Merry, A.H., Hodson, C., Thompson, E., Mallinson, G. & Anstee, D.J. (1986) The use of monoclonal antibodies to quantitate the levels of sialoglycoproteins alpha, delta and variant sialoglycoproteins in human erythrocyte membranes. Biochemical Journal, 233, 93-98.
14. Miltenyi, S., Müller, W., Weichel, W. & Radbruch, A. (1990) High gradient magnetic cell separation with MACS. Cytometry, 11, 231-238.
15. Miyata, T., Takeda, J., Iida, Y., Yamada, N., Inoue, N., Takahashi, M., Maeda, K., Kitani, T. & Kinoshita, T. (1993) Cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science, 259, 1318-1320.
16. Miyata, T., Yamada, N., Iida, Y., Nishimura, J., Takeda, J., Kitani, T. & Kinoshita, T. (1994) Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. New England Journal of Medicine, 330, 249-255.
17. Najean, Y. & Haguenauer, O. (1990) Long-term (5-20 years) evolution of nongrafted aplastic anemia. The Cooperative Group for the Study of Aplastic and Refractory Anemias. Blood, 76, 2222-2228.
18. Nicholson Weller, A., March, J.P., Rosenfeld, S.I. & Austen, K.F. (1983) Affected erythrocytes of patients with paroxysmal nocturnal hemoglobinuria are deficient in the complement regulatory protein, decay accelerating factor. Proceedings of the National Academy of Sciences of the United States of America, 80, 5066-5070.
19. Okada, N., Harada, R., Fujita, T. & Okada, H. (1989) A novel membrane glycophorin capable of inhibiting membrane attack by homologous complement. International Immunogy, 1, 205-208.
20. Pangburn, M.K., Schreiber, R.D. & Muller-Eberhard, H.J. (1983) Deficiency of an erythrocyte membrane protein with complement regulatory activity in paroxysmal nocturnal hemoglobinuria. Proceedings of the National Academy of Sciences of the United States of America, 80, 5430-5434.
21. Sala-Trepat, M., Boyse, J., Richard, P., Papadopoulo, D. & Moustacchi, E. (1993) Frequencies of HPRT lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors. Mutatation Research, 289, 115-126.
22. Schrezenmeier, H., Hertenstein, B., Wagner, B., Raghavacher, A. & Heimpel, H. (1995) A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency of phosphatidylinositol glycan anchored protein. Experimental Hematology, 23, 81-87.
23. Schubert, J., Schmidt, R.E. & Medof, M.E. (1993) Regulation of glycoinositol phospholipid anchor assembly in human lymphocytes: absent mannolipid synthesis in affected T and natural killer cell lines from paroxysmal nocturnal hemoglobinuria patients. Journal of Biological Chemistry, 268, 6281-6287.
24. Takahashi, M., Takeda, J., Hirose, S., Hyman, R., Inoue, N., Miyata, T., Ueda, E., Kitani, T., Medof, M.E. & Kinoshita, T. (1993) Deficient biosynthesis of N-acetylglucosaminyl phosphatidylinositol, the first intermediate of glycosyl-phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. Journal of Experimental Medicine, 177, 517-521.
25. Takeda, J., Miyata, T., Kawagoe, K., Iida, Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T. & Kinoshita, T. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell, 73, 703-711.
26. The, T.H. & Feltkamp, T.E.W. (1970) Conjugation of fluorescein isothiocyanate to antibodies. I. Experiments on the conditions of conjugation. Immunology, 18, 865-873.
27. Tichelli, A., Gratwohl, A., Wurch, A., Nissen, C. & Speck, B. (1988) Late haematological complications in severe aplastic anaemia. British Journal of Haematology, 69, 413-418.
28. Umeki, S., Kyoizumi, S., Kusunoki, Y., Nakamura, N., Sasaki, M., Mori, T., Ishikawa, Y., Cologne, J.B. & Akiyama, M. (1991) Flow cytometric measurements of somatic mutations in thorotrast patients. Japan Journal of Cancer Research, 82, 1349-1353.
29. Ueda, E., Nishimura, J., Kitani, T., Nasu, K., Kageyama, T., Kim, Y.U., Takeda, J. & Kinoshita, T. (1992) Deficient surface expression of glycosylphosphatidyl-inositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria. International Immunology, 4, 1263-1271.
30. Yamada, N., Miyata, T., Maeda, K., Kitani, T., Takeda, J. & Kinoshita, T. (1995) Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria. Blood, 85, 885-892.
31. Ware, R.E., Rosse, W.F. & Howard, T.A. (1994) Mutations within the PIG-A gene in patients with paroxysmal nocturnal hemoglobinuria. Blood, 83, 2418-2422.