Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups

Blood

Volumn 117, Issue 2, 2011, Pages 678-687

  Thuresson, Britt ^a,b   Westman, Julia S ^b   Olsson, Martin L ^a,b  

^a University and Regional Laboratories   (Sweden)

^b LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSPHINGOLIPID; GLYCOSYLTRANSFERASE; LUCIFERASE; MESSENGER RNA;

A4GALT GENE; ALLELE; ANTIBIOTIC SENSITIVITY; ARTICLE; BLOOD; BLOOD GROUP P SYSTEM; BONE MARROW CELL; DNA POLYMORPHISM; EXON; GENE; GENE IDENTIFICATION; GENE LOCUS; GENOTYPE; HUMAN; HUMAN CELL; INTRON; NORMAL HUMAN; OPEN READING FRAME; PHENOTYPE; POLYADENYLATION; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY MECHANISM; RNA CAPPING; ZYGOSITY;

EID: 78751555877     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-08-301333     Document Type: Article

References (50)

1. Daniels G, Castilho L, Flegel WA, et al. International Society of Blood Transfusion Committee on terminology for red blood cell surface antigens: Macao report. Vox Sang. 2009;96(2):153-156.
2. Veldhuisen B, van der Schoot CE, de Haas M. Blood group genotyping: from patient to high-throughput donor screening. Vox Sang. 2009;97(3):198-206.
3. Dunstan RA. Status of major red cell blood group antigens on neutrophils, lymphocytes and monocytes. Br J Haematol. 1986;62(2):301-309.
4. Dunstan RA, Simpson MB, Rosse WF. Presence of P blood group antigens on human platelets. Am J Clin Pathol. 1985;83(6):731-735. (Pubitemid 15069611)
5. Spitalnik PF, Spitalnik SL. The P blood group system: biochemical, serological, and clinical aspects. Transfus Med Rev. 1995;9(2):110-122.
6. Heiken A. Observations on the blood group receptor P1 and its development in children. Hereditas. 1966;56:83-98.
7. Ikin EW, Kay H, Playfair J, Mourant AE. P1 antigen in the human fetus. Nature. 1961; 192(4805):883.
8. Daniels G. Human Blood Groups, 2nd ed. Oxford, United Kingdom: Blackwell Scientific; 2002.
9. Lindstrom K, Dem Borne AE, Breimer ME, et al. Glycosphingolipid expression in spontaneously aborted fetuses and placenta from blood group p women. Evidence for placenta being the primary target for anti-Tja-antibodies. Glycoconj J. 1992;9(6):325-329.
10. Lomberg H, Jodal U, Eden CS, Leffler H, Samuelsson B. P1 blood group and urinary tract infection. Lancet. 1981;317(8219):551-552.
11. Brown KE, Anderson SM, Young NS. Erythrocyte P antigen: cellular receptor for B19 parvovirus. Science. 1993;262(5130):114-117.
12. Lund N, Olsson ML, Ramkumar S et al. The human P(k) histo-blood group antigen provides protection against HIV-1 infection. Blood. 2009;113(20):4980- 4991.
13. Reid ME, Lomas-Francis C. The Blood Group Antigen FactsBook, 2nd ed. San Diego, CA: Elsevier Academic Press; 2004.
14. Landsteiner K, Levine P. Further observations on individual differences of human blood. Proc Soc Exp Biol. 1927;24:941-942.
15. Morgan WT, Watkins WM. Blood group P1 substance. I. Chemical properties. Bibl Haematol. 1964;19:225-229.
16. McAlpine PJ, Kaita H, Lewis M. Is the DIA1 locus linked to the P blood group locus? Cytogenet Cell Genet. 1978;22(1-6):629-632. (Pubitemid 9171858)
17. Steffensen R, Carlier K, Wiels J, et al. Cloning and expression of the histo-blood group Pk UDP-galactose: Gal-beta1-4Glc-beta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. J Biol Chem. 2000;275(22):16723-16729.
18. Keusch JJ, Manzella SM, Nyame KA, Cummings RD, Baenziger JU. Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. J Biol Chem. 2000;275(33):25315-25321.
19. Furukawa K, Iwamura K, Uchikawa M, et al. Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha1,4-galactosyltransferase gene in Swedish and Japanese individuals. J Biol Chem. 2000;275(48):37752-37756.
20. Yang Z, Bergstrom J, Karlsson KA. Glycoproteins with Gal alpha 4Gal are absent from human erythrocyte membranes, indicating that glycolipids are the sole carriers of blood group P activities. J Biol Chem. 1994;269(20):14620- 14624.
21. Cedergren B. Population studies in northern Sweden. IV. Frequency of the blood type p. Hereditas. 1973;73(1):27-30.
22. Hellberg A, Schmidt-Melbye AC, Reid ME, Olsson ML. Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype. Transfusion. 2008;48(3):479-487. (Pubitemid 351294575)
23. Okajima T, Nakamura Y, Uchikawa M, et al. Expression cloning of human globoside synthase cDNAs. Identification of beta3Gal-T3 as UDP-N- acetylgalactosamine: globotriaosylceramide beta1,3-N- acetylgalactosaminyltransferase. J Biol Chem. 2000;275(51):40498-40503.
24. Hellberg Å, Poole J, Olsson ML. Molecular basis of the globoside-deficient Pk blood group phenotype. Identification of four inactivating mutations in the UDP-N- acetylgalactosamine:globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. J Biol Chem. 2002;277(33):29455- 29459.
25. Hellberg Å, Ringressi A, Yahalom V, Safwenberg J, Reid ME, Olsson ML. Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. Br J Haematol. 2004;125(4):528-536. (Pubitemid 38916199)
26. Koda Y, Soejima M, Sato H, Maeda Y, Kimura H. Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the p phenotype. Transfusion. 2002;42(1):48-51.
27. Hellberg Å, Steffensen R, Yahalom V et al. Additional molecular bases of the clinically important p blood group phenotype. Transfusion. 2003;43(7):899-907. (Pubitemid 36753940)
28. Yan L, Zhu F, Xu X, Zantek ND. Molecular basis for p blood group phenotype in China. Transfusion. 2004;44(1):136-138. (Pubitemid 38177150)
29. Fisher R. The variation in the strength of the human blood group P. Heredity. 1953;7:81-89.
30. Naiki M, Marcus DM. An immunochemical study of the human blood group P1, P, and PK glycosphingolipid antigens. Biochemistry. 1975;14(22):4837-4841.
31. Graham HA, Williams AN. A genetic model for the inheritance of the P, P1 and Pk antigens. Immunol Commun. 1980;9(2):191-201.
32. Iwamura K, Furukawa K, Uchikawa M, et al. The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle. J Biol Chem. 2003;278(45):44429-44438.
33. Hellberg A, Chester MA, Olsson ML. Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen. BMC Genet. 2005;6:49.
34. Tilley L, Green C, Daniels G. Sequence variation in the 5′ untranslated region of the human A4GALT gene is associated with, but does not define, the P1 blood-group polymorphism. Vox Sang. 2006;90(3):198-203.
35. Okuda T, Nakayama K. Identification and characterization of the human Gb3/CD77 synthase gene promoter. Glycobiology. 2008;18:1028-1035. (Pubitemid 352762837)
36. Suzuki N, Yamamoto K. Molecular cloning of pigeon UDP-galactose:β-D- galactoside alpha1,4-galactosyltransferase and UDP-galactose:beta-D-galactoside beta1,4-galactosyltransferase, two novel enzymes catalyzing the formation of Gal alpha1-4Gal beta1-4Gal beta1-4GlcNAc sequence. J Biol Chem. 2010;285(8):5178-5187.
37. Edvardsson L, Dykes J, Olsson ML, Olofsson T. Clonogenicity, gene expression and phenotype during neutrophil versus erythroid differentiation of cytokine-stimulated CD34+ human marrow cells in vitro. Br J Haematol. 2004;127(4):451-463. (Pubitemid 39536599)
38. Brecher ME. AABB Technical Manual, 15th ed. Bethesda, MD: American Association of Blood Banks; 2005.
39. Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Hum Mutat. 2004;23(1):8-16.
40. Qasba PK, Ramakrishnan B, Boeggeman E. Structure and function of beta-1,4-galactosyltransferase. Curr Drug Targets. 2008;9(4):292-309.
41. Hult A, Hellberg A, Wester ES, Olausson P, Storry JR, Olsson ML. Blood group genotype analysis for the quality improvement of reagent test red blood cells. Vox Sang. 2005;88(4):265-270. (Pubitemid 40704900)
42. Tan JS, Mohandas N, Conboy JG. High frequency of alternative first exons in erythroid genes suggests a critical role in regulating gene function. Blood. 2006;107(6):2557-2561. (Pubitemid 43345582)
43. Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet. 2002;3(5):370-379. (Pubitemid 34506718)
44. Hasler J, Samuelsson T, Strub K. Useful 'junk': Alu RNAs in the human transcriptome. Cell Mol Life Sci. 2007;64(14):1793-1800.
45. Thuresson B, Westman JS, Olsson ML. Genetic typing of the P1/P2 histo-blood groups made possible by identification of a novel A4GALT exon [abstract]. Transfusion. 2009;49(3S):48A.
46. Thuresson B, Westman J, Joüd M, Olsson ML. A P1/P2-specific polymorphism found in a novel A4GALT transcript: the missing link between Pk and P1 Histo-blood group antigens [abstract]. Vox Sang. 2010;99(suppl 1):55.
47. Quill E. Blood-matching goes genetic. Science. 2008;319(5869):1478-1479.
48. Avent ND, Martinez A, Flegel WA, et al. The BloodGen project: toward mass-scale comprehensive genotyping of blood donors in the European Union and beyond. Transfusion. 2007;47(suppl 1):40S-46S.
49. Perreault J, Lavoie J, Painchaud P, et al. Set-up and routine use of a database of 10,555 genotyped blood donors to facilitate the screening of compatible blood components for alloimmunized patients. Vox Sang. 2009;97(1):61-68.
50. Varki A, Cummings R, Esko J, Freeze H, Hart G, Marth J. Essentials of Glycobiology. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1999.