New antigen in the Dombrock blood group system, DOYA, ablates expression of Doa and weakens expression of Hy, Joa, and Gya antigens

Mayer, Beate; Thornton, Nicole; Yürek, Salih; Wylie, Dwane E.; Hue‐Roye, Kim; Poole, Joyce; Bartolmäs, Thilo; Salama, Abdulgabar; Lomas‐Francis, Christine; Velliquette, Randall W.; Yazdanbakhsh, Karina; Reid, Marion E.

doi:10.1111/j.1537-2995.2009.02560.x

Cited by 12 publications

(14 citation statements)

References 34 publications

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“…Concerning the localization of the epitope recognized by MIMA‐53, it is interesting to note that the amino acid changes Tyr183Asp and Ile175Asn observed in DO*DOYA and DO*B‐(WL)‐I175N , respectively, are located only 7 amino acids apart in the same loop. A recent report based on results obtained using haemagglutination described a DO*DOYA ‐negative homozygous Turkish Kurd woman in whom the Tyr183Asp change silenced the expected Do a antigen and weakened Holley, Joseph, Gregory and DOMR antigens on RBCs (Mayer et al , ). Flow cytometry analysis showed that this probands' RBCs expressed the Do protein but to a lesser extent than control RBCs (MFI 424 vs. 845 with MIMA‐52) (Mayer et al , ).…”

Section: Discussionmentioning

confidence: 99%

“…Do a (DO1, International Society of Blood Transfusion [ISBT] reference 014001) and Do b (DO2, ISBT 014002), and a total of six high-incidence antigens, i.e. Gy a , Hy, and Jo a , plus the recently described DOYA, DOMR and DOLG antigens (Costa et al, 2010;Mayer et al, 2010;Karamatic Crew et al, 2011). These antigens are carried on the Dombrock glycoprotein (40)(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55)(56)(57)(58) that is attached to the red blood cell (RBC) membrane via glycosylphosphatidylinositol (GPI) linkage (Telen et al, 1990;Spring & Reid, 1991;Spring et al, 1994).…”

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confidence: 99%

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Synonymous nucleotide polymorphisms influence Dombrock blood group protein expression in K562 cells

et al. 2013

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Summary To gain further insight into ART4 (DO) gene alleles (DO*A, DO*JO1, DO*A‐WL, DO*DOYA, DO*B, DO*B‐WL, DO*B‐SH‐Q149K, DO*B‐(WL)‐I175N, DO*HY1, DO*HY2, DO*DOMR) and evaluate the impact of synonymous nucleotide polymorphisms on protein expression and mRNA accumulation of DO*A‐HA, DO*A‐SH and DO*B‐SH alleles, human erythroleukaemic K562 cells were transducted with variant DO‐lentiviral particles and analysed by flow cytometry and quantitative reverse transcription polymerase chain reaction. Monoclonal antibody (MoAb) detection of DO*A‐HA and DO*JO1 transductants was lower than DO*A transductants, while detection of DO*A‐SH, DO*A‐WL and DO*DOYA transductants was higher. Variant DO*B alleles, i.e. DO*B‐SH, DO*B‐WL, DO*HY1, DO*HY2 and DO*DOMR, showed reduced MoAb binding. The unexpected modifications of protein expression of the DO*A‐HA, DO*A‐SH and DO*B‐SH alleles that differ from the DO*A or DO*B alleles by a single synonymous polymorphism were abolished by reversion, thus implying involvement of these polymorphisms. Depending on the Leu208 codon used, detection level ranged from 1 to 4·14. In the variant alleles resulting from single synonymous polymorphism, mRNA accumulation correlated roughly with MoAbs detection levels, suggesting post‐transcriptional regulation. Other than a few reports involving aberrant splicing, the experiments described herein provide the first evidence that synonymous nucleotide polymorphisms can influence Dombrock blood group expression. Such polymorphisms should be taken into account for molecular screening and potential impact on transfusion.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Synonymous nucleotide polymorphisms influence Dombrock blood group protein expression in K562 cells

et al. 2013

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“…Homology modelling predicted that Asp183 infl uences the formation or stability of the Cys182 -Cys123 disulphide bond [45] . She was homozygous for 547T > G in exon 2 of DO * A , encoding Tyr183Asp.…”

Section: Doya ( Do6) Domr ( Do7) and Dolg ( Do8)mentioning

confidence: 99%

“…One anti -Hy has been responsible for an HTR in a man who received two units of Hy + blood [35] . A man with anti -Gy a tolerated 10 units of Gy(a + ) blood with no adverse effect [63] and the patient with anti -DOYA was transfused with 3 units of incompatible blood, without evidence of reduced survival [45] . Anti -Hy was responsible for shortened in vivo red cell survival [36] and anti -Jo a in a sickle cell patient caused signifi cant removal of radiolabelled Jo(a + ) cells compared with Jo(a -) cells [64] .…”

Section: Antibodies To Other Dombrock Antigensmentioning

confidence: 99%

Dombrock Blood Group System

Daniels

2013

Human Blood Groups

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“…The Dombrock blood group system consists of two major antithetical antigens, Do a (DO1, International Society of Blood Transfusion [ISBT] 014001) and Do b (DO2, ISBT 014002), and several high‐incidence antigens, including Hy, Jo a , Gy a , DOYA, DOMR, DOLG, DOLC, and DODE …”

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confidence: 99%

DO/ART4gene sequencing in sub‐Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants

et al. 2019

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BACKGROUND Due to the unavailability of immunological reagents, the Dombrock blood group is insufficiently explored in African populations and can be a source of alloimmunization. A large study including pygmoid and nonpygmoid ethnic groups from East, Central, and West continental Africa, together with African migrants like Comorians, Afro‐Caribbean from Martinique, and Maroons from French Guiana would be helpful to increase transfusion safety. STUDY DESIGN AND METHODS Using genomic DNA extracted from blood samples collected from 336 nonpygmoid and 51 pygmoid Africans as well as 268 samples of African descent, DO coding regions were PCR‐amplified and sequenced. RESULTS DO*A and DO*B alleles were detected in almost all groups, with a clear predominance of DO*B in every cohort tested. DO*JO and DO*HY allele frequencies reached 10% or more in several ethnic groups. DO*B‐SH‐Gln149Lys, DO*B‐Ile5Thr, and DO*DODE variants were identified both in African ethnic groups and outside Africa. Twelve novel variants were characterized on a DO*A or a DO*B background. Five of them were found in both African and migrant cohorts, the others were restricted to either within or outside Africa. No DO*DOYA, DO*DOLG, DO*DOLC, nor DO*DOMR variants were observed. A first phylogenetic tree was proposed including all variant alleles. CONCLUSION This study across continental Africa and countries with African migrants provides a useful overview of Dombrock allele diversity and distribution. The identification of 12 new alleles underlines the importance of genotyping for Dombrock alleles, particularly to improve transfusion safety in countries hosting migrant populations of African descent.

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New antigen in the Dombrock blood group system, DOYA, ablates expression of Do^a and weakens expression of Hy, Jo^a, and Gy^a antigens

Abstract: The patient's DO genes have a single-nucleotide change, which leads to the absence of the high-prevalence antigen DOYA. The absence of this antigen is associated with 183Asp and silencing of Do(a) and weakening of Gy(a), Hy, and Jo(a) antigens.

Cited by 12 publications

References 34 publications

Synonymous nucleotide polymorphisms influence Dombrock blood group protein expression in K562 cells

Synonymous nucleotide polymorphisms influence Dombrock blood group protein expression in K562 cells

Dombrock Blood Group System

DO/ART4gene sequencing in sub‐Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants

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