The ABO-blood group genotype in Japanese determined by polymerase chain reaction (PCR) using genomic DNA.

正幸, 島; 拓也, 西村; 章, 吉岡; 弘, 福井; 幸世, 西田; 智美, 辻内; 吉博, 藤村

doi:10.3925/jjtc1958.38.542

Cited by 3 publications

(3 citation statements)

References 5 publications

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“…In sharp contrast, the ABO transcript was barely detected in MKN28 cells, Jurkat cells, and T98G cells, whereas the intensities of the control G3PDH transcripts were similar to those observed in the other cells expressing ABO transcripts. As shown in Table I, A-transferase activity was not detectable in Jurkat cells whose ABO genotype was determined to be AO by PCR restriction fragment length polymorphism (PCR-RFLP) (35). The expression status of the ABO genes in Jurkat and T98G cells appeared to reflect the characteristics of cell types where these cell lines were derived, T-lymphocytes and glial cells, respectively.…”

Section: Resultsmentioning

confidence: 99%

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Kominato¹,

Hata²,

Takizawa³

et al. 1999

Journal of Biological Chemistry

100

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We have investigated the regulatory role of DNA methylation in the expression of the human histo-blood group ABO genes. The ABO gene promoter region contains a CpG island whose methylation status correlates well with gene expression in the cell lines tested. The CpG island was found hypomethylated in some cell lines that expressed ABO genes, whereas the other cell lines that did not express ABO genes were hypermethylated. The ABO blood group system discovered by Karl Landsteiner (1) at the beginning of this century is of great importance in blood transfusions and organ transplantations. Two carbohydrate antigens, A-and B-antigens, and their antibodies constitute this system. The A and B functional alleles at the ABO genetic locus encode glycosyltransferases ␣133GalNAc transferase (designated A-transferase) and ␣133Gal transferase (designated B-transferase), respectively. A-transferase transfers a GalNAc residue from UDP-GalNAc to the precursor H substrate, producing A antigens as defined by the trisaccharide determinant structure, GalNAc␣133(Fuc␣132)Gal␤13 R. Similarly, B-transferase catalyzes the transfer of a Gal from UDP-Gal to the same H substrate, producing B antigens defined by Gal␣133(Fuc␣132)Gal␤13 R (2-5). Molecular genetic studies of the human ABO genes have identified two critical single base substitutions that result in amino acid substitutions responsible for the different donor nucleotidesugar substrate specificity between A-and B-transferases. A single base deletion, which shifts the reading frame of codons and abolishes the function of A-transferase, has been identified in most O alleles (6, 7).The ABO genes are expressed in a cell type-specific manner; the isoantigens A, B, and H of blood groups A, B, and O are not confined to red cells only but are also found in most secretions and on some epithelial cells. However, they are absent in connective tissues and the central nervous system (8). ABH antigens are known to undergo drastic changes during development, differentiation, and maturation of normal cells (9). In addition to these physiological processes, profound changes have also been documented in pathological processes such as tumorigenesis. Reduction or complete deletion of A/B antigen expression in bladder and oral cancers has been documented, as well as the apparent onco-developmental expression of the ABH antigens in gastric and distal colon tumors (10 -12). Moreover, the loss of ABH antigens has been correlated with tumor progression of various carcinomas including lung and bladder carcinomas (13-16). Thus, delineation of regulatory mechanism is essential to understand these complicated expression patterns of the ABO genes.In an initial attempt to elucidate the molecular mechanism controlling the expression of the human ABO genes, we isolated several genomic clones that covered the ABO genes over 18 kb 1 (17). A 4.7-kb EcoRI/NcoI 5Ј-upstream fragment flanking the coding sequence in exon 1 of the human ABO gene was subcloned into the promoterless pGL3-basic vector upstream of the lucifer...

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Section: Resultsmentioning

confidence: 99%

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Kominato¹,

Hata²,

Takizawa³

et al. 1999

Journal of Biological Chemistry

100

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“…Polymerase chain reaction (PCR)8 and 9 were carried out according to the method described by Shima and colleagues . For PCR10, genomic DNA (100 ng) was mixed in a 50‐μL final volume containing 1× buffer with DNA polymerase (PrimeSTAR GXL, TaKaRa, Shiga, Japan), 0.2 mmol/L dNTP, and 0.2 μmol/L each primer.…”

Section: Methodsmentioning

confidence: 99%

Mutation of the GATA site in the erythroid cell–specific regulatory element of the ABO gene in a B_m subgroup individual

et al. 2013

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“…The ABO genotype was also determined by restriction fragmentlength polymorphism of PCR8 and PCR9. 22 …”

Section: Pcrmentioning

confidence: 99%

Expression of ABO blood-group genes is dependent upon an erythroid cell–specific regulatory element that is deleted in persons with the Bm phenotype

Sano

Nakajima

Takahashi

et al. 2012

Blood

126

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The ABO blood group is of great importance in blood transfusion and organ transplantation. However, the mechanisms regulating human ABO gene expression remain obscure. On the basis of DNase I-hypersensitive sites in and upstream of ABO in K562 cells, in the present study, we prepared reporter plasmid constructs including these sites. Subsequent luciferase assays indicated a novel positive regulatory element in intron 1. This element was shown to enhance ABO promoter activity in an erythroid cellspecific manner. Electrophoretic mobilityshift assays demonstrated that it bound to the tissue-restricted transcription factor GATA-1. Mutation of the GATA motifs to abrogate binding of this factor reduced the regulatory activity of the element. Therefore, GATA-1 appears to be involved in the cell-specific activity of the element.

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The ABO-blood group genotype in Japanese determined by polymerase chain reaction (PCR) using genomic DNA.

Cited by 3 publications

References 5 publications

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Mutation of the GATA site in the erythroid cell–specific regulatory element of the ABO gene in a B_m subgroup individual

Expression of ABO blood-group genes is dependent upon an erythroid cell–specific regulatory element that is deleted in persons with the Bm phenotype

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The ABO-blood group genotype in Japanese determined by polymerase chain reaction (PCR) using genomic DNA.

Cited by 3 publications

References 5 publications

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Expression of Human Histo-blood Group ABO Genes Is Dependent upon DNA Methylation of the Promoter Region

Mutation of the GATA site in the erythroid cell–specific regulatory element of the ABO gene in a Bm subgroup individual

Expression of ABO blood-group genes is dependent upon an erythroid cell–specific regulatory element that is deleted in persons with the Bm phenotype

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Mutation of the GATA site in the erythroid cell–specific regulatory element of the ABO gene in a B_m subgroup individual