| Project/Area Number |
25460861
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Legal medicine
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| Research Institution | Gunma University |
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Principal Investigator |
Nakajima Tamiko 群馬大学, 医学(系)研究科(研究院), 研究員 (40008561)
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| Co-Investigator(Kenkyū-buntansha) |
KOMINATO Yoshihiko 群馬大学, 大学院医学系研究科, 教授 (30205512)
SANO Rie 群馬大学, 大学院医学系研究科, 講師 (70455955)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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| Keywords | ABO遺伝子 / 転写因子 / 転写調節 / エンハンサー / 血液型亜型 / 遺伝子発現 / ハプロタイプ / 変異型 / エンハンサ－ |
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| Outline of Final Research Achievements |
Recently, we have identified an erythroid cell-specific regulatory element (+5.8-kb site) in the first intron of the human ABO blood group gene. In this study, we have concluded that Bm is caused by a reduction of B gene expression in bone marrow cells by in vitro erythroid culture of Bm-derived CD34+ cells. A 5.8-kb or 3.0-kb deletion including the +5.8-kb site was observed Bm and ABm individuals. Moreover, RUNX1, GATA-1 and GATA-2 are bound to the site through their recognition motifs, deletion or mutation of which were involved in subgroups Am, Bm and A3. Genetic studies of common ABO phenotype of Japanese have demonstrated six haplotypes of the +5.8-kb site consists of six SNPs. Each haplotype was mostly linked with specific ABO alleles with a few exceptions, possibly as a result of hybrid formation between common ABO alleles.
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