A new <i><scp>ABCG2</scp></i> null allele with a 27‐kb deletion including the promoter region causing the <scp>J</scp>r(a−) phenotype

Ogasawara, Kenichi; Osabe, Takahiro; Suzuki, Yumi; Tsuneyama, Hatsue; Isa, Kaoru; Kawai, Masatoshi; Obara, Kumi; Ogiyama, Yoshiko; S, Itó; Uchikawa, Makoto; Satake, Masahiro; Tadokoro, Kenji

doi:10.1111/trf.12969

Cited by 12 publications

(4 citation statements)

References 22 publications

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“…Her ABCG2 null allele with deletion of Exons 3 to 5 appeared not to be common since we did not find it in all the Fy(a–b–) patients we screened by PCR. While large deletions are much rarer than mutations involving one or a few nucleotides, it is important to note that Ogasawara and colleagues recently identified another large deletion in ABCG2 , which includes Exon 1 and the promoter region, in a Jr(a−) blood donor from Japan. Hence, large deletions should be taken into consideration when genotyping Jr(a−) individuals, especially of Japanese or African origin.…”

Section: Results and Conclusionmentioning

confidence: 99%

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a−) phenotype in a West African woman

2015

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Section: Results and Conclusionmentioning

confidence: 99%

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a−) phenotype in a West African woman

2015

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“…Immunoblot analysis of RBC membrane proteins was performed according to the method described previously [8] with a few modifications; an in‐house murine monoclonal anti‐M (2B‐23/CBC‐3) [6] was used as the primary antibody, and 3,3'‐diaminobenzidine (Sigma‐Aldrich Japan) was used as the substrate for horseradish peroxidase.…”

Section: Methodsmentioning

confidence: 99%

An unusual variant glycophorin expressing protease‐resistant M antigen encoded by the GYPB‐E(2‐4)‐B hybrid gene

et al. 2020

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Background and objectives MNS is a highly polymorphic blood group comprising 49 antigens recognized by International Society of Blood Transfusion, some of which may have been generated by genomic recombination among the closely linked genes GYPA, GYPB and GYPE. The GYPE gene has an almost identical sequence to GYPA*01 allele in exon 2 (99% homology), which accounts for M antigen. We investigated an unusual glycophorin molecule with protease-resistant M antigen. Methods Blood samples were screened by an automated blood typing system (PK7300) using bromelain-treated red blood cells (RBCs) and murine monoclonal anti-M. The M-positive RBC samples were analysed by immunoblotting using anti-M as the primary antibody. GYPA, GYPB and GYPE genes were analysed by polymerase chain reaction (PCR), cloning and sequencing using reticulocyte mRNA and genomic DNA. Results Serological tests and immunoblotting revealed that 103 of the 193 009 individuals (0Á0534%) expressed protease-resistant M-active glycophorin having a molecular weight of 20 kDa. All the 103 individuals were S+ s-or S-s+. When reticulocyte mRNA from the individuals with M-active glycophorin (20 kDa) was examined by PCR and cloning followed by sequencing, a novel GYPE-B hybrid transcript was identified. Long-range PCR and sequencing using genomic DNA revealed that the individuals had a GYPB-E(2-4)-B hybrid gene. This hybrid gene was predicted to encode a 59-amino-acid mature glycoprotein that expresses no S or s antigens Conclusions The prevalence of the M-active glycophorin (20 kDa) in the Japanese population is 0Á0534%. This glycophorin is predicted to be a 59 amino acids polypeptide encoded by the novel GYPB-E(2-4)-B hybrid gene.

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“…The rare Jr(a-) phenotype mostly results from recessive inheritance of ABCG2 null alleles caused by frameshift or nonsense changes. 17,[20][21][22] To date, more than 25 different mutations responsible for the absence of ABCG2 as well as mutations giving rise to weakened Jr a expression have been identified. 16…”

Section: Jr Blood Group Systemmentioning

confidence: 99%

Clinical significance of antibodies to antigens in the Raph, John Milton Hagen, I, Globoside, Gill, Rh-associated glycoprotein, FORS, JR, LAN, Vel, CD59, and Augustine blood group systems

Moghaddam

Naghi

2018

Immunohematology

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This article reviews information on the clinical significance of antibodies to antigens in the Raph, John Milton Hagen, I, Globoside, Gill, Rh-associated glycoprotein, FORS, JR, LAN, Vel, CD59, and Augustine blood group systems. Antibodies to many of the antigens in these groups are rarely encountered because of the high prevalence of the associated antigens in most populations. For many of these antibodies, the clinical significance-that is, the potential to cause reduced survival of transfused antigenpositive red blood cells or a transfusion reaction (e.g., anti-P, anti-Jr a , and anti-Lan), and/or hemolytic disease of the fetus and newborn (e.g., anti-RHAG4 and anti-Vel)-has been documented. For other antibodies, their prevalence is so rare that information on the clinical significance of their antibodies is not available (e.g., anti-FORS1). Immunohematology 2018;34:85-90.

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A new ABCG2 null allele with a 27‐kb deletion including the promoter region causing the Jr(a−) phenotype

Abstract: We first identified an ABCG2 null allele (provisional ISBT allele number ABCG2*01N.23) having a large deletion including the promoter region.

Cited by 12 publications

References 22 publications

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a−) phenotype in a West African woman

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a−) phenotype in a West African woman

An unusual variant glycophorin expressing protease‐resistant M antigen encoded by the GYPB‐E(2‐4)‐B hybrid gene

Clinical significance of antibodies to antigens in the Raph, John Milton Hagen, I, Globoside, Gill, Rh-associated glycoprotein, FORS, JR, LAN, Vel, CD59, and Augustine blood group systems

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