Elucidation of the transcriptional regulation based on identification of the ABO gene enhancer

2015 Fiscal Year Final Research Report

• Project/Area Number: 25460861
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Gunma University
• Principal Investigator: Nakajima Tamiko 群馬大学, 医学(系)研究科(研究院), 研究員 (40008561)
• 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)
• Project Period (FY): 2013-04-01 – 2016-03-31
• 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

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.

Free Research Field

法医学分野