Transcriptional Downregulation by Nucleotide Substitution with the Minor Allele of rs3760776 Located in the Promoter of FUT6 Gene

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• 作者：Hyunju Ryoo ; Jihye Ryu ; Chaeyoung Lee
• 关键词：Electrophoretic mobility shift assay ; FUT6 ; N ; glycan ; Promoter activity ; Single nucleotide variant
• 刊名：Biochemical Genetics
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：53
• 期：4-6
• 页码：72-78
• 全文大小：850 KB
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• 作者单位：Hyunju Ryoo (1)
  Jihye Ryu (1)
  Chaeyoung Lee (1)
  
  1. School of Systems Biomedical Science, Soongsil University, 511 Sangdo-dong, Dongjak-gu, Seoul, Korea
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Biochemistry
  Zoology
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-4927

文摘

We examined the promoter activity of an association signal in an upstream region of the gene encoding fucosyltransferae 6 (FUT6) identified from a recent genomewide association study for the N-glycan level. The luciferase assay using reporter constructs with T and C alleles at rs3760776 revealed differential promoter activity. The amount of luciferin expressed with the C allele corresponded to that without the reporter construct (P?>?0.05). On the other hand, the expression was dramatically reduced with the T allele (P?<?0.05). The difference in transcriptional activity between the two alleles was confirmed by an electrophoretic mobility shift assay. It demonstrated that the promoter with a T allele had a stronger binding affinity to nuclear factors than that with the C allele. We concluded that the T allele of rs3760776 might repress the transcription of the FUT6 gene. Further studies are warranted to understand its underlying mechanism and its influence on susceptibility to potential diseases.