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A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14.

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  • معلومة اضافية
    • المصدر:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100953417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5470 (Electronic) Linking ISSN: 14664879 NLM ISO Abbreviation: Genes Immun Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: Houndmills, Basingstoke, Hampshire, UK : Nature Pub. Group,
    • الموضوع:
      5' Untranslated Regions* ; Chromosomes, Human, Pair 13*; Histone-Lysine N-Methyltransferase/*genetics ; Immunoglobulin E/*genetics ; Protein Methyltransferases/*genetics; Adolescent ; Adult ; Asthma/enzymology ; Asthma/genetics ; Child ; Electrophoretic Mobility Shift Assay ; Exons ; Female ; Humans ; Immunoglobulin E/blood ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; White People
    • نبذة مختصرة :
      The immunoglobulin E (IgE)-associated locus on human chromosome 13q14 influencing asthma-related traits contains the genes PHF11 and SETDB2. SETDB2 is located in the same linkage disequilibrium region as PHF11 and polymorphisms within SETDB2 have been shown to associate with total serum IgE levels. In this report, we sequenced the 15 exons of SETDB2 and identified a single previously ungenotyped mutation (AT/G, rs386770867) in the 5'-untranslated region of the gene. The polymorphism was found to be significantly associated with serum IgE levels in our asthma cohort (P=0.0012). Electrophoretic mobility shift assays revealed that the transcription factor Ying Yang 1 binds to the AT allele, whereas SRY (Sex determining Region Y) binds to the G allele. Allele-specific transcription analysis (allelotyping) was performed in 35 individuals heterozygous for rs386770867 from a panel of 200 British families ascertained through probands with severe stage 3 asthma. The AT allele was found to be significantly overexpressed in these individuals (P=1.26×10(-21)). A dual-luciferase assay with the pGL3 luciferase reporter gene showed that the AT allele significantly affects transcriptional activities. Our results indicate that the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2.
    • Comments:
      Erratum in: Genes Immun. 2017 Jan;18(1):57. (PMID: 27170559)
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    • Grant Information:
      097117 United Kingdom Wellcome Trust; United Kingdom Medical Research Council
    • الرقم المعرف:
      0 (5' Untranslated Regions)
      37341-29-0 (Immunoglobulin E)
      EC 2.1.1.- (Protein Methyltransferases)
      EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
    • الموضوع:
      Date Created: 20150918 Date Completed: 20160802 Latest Revision: 20221207
    • الموضوع:
      20221213
    • الرقم المعرف:
      PMC4763160
    • الرقم المعرف:
      10.1038/gene.2015.36
    • الرقم المعرف:
      26378653