2000 Fiscal Year Final Research Report Summary
Molecular genetical analysis of the epitopes on Rh blood group antigen and establishment of genetic examination system in RH genes.
| Project/Area Number |
11557036
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| Research Category |
Grant-in-Aid for Scientific Research (B).
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| Allocation Type | Single-year Grants |
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| Section | 展開研究 |
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| Research Field |
Legal medicine
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| Research Institution | Jichi Medical School |
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Principal Investigator |
KAJII Eiji Jichi Medical School, Dept. of Medicine, Professor, 医学部, 教授 (40204391)
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| Co-Investigator(Kenkyū-buntansha) |
OMI Toshnori Jichi Medical School, Dept. of Medicine, Assist. Professor, 医学部, 助手 (40296091)
OKUDA Hiroshi Jichi Medical School, Dept. of Medicine, Assos. Professor, 医学部, 助教授 (50285772)
IWAMOTO Sadahiko Jichi Medical School, Dept. of Medicine, Assos. Professor, 医学部, 助教授 (10232711)
KUMADA Maki Jichi Medical School, Dept. of Medicine, Assist. Professor, 医学部, 助手 (40326830)
KAMESAKI Toyomi Jichi Medical School, Dept. of Medicine, Assist. Professor, 医学部, 助手 (90316513)
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| Project Period (FY) |
1999 – 2000
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| Keywords | Rh blood system / RH gene / RHAG gene / promoter / enhancer / epitope / variant / genetic analysis |
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| Research Abstract |
We determined the entire nucleotide sequences of both RHD and RHCE genes. Based on the data of these nucleotide sequences, we analyzed the genomic structure of both RH genes in detail. Various short tandem repeats (STRs) and many interspersed nuclear elements, for instance, Alu sequences were identified in both genes. By the alignment analysis of both RH genes, we confirmed multiple recombinations within 2〜3kb in introns 1 and 2. It was speculated that intron 2 in the RHCE (C) gene was produced by two recombinations between RHCE (c) and RHD genes and the following insertion of Alu-Sx.
It was supported that Rh50 glycoprotein, which constituted the core of the Rh complex along with Rh polypeptide, showed the erythroid-specific expression. For the purpose of explaining the mechanism of the regulation for the expression in the RHAG gene, we identified and cloned an erythroid specific major DNaseI hypersensitive site (HS). HS located about 10kb upstream from the translation start site of the RHAG gene. A short core enhancer sequence of 195bp that corresponded with the major HS and possessed position- and orientation-independent enhancer activity in K562 cells. Homology plot analysis indicated that the enhancer region was conserved in human and mouse. The GATA motifs bound GATA-1 and mutagenesis analysis revealed that the proximal one is critical for the enhancing activity.
In Rh blood system, molecular genetical analysis of various Rh variants smoothly developed. As for partial D variant, we were able to identify new type. Furthermore we proved that weak D variant possessed the qualitative and quantitative change of the RhD antigen.
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[Publications] Fujiwara H, Okuda H, Omi T, Iwamoto S, Tanaka Y, Takahashi J, Tani Y, Minakami H, Araki S, Sato I, Kajii E.: "The STR polymorphisms in intron 8 may provide information about the molecular evolution of RH haplotypes."Hum Genet. 104. 301-306 (1999)
Description
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