Science Links Japan | Deletion of Dinucleotide Repeat (.DELTA.14 Allele) in the Methylthioadenosine Phosphorylase (MTAP) Promoter and the Allelotype of MTAP Promoter in the Japanese Population.

Deletion of Dinucleotide Repeat (.DELTA.14 Allele) in the Methylthioadenosine Phosphorylase (MTAP) Promoter and the Allelotype of MTAP Promoter in the Japanese Population.

Accession number;02A0429124

Title;Deletion of Dinucleotide Repeat (.DELTA.14 Allele) in the Methylthioadenosine Phosphorylase (MTAP) Promoter and the Allelotype of MTAP Promoter in the Japanese Population.

Author; KADARIYA Y (Mie Univ. Fac. Medicine, Mie) NISHIOKA J (Mie Univ. Fac. Medicine, Mie) NAKATANI K (Mie Univ. Fac. Medicine, Mie) NAKASHIMA K (Mie Univ. Fac. Medicine, Mie) NOBORI T (Mie Univ. Fac. Medicine, Mie)

Journal Title;Jpn J Cancer Res

Journal Code:F0633A

ISSN:0910-5050

VOL.93;NO.4;PAGE.369-373(2002)

Figure&Table&Reference;FIG.3, TBL.1, REF.19

Pub. Country;Japan

Language;English

Abstract;5'-Deoxy-5'-methylthioadenosine phosphorylase(MTAP) is an enzyme involved in purine and polyamine metabolism and is ubiquitously expressed in normal human tissues and cells. However, this enzyme has been found to be deficient in a variety of human cancers. Although the enzyme deficiency is known to be caused by MTAP gene deletion, human diffuse histiocytic lymphoma cell line DHL-9 without any detectable MTAP activity has been found to possess the intact MTAP gene. These lines of evidence suggested that promoter abnormality might cause the MTAP deficiency in DHL-9. Therefore, we analyzed the MTAP promoter region of DHL-9 and found the deletion of 14 bases in its sequence. We designated the allele lacking (GT)6GC as dinucleotide repeat deletion (.DELTA.14 allele) and determined the effect of the .DELTA.14 allele on the MTAP promoter activity by a luciferase reporter assay. We have also analyzed the distribution of the .DELTA.14 allele and wild-type(WT) allele in the Japanese population by PCR assay. A reporter plasmid harboring the .DELTA.14 allele exhibited luciferase activity comparable to that of a plasmid containing the WT allele. Forty-six (22%) out of 210 people were homozygous for WT allele in the MTAP promoter, whereas 43 (20.5%) were homozygous for .DELTA.14 allele. The remaining 121 people (57.5%) possessed .DELTA.14/WT alleles in the MTAP promoter region. These results indicated that the .DELTA.14 allele has nothing to do with MTAP deficiency in DHL-9. The .DELTA.14 allele is distributed among the general population irrespective of gender. (author abst.)

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