Molecular genetics of the blood group i system and the regulation of i antigen expression during erythropoiesis and granulopoiesis

Current Opinion in Hematology

Volumn 18, Issue 6, 2011, Pages 421-426

  Yu, Lung Chih ^a,b   Lin, Marie ^c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b INSTITUTE OF BIOLOGICAL CHEMISTRY   (Taiwan)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

adult i phenotype; blood groups; CCAAT enhancer binding protein ; congenital cataracts; I antigen

Indexed keywords

BLOOD GROUP I ANTIGEN; CCAAT ENHANCER BINDING PROTEIN ALPHA; SERINE;

ANTIGEN EXPRESSION; CONGENITAL CATARACT; DEPHOSPHORYLATION; ERYTHROPOIESIS; GENE LOCUS; GRANULOPOIESIS; HUMAN; MOLECULAR GENETICS; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REGULATORY MECHANISM; REVIEW;

CATARACT; ERYTHROCYTES; ERYTHROPOIESIS; GLYCOSPHINGOLIPIDS; HUMANS; I BLOOD-GROUP SYSTEM; LEUKOPOIESIS;

EID: 80054744145     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e32834baae9     Document Type: Review

References (50)

1. Wiener AS, Unger LJ, Cohen L, Feldman J. Type-specific cold auto-antibodies as a cause of acquired hemolytic anemia and hemolytic transfusion reactions: Biological test with bovine red cells. Ann Intern Med 1956; 44:221-240.
2. Marsh WL, Jenkins WJ. Anti-i: A new cold antibody. Nature 1960; 188:753.
3. Issitt PD, Anstee DJ. Applied blood group serology. Durham, North Carolina: Montgomery Scientific Publications; 1998.
4. Daniels G. Human blood groups. Oxford, UK: Blackwell Science; 2002.
5. Reid ME, Lomas-Francis C. The blood group antigen factsbook. San Diego, California: Elsevier Ltd; 2004.
6. Marsh WL. Anti-i: A cold antibody defining the Ii relationship in human red cells. Br J Haematol 1961; 7:200-209.
7. Watanabe K, Hakomori S. Status of blood group carbohydrate chains in ontogenesis and in oncogenesis. J Exp Med 1976; 144:644-653.
8. Neimann H, Watanabe K, Hakomori S, et al. Blood group i and I activities of 'lacto-N-nor-hexaosylceramide' and its analogues: The structural requirements for i-specificity. Biochem Biophys Res Commun 1978; 81:1286-1293. (Pubitemid 8331488)
9. Kościelak J, Zdebska E, Wilczyńska Z, et al. Immunochemistry of Ii-activity glycosphingolipids. Eur J Biochem 1979; 96:331-337.
10. Feizi T, Childs RA, Watanabe K, Hakomori S. Three types of blood group I specificity among monoclonal anti-I antoantibodies revealed by analogues of a branched erythrocyte glycolipid. J Exp Med 1979; 149:975-980. (Pubitemid 9154759)
11. Watanabe K, Hakomori S, Childs RA, Feizi T. Characterization of a blood group I-active ganglioside. J Biol Chem 1979; 254:3221-3228.
12. Fukuda M, Fukuda MN, Hakomori S. Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane. J Biol Chem 1979; 254:3700-3703. (Pubitemid 9178781)
13. Fukuda MN, Fukuda M, Hakomori S. Cell surface modification by endo-bgalactosidase. Change of blood group activities and release of oligosaccharides from glycoproteins and glycosphingolipids of human erythrocytes. J Biol Chem 1979; 254:5458-5465. (Pubitemid 9231911)
14. Fukuda M, Fukuda MN, Papayannopoulou T, Hakomori S. Membrane differentiation in human erythroid cells: Unique profiles of cell surface glycoproteins expressed in erythroblasts in vitro from three ontogenic stages. Proc Natl Acad Sci U S A 1980; 77:3474-3478. (Pubitemid 10012257)
15. Piller F, Cartron JP, Maranduba A, et al. Biosynthesis of blood group I antigens. J Biol Chem 1984; 259:13385-13390.
16. Feizi T, Cederqvist LL, Childs R. The blood group I and i antigens of amniotic fluid. I. Association of I and i antigens with blood group A, B and H antigens. Br J Haematol 1975; 30:489-497.
17. Feizi T, Kabat EA, Vicari G, et al. Immunochemical studies on blood groups. XLVII. The I antigen complex: Precursors in the A, B, H, Lea, and Leb blood group system - hemagglutination-inhibition studies. J Exp Med 1971; 133:39-52.
18. Clausen H, Hakomori S. ABH and related histo-blood group antigens; immunochemical differences in carrier isotypes and their distribution. Vox Sang 1989; 56:1-20. (Pubitemid 19023824)
19. Yamaguchi H, Okubo Y, Tanaka M. A note on possible close linkage between the Ii blood locus and a congenital cataract locus. Proc Japan Acad 1972; 48:625-628.
20. Ogata H, Okubo Y, Akabane T. Phenotype i associated with congenital cataract in Japanese. Transfusion 1979; 19:166-168. (Pubitemid 9235143)
21. Lin-Chu M, Broadberry RE, Okubo Y, Tanaka M. The i phenotype and congenital cataracts among Chinese in Taiwan. Transfusion 1991; 31:676-677.
22. Lin M, Hou MJ, Yu LC. A novel IGnT allele responsible for the adult i phenotype. Transfusion 2006; 46:1982-1987. (Pubitemid 44631606)
23. Marsh WL, DePalma H. Association between the Ii blood group and congenital cataract. Transfusion 1982; 22:337-338. (Pubitemid 12038787)
24. Macdonald EB, Douglas R, Harden PA. A Caucasian family with the i phenotype and congenital cataracts. Vox Sang 1983; 44:322-325. (Pubitemid 13113882)
25. Page PL, Langevin S, Petersen RA, Kruskall MS. Reduced association between the Ii blood group and congenital cataracts in white patients. Am J Clin Pathol 1987; 87:101-102. (Pubitemid 17216832)
26. Yu LC, Twu YC, Chang CY, Lin M. Molecular basis of the adult I phenotype and the gene responsible for the expression of the human blood group I antigen. Blood 2001; 98:3840-3845.
27. Bierhuizen MFA, Mattei M-G, Fukuda M. Expression of the developmental I antigen by a cloned human cDNA encoding a member of a b-1,6-N- acetylglucosaminyltransferase gene family. Genes Dev 1993; 7:468-478. (Pubitemid 23139239)
28. Yu LC, Twu YC, Chou ML, et al. The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. Blood 2003; 101:2081- 2088. References [28] and [29], although both published several years ago, elucidate the complex molecular genetics of the human I locus. Reference [28] further reports the analysis and comparison of the molecular bases of the adult i phenotype in two groups of individuals, with and without congenital cataracts, and proposes a molecular mechanism for the partial association of the adult i phenotype with congenital cataracts.
29. Inaba N, Hiruma T, Togayachi A, et al. A novel I-branching b-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. Blood 2003; 101:2870-2876. (Pubitemid 36857656)
30. Wussuki-Lior O, Abu-Horowitz A, Netzer I, et al. Hematologic biomarkers in childhood cataracts. Mol Vis 2011; 17:1011-1015.
31. Pras E, Raz J, Yahalom V, et al. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004; 45:1940-1945. (Pubitemid 38868993)
32. Reid ME. The gene encoding the I blood group antigen: Review of an I for an eye. Immunohematology 2004; 20:249-252. (Pubitemid 39612589)
33. Twu YC, Chou ML, Yu LC. The molecular genetics of the mouse I b-1,6-Nacetylglucosaminyltransferase locus. Biochem Biophys Res Commun 2003; 303:868-876.
34. Chen GY, Muramatsu H, Kondo M, et al. Abnormalities caused by carbohydrate alterations in I b-1,6-N-acetylglucosaminyltransferase-deficient mice. Mol Cell Biol 2005; 25:7828-7838. (Pubitemid 41170142)
35. Rosenfield RE. A-B hemolytic disease of the newborn: Analysis of 1480 cord blood specimens, with special reference to the direct antiglobulin test and to the group O mother. Blood 1955; 10:17-28.
36. Klinman NR, Karush F. Equine antihapten antibody. V. The nonprecipitability of bivalent antibody. Immunochemistry 1967; 4:387-405.
37. Hornick CL, Karush F. Antibody affinity. III. The role of multivalence. Immunochemistry 1972; 9:325-340.
38. Gopalakrishnan PV, Karush F. Antibody affinity. VII. Multivalent interaction of antilactoside antibody. J Immunol 1974; 113:769-778.
39. Romans DG, Tilley CA, Dorrington KJ. Monogamous bivalency of IgG antibodies. I. Deficiency of branched ABHI-active oligosaccharide chains on red cells of infants causes the weak antiglobulin reactions in hemolytic disease of the newborn due to ABO incompatibility. J Immunol 1980; 124:2807-2811. (Pubitemid 10116057)
40. Twu YC, Chen CP, Hsieh CY, et al. I branching formation in erythroid differentiation is regulated by transcription factor C/EBPa. Blood 2007; 110:4526-4534.
41. Tenen DG, Hromas R, Licht JD, Zhang DE. Transcription factors, normal myeloid development, and leukemia. Blood 1997; 90:489-519. (Pubitemid 27299089)
42. Mueller BU, Pabst T. C/EBPa and the pathophysiology of acute myeloid leukemia. Curr Opin Hematol 2006; 13:7-14.
43. Friedman AD. Transcriptional control of granulocyte and monocyte development. Oncogene 2007; 26:6816-6828. (Pubitemid 47585105)
44. Ross SE, Radomska HS, Wu B, et al. Phosphorylation of C/EBPa inhibits granulopoiesis. Mol Cell Biol 2004; 24:675-686.
45. Twu YC, Hsieh CY, Lin M, et al. Phosphorylation status of transcription factor C/EBPa determines cell surface poly-LacNAc branching (I antigen) formation in erythropoiesis and granulopoiesis. Blood 2010; 115:2491-2499. This study demonstrates that the formation of I antigen during the development of both erythrocytes and granulocytes is regulated by a mechanism that is crucial to controlling granulopoiesis, namely transcription factor C/EBPa and Ser-21 phosphorylation/ dephosphorylation within this protein.
46. Zhang DE, Zhang P, Wang ND, et al. Absence of granulocyte colonystimulating factor signaling and neutrophil development in CCAAT enhancer binding protein a-deficient mice. Proc Natl Acad Sci U S A 1997; 94:569-574. (Pubitemid 27053674)
47. Witt O, Sand K, Pekrun A. Butyrate-induced erythroid differentiation of human K562 leukemia cells involves inhibition of ERK and activation of p38 MAP kinase pathways. Blood 2000; 95:2391-2396. (Pubitemid 30167741)
48. Witt O, Monkemeyer S, Rö nndahl G, et al. Induction of fetal hemoglobin expression by the histone deacetylase inhibitor apicidin. Blood 2003; 101:2001-2007. (Pubitemid 36237607)
49. Pace BS, Qian XH, Sangerman J, et al. p38 MAP kinase activation mediates g-globin gene induction in erythroid progenitors. Exp Hematol 2003; 31:1089-1096. (Pubitemid 37329753)
50. Radomska HS, Bassé res DS, Zheng R, et al. Block of C/EBPa function by phosphorylation in acute myeloid leukemia with FLT3 activating mutations. J Exp Med 2006; 203:371-381. (Pubitemid 43290846)