P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems

Transfusion

Volumn 53, Issue 11 PART 2, 2013, Pages 2928-2939

  Westman, Julia S ^a   Hellberg, Åsa ^a,b   Peyrard, Thierry ^c   Hustinx, Hein ^d   Thuresson, Britt ^a,b   Olsson, Martin L ^a,b  

^a LUND UNIVERSITY   (Sweden)

^b University and Regional Laboratories of Region Skåne ^*  (Sweden)

^c INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^d Blood Transfusion Service SRC Ltd   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

B3GALNT1 PROTEIN, HUMAN; BETA-1,3-N--ACETYLGLUCOSAMINYLTRANSFERASE T3; BLOOD GROUP P SYSTEM; GALACTOSYLTRANSFERASE; GLOBOSIDE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; UDP-GALACTOSE-LACTOSYLCERAMIDE ALPHA 1-4-GALACTOSYLTRANSFERASE; BETA 1,3 N ACETYLGLUCOSAMINYLTRANSFERASE T3; UDP GALACTOSE LACTOSYLCERAMIDE ALPHA 1 4 GALACTOSYLTRANSFERASE;

ALLELE; BLOOD DONOR; BLOOD GROUP P SYSTEM; BLOOD GROUP TYPING; CELL CULTURE; COHORT ANALYSIS; GENE SILENCING; GENETICS; GENOTYPING TECHNIQUE; HUMAN; IMMUNOLOGY; METABOLISM; MOLECULAR GENETICS; PHENOTYPE; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; ARTICLE;

ALLELES; BLOOD DONORS; BLOOD GROUPING AND CROSSMATCHING; CELLS, CULTURED; COHORT STUDIES; GALACTOSYLTRANSFERASES; GENE SILENCING; GENOTYPING TECHNIQUES; GLOBOSIDES; HUMANS; MOLECULAR SEQUENCE DATA; N-ACETYLGALACTOSAMINYLTRANSFERASES; N-ACETYLGLUCOSAMINYLTRANSFERASES; P BLOOD-GROUP SYSTEM; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84893198050     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.12355     Document Type: Article

References (49)

1. Hellberg A, Poole J, Olsson ML. Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-Nacetylgalactosamine: globotriaosylceramide 3-beta-Nacetylgalactosaminyltransferase gene. J Biol Chem 2002; 277: 29455-9.
2. Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/ beta-N-acetyl-galactosamine beta-1,3-galactosyltransferase family. J Biol Chem 1998;273: 12770-8.
3. Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T. 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: 40498-503.
4. Thuresson B, Westman JS, Olsson ML. Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. Blood 2011;117: 678-87.
5. Suzuki N, Yamamoto K. Molecular cloning of pigeon UDP-galactose:beta-D- galactoside alpha1,4- galactosyltransferase and UDP-galactose:beta-Dgalactoside beta1,4-galactosyltransferase, two novel enzymes catalyzing the formation of Gal alpha1-4Gal beta1-4Gal beta1-4GlcNAc sequence. J Biol Chem 2010; 285: 5178-87.
6. Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson SB, Bennett EP, Jersild C, Clausen H. Cloning and expression of the histo-blood group Pk UDPgalactose: Gal-beta1-4Glc-beta1-Cer alpha1,4- galactosyltransferase. Molecular genetic basis of the p phenotype. J Biol Chem 2000;275: 16723-9.
7. Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T. 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: 37752-6.
8. 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: 25315-21.
9. Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, Suzuki Y, Urano T, Ohta M. Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. J Biol Chem 2000;275: 15152-6.
10. Landsteiner K, Levine P. Further observations on individual differences of human blood. Proc Soc Exp Biol Med 1927;24: 941-2.
11. Storry JR, Castilho L, Daniels G, Flegel WA, Garratty G, Francis CL, Moulds JM, Moulds JJ, Olsson ML, Poole J, Reid ME, Rouger P, van der Schoot E, Scott M, Smart E, Tani Y, Yu LC, Wendel S, Westhoff C, Yahalom V, Zelinski T. International Society of Blood TransfusionWorking Party on red cell immunogenetics and blood group terminology: Berlin report. Vox Sang 2011;101: 77-82.
12. Reid ME, Lomas-Francis C, Olsson ML. The blood group antigen factsbook. New York: Elsevier; 2012.
13. Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M. A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. J Biol Chem 2012;287: 38220-30.
14. Daniels GL, Fletcher A, Garratty G, Henry S, Jorgensen J, Judd WJ, Levene C, Lomas-Francis C, Moulds JJ, Moulds JM, Moulds M, Overbeeke M, Reid ME, Rouger P, Scott M, Sistonen P, Smart E, Tani Y, Wendel S, Zelinski T. Blood group terminology 2004: from the International Society of Blood Transfusion committee on terminology for red cell surface antigens. Vox Sang 2004;87: 304-16.
15. Daniels G. Human blood groups. Oxford, UK: Blackwell Scientific; 2002.
16. Lindstrom K, Dem Borne AE, Breimer ME, Cedergren B, Okubo Y, Rydberg L, Teneberg S, Samuelsson BE. Glycosphingolipid expression in spontaneously aborted fetuses and placenta from blood group p women. Evidence for placenta being the primary target for anti-Tjaantibodies. Glycoconj J 1992;9: 325-9.
17. Cantin G, Lyonnais J. Anti-PP1Pk and early abortion. Transfusion 1983;23: 350-1.
18. Lund N, Olsson ML, Ramkumar S, Sakac D, Yahalom V, Levene C, Hellberg A, Ma XZ, Binnington B, Jung D, Lingwood CA, Branch DR. The human P(k) histo-blood group antigen provides protection against HIV-1 infection. Blood 2009;113: 4980-91.
19. Lomberg H, Jodal U, Eden CS, Leffler H, Samuelsson B. P1 blood group and urinary tract infection. Lancet 1981;1: 551-2.
20. Brown KE, Anderson SM, Young NS. Erythrocyte P antigen: cellular receptor for B19 parvovirus. Science 1993;262: 114-7.
21. Lingwood CA, Law H, Richardson S, Petric M, Brunton JL, De Grandis S, Karmali M. Glycolipid binding of purified and recombinant Escherichia coli produced verotoxin in vitro. J Biol Chem 1987;262: 8834-9.
22. Iwamura K, Furukawa K, Uchikawa M, Sojka BN, Kojima Y, Wiels J, Shiku H, Urano T. 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: 44429-38.
23. 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.
24. 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: 198-203.
25. Okuda T, Nakayama K. Identification and characterization of the human Gb3/CD77 synthase gene promoter. Glycobiology 2008;18: 1028-35.
26. Wang Y, Lin K, Lin K, Hung C, Lin T. P1/P2 genotype screening in Southern Taiwan. Transfusion 2012;52 Suppl 3S:161A (SP286).
27. Mourant AE, Kope AC, Domaniewska K. The distribution of human blood groups and other polymorphisms. Oxford: Oxford University Press; 1976.
28. Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems. Nucleic Acids Res 2012; 40(Database issue):D1023-9.
29. Hellberg Å, Steffensen R, Yahalom V, Sojka BN, Heier HE, Levene C, Poole J, Olsson ML. Additional molecular bases of the clinically important p blood group phenotype. Transfusion 2003;43: 899-907.
30. 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: 479-87.
31. Koda Y, Soejima M, Sato H, Maeda Y, Kimura H. Threebase deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the p phenotype. Transfusion 2002;42: 48-51.
32. Yan L, Zhu F, Xu X, Zantek ND. Molecular basis for p blood group phenotype in China. Transfusion 2004;44: 136-8.
33. Levine P, Bobbitt OB, Waller RK, Kuhmichel A. Isoimmunization by a new blood factor in tumor cells. Proc Soc Exp Biol Med 1951;77: 403-5.
34. Sanger R. An association between the P and Jay systems of blood groups. Nature 1955;176: 1163-4.
35. Naiki M, Marcus DM. Human erythrocyte P and Pk blood group antigens: identification as glycosphingolipids. Biochem Biophys Res Commun 1974;60: 1105-11.
36. Fletcher KS, Bremer EG, Schwarting GA. P blood group regulation of glycosphingolipid levels in human erythrocytes. J Biol Chem 1979;254: 11196-8.
37. Hellberg A, 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: 528-36.
38. De La Vega Elena CD, Hellberg A, Bonetti S, Gonzalez CA, Chialina S, Raillon MA, Pivetta MA, Solis EA, Olsson ML. [A rare blood group: p phenotype]. Medicina 2009;69: 651-4.
39. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
40. Brecher ME. AABB technical manual. Bethesda (MD): American Association of Blood Banks; 2005.
41. Spitalnik PF, Spitalnik SL. The P blood group system: biochemical, serological, and clinical aspects. Transfus Med Rev 1995;9: 110-22.
42. Cedergren B. Population studies in northern Sweden. IV. Frequency of the blood type p. Hereditas 1973;73: 27-30.
43. Nakajima T, Sano R, Takahashi Y, Kubo R, Takahashi K, Kominato Y, Tsukada J, Takeshita H, Yasuda T, Uchikawa M, Isa K, Ogasawara K. Mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a B subgroup individual. Transfusion 2013;53: 2917-27.
44. Li L, Freudenberg J, Cui K, Dale R, Song SH, Dean A, Zhao K, Jothi R, Love PE. Ldb1-nucleated transcription complexes function as primary mediators of global erythroid gene activation. Blood 2013;121: 4575-85.
45. Paulson JC, Colley KJ. Glycosyltransferases. Structure, localization, and control of cell type-specific glycosylation. J Biol Chem 1989;264: 17615-8.
46. Kervestin S, Jacobson A. NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 2012;13: 700-12.
47. Yamamoto F, McNeill PD, Yamamoto M, Hakomori S, Bromilow IM, Duguid JK. Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. Vox Sang 1993;64: 175-8.
48. Kundu SK, Steane SM, Bloom JE, Marcus DM. Abnormal glycolipid composition of erythrocytes with a weak P antigen. Vox Sang 1978;35: 160-7.
49. Kundu SK, Evans A, Rizvi J, Glidden H, Marcus DM. A new Pk phenotype in the P blood group system. J Immunogenet 1980;7: 431-9.