A novel Bweak hybrid allele lacks three enhancer repeats but generates normal ABO transcript levels

Vox Sanguinis

Volumn 102, Issue 1, 2012, Pages 55-64

  Thuresson, B ^a,b   Hosseini Maaf, B ^a,b   Hult, A K ^a,b   Hustinx, H ^c   Alan Chester, M ^a   Olsson, M L ^a,b  

^a LUND UNIVERSITY   (Sweden)

^b University and Regional Laboratories ^*  (Sweden)

^c The Blood Transfusion Service (Swiss Red Cross)   (Switzerland)

Author keywords

ABO; Blood group; Genetics; Immunohaematology; RBC antigen and antibodies; Transcription

Indexed keywords

ARGININE; BLOOD GROUP B ANTIGEN; CCAAT BINDING FACTOR; GLYCOSYLTRANSFERASE; LEUCINE; NUCLEAR FACTOR Y;

5' UNTRANSLATED REGION; ALLELE; AMINO ACID SUBSTITUTION; ANTIGEN EXPRESSION; ARTICLE; BLOOD GROUP ABO SYSTEM; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; FLOW CYTOMETRY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENOTYPE; HELA CELL; HUMAN; HUMAN CELL; INTRON; MUTAGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; SEROLOGY;

ABO BLOOD-GROUP SYSTEM; ALLELES; ANTIBODIES; ANTIGENS; ENHANCER ELEMENTS, GENETIC; ERYTHROCYTES; ERYTHROID CELLS; EXONS; GENOTYPE; HELA CELLS; HEMATOLOGY; HUMANS; IMMUNE SYSTEM; INTRONS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC;

EID: 84655162164     PISSN: 00429007     EISSN: 14230410     Source Type: Journal    
DOI: 10.1111/j.1423-0410.2011.01497.x     Document Type: Article

References (39)

1. Storry JR, Olsson ML: The ABO blood group system revisited: a review and update. Immunohematology 2009; 25:48-59.
2. Hosseini-Maaf B, Hellberg A, Rodrigues MJ, et al. ABO Exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase. BMC Genet 2003; 4:17.
3. Seltsam A, Blasczyk R: Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes. Transfusion 2005; 45:1663-1669.
4. Kominato Y, Hata Y, Takizawa H, et al. Alternative promoter identified between a hypermethylated upstream region of repetitive elements and a CpG island in human ABO histo-blood group genes. J Biol Chem 2002; 277:37936-37948.
5. Hata Y, Kominato Y, Yamamoto FI, et al. Characterization of the human ABO gene promoter in erythroid cell lineage. Vox Sang 2002; 82:39-46.
6. Kominato Y, Tsuchiya T, Hata N, et al. Transcription of human ABO histo-blood group genes is dependent upon binding of transcription factor CBF/NF-Y to minisatellite sequence. J Biol Chem 1997; 272:25890-25898.
7. Irshaid NM, Chester MA, Olsson ML: Allele-related variation in minisatellite repeats involved in the transcription of the blood group ABO gene. Transfus Med 1999; 9:219-226.
8. Kominato Y, Hata Y, Matsui K, et al. Transcriptional regulation of the human ABO histo-blood group genes is dependent on the N box upstream of the proximal promoter. Transfusion 2004; 44:1741-1749.
9. Kominato Y, Hata Y, Takizawa H, et al. Expression of human histo-blood group ABO genes is dependent upon DNA methylation of the promoter region. J Biol Chem 1999; 274:37240-37250.
10. Bennett EP, Steffensen R, Clausen H, et al. Genomic cloning of the human histo-blood group ABO locus. Biochem Biophys Res Commun 1995; 206:318-325.
11. Shimada I, Kominato Y, Hata N, et al. DNA polymorphisms in the 5'-flanking sequence of human ABO blood group genes and their association with the alleles for the common ABO phenotypes. Leg Med (Tokyo) 1999; 1:217-225.
12. Yu LC, Chang CY, Twu YC, et al. Human histo-blood group ABO glycosyltransferase genes: different enhancer structures with different transcriptional activities. Biochem Biophys Res Commun 2000; 273:459-466.
13. Seltsam A, Wagner FF, Gruger D, et al. Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene. Transfusion 2007; 47:2330-2335.
14. Twu YC, Hsieh CY, Yu LC: Expression of the histo-blood group B gene predominates in AB-genotype cells. Transfusion 2006; 46:1988-1996.
15. Thuresson B, Chester MA, Storry JR, et al. ABO Transcript levels in peripheral blood and erythropoietic culture show different allele-related patterns independent of the CBF/NF-Y enhancer motif and multiple novel allele-specific variations in the 5'- and 3'-noncoding regions. Transfusion 2008; 48:493-504.
16. Olsson ML, Chester MA: A rapid and simple ABO genotype screening method using a novel B/O 2 versus A/O 1 discriminating nucleotide substitution at the ABO locus. Vox Sang 1995; 69:242-247.
17. Hosseini-Maaf B, Hellberg A, Chester MA, et al. An extensive PCR-ASP strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup and hybrid alleles. Transfusion 2007; 47:2110-2125.
18. 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; 23:8-16.
19. Olsson ML, Irshaid NM, Hosseini-Maaf B, et al. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. Blood 2001; 98:1585-1593.
20. Hult AK, Olsson ML: Many genetically defined ABO subgroups exhibit characteristic flow cytometric patterns. Transfusion 2010; 50:308-323.
21. Seltsam A, Hallensleben M, Kollmann A, et al. The nature of diversity and diversification at the ABO locus. Blood 2003; 102:3035-3042.
22. Hosseini-Maaf B, Letts JA, Persson M, et al. Structural basis for red cell phenotypic changes in newly identified, naturally occurring subgroup mutants of the human blood group B glycosyltransferase. Transfusion 2007; 47:864-875.
23. Hult AK, Yazer MH, Jorgensen R, et al. Weak A phenotypes associated with novel ABO alleles carrying the A2-related 1061C deletion and various missense substitutions. Transfusion 2010; 50:1471-1486.
24. Ogasawara K, Yabe R, Uchikawa M, et al. Molecular genetic analysis of variant phenotypes of the ABO blood group system. Blood 1996; 88:2732-2737.
25. Suzuki K, Iwata M, Tsuji H, et al. A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products. Hum Genet 1997; 99:454-461.
26. Olsson ML, Guerreiro JF, Zago MA, et al. Molecular analysis of the O alleles at the blood group ABO locus in populations of different ethnic origin reveals novel crossing-over events and point mutations. Biochem Biophys Res Commun 1997; 234:779-782.
27. Olsson ML, Chester MA: Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. Transfus Med 1998; 8:231-238.
28. Hosseini-Maaf B, Smart E, Chester MA, et al. The Abantu phenotype in the ABO blood group system is due to a splice-site mutation in a hybrid between a new O1-like allelic lineage and the A2 allele. Vox Sang 2005; 88:256-264.
29. Yazer MH, Olsson ML: The O2 allele: questioning the phenotypic definition of an ABO allele. Immunohematology 2008; 24:138-147.
30. Grunnet N, Steffensen R, Bennett EP, et al. Evaluation of histo-blood group ABO genotyping in a Danish population: frequency of a novel O allele defined as O2. Vox Sang 1994; 67:210-215.
31. Yazer MH, Hult AK, Hellberg A, et al. Investigation into A antigen expression on O2 heterozygous group O-labeled red blood cell units. Transfusion 2008; 48:1650-1657.
32. Hosseini-Maaf B, Irshaid NM, Hellberg A, et al. New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. Transfusion 2005; 45:70-81.
33. Seltsam A, Das Gupta C, Wagner FF, et al. Nondeletional ABO*O alleles express weak blood group A phenotypes. Transfusion 2005; 45:359-365.
34. Yamamoto F, Clausen H, White T, et al. Molecular genetic basis of the histo-blood group ABO system. Nature 1990; 345:229-233.
35. 2 Gene and its protein product. Vox Sang 2000; 79:219-226.
36. Seltsam A, Gruger D, Just B, et al. Aberrant intracellular trafficking of a variant B glycosyltransferase. Transfusion 2008; 48:1898-1905.
37. 2 glycosyltransferase. J Biol Chem 2005; 280:525-529.
38. Yamamoto F, McNeill PD: Amino acid residue at codon 268 determines both activity and nucleotide-sugar donor substrate specificity of human histo-blood group A and B transferases. In vitro mutagenesis study. J Biol Chem 1996; 271:10515-10520.
39. Yamamoto F, McNeill PD, Yamamoto M, et al. Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. Vox Sang 1993; 64:175-178.