The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1
碩士 === 國立臺灣大學 === 生化科學研究所 === 105 === The P1/P2 phenotypic polymorphism is one of the earliest blood groups discovered in humans. These blood groups have been connected to presence of different levels of expression of the A4GALT gene in P1 and P2 red cells; however, the detailed molecular genetic me...
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ndltd-TW-105NTU051030252019-05-15T23:39:40Z http://ndltd.ncl.edu.tw/handle/4rdrvp The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 轉錄因子EGR1調控P1-及P2-A4GALT血型基因型的差異性表現 Yi-Jui Tsai 蔡易叡 碩士 國立臺灣大學 生化科學研究所 105 The P1/P2 phenotypic polymorphism is one of the earliest blood groups discovered in humans. These blood groups have been connected to presence of different levels of expression of the A4GALT gene in P1 and P2 red cells; however, the detailed molecular genetic mechanism that leads to these two phenotypes has not been established. Following our previous identification of an association between the SNPs rs2143918 and rs5751348 in A4GALT gene and the P1/P2 phenotype, we conduct a survey of transcription factors that might connect these SNPs with the differential expression of the P1-A4GALT and P2-A4GALT alleles. An in silico analysis of potential transcription factor binding motifs within the polymorphic rs2143918 and rs5751348 genomic regions was performed, and this was followed by reporter assays examining the candidate transcription factors, gene expression profiling, electrophoretic mobility shift assays, and P1-A4GALT and P2-A4GALT allelic expression analysis. The results revealed that the differential binding of transcription factor EGR1 to the polymorphic SNP rs5751348 genomic region leads to differential activation of P1-A4GALT and P2-A4GALT expression and this consequently results in the quantitative difference of P1 antigen expression levels in P1 and P2 red cells. The present investigation has elucidated the molecular genetic details associated with the P1/P2 blood groups and revealing the first human blood group whose formation involves the transcriptional activity of a specific transcription factor and its interaction with genetic polymorphism within the gene regulatory region. 余榮熾 2017 學位論文 ; thesis 35 zh-TW |
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碩士 === 國立臺灣大學 === 生化科學研究所 === 105 === The P1/P2 phenotypic polymorphism is one of the earliest blood groups discovered in humans. These blood groups have been connected to presence of different levels of expression of the A4GALT gene in P1 and P2 red cells; however, the detailed molecular genetic mechanism that leads to these two phenotypes has not been established. Following our previous identification of an association between the SNPs rs2143918 and rs5751348 in A4GALT gene and the P1/P2 phenotype, we conduct a survey of transcription factors that might connect these SNPs with the differential expression of the P1-A4GALT and P2-A4GALT alleles. An in silico analysis of potential transcription factor binding motifs within the polymorphic rs2143918 and rs5751348 genomic regions was performed, and this was followed by reporter assays examining the candidate transcription factors, gene expression profiling, electrophoretic mobility shift assays, and P1-A4GALT and P2-A4GALT allelic expression analysis.
The results revealed that the differential binding of transcription factor EGR1 to the polymorphic SNP rs5751348 genomic region leads to differential activation of P1-A4GALT and P2-A4GALT expression and this consequently results in the quantitative difference of P1 antigen expression levels in P1 and P2 red cells. The present investigation has elucidated the molecular genetic details associated with the P1/P2 blood groups and revealing the first human blood group whose formation involves the transcriptional activity of a specific transcription factor and its interaction with genetic polymorphism within the gene regulatory region.
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余榮熾 |
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余榮熾 Yi-Jui Tsai 蔡易叡 |
author |
Yi-Jui Tsai 蔡易叡 |
spellingShingle |
Yi-Jui Tsai 蔡易叡 The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
author_sort |
Yi-Jui Tsai |
title |
The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
title_short |
The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
title_full |
The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
title_fullStr |
The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
title_full_unstemmed |
The differential expression of blood group P1-and P2-A4GALT alleles is stimulated by transcription factor EGR1 |
title_sort |
differential expression of blood group p1-and p2-a4galt alleles is stimulated by transcription factor egr1 |
publishDate |
2017 |
url |
http://ndltd.ncl.edu.tw/handle/4rdrvp |
work_keys_str_mv |
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