PMID- 26378653
OWN - NLM
STAT- MEDLINE
DCOM- 20160802
LR  - 20221207
IS  - 1476-5470 (Electronic)
IS  - 1466-4879 (Print)
IS  - 1466-4879 (Linking)
VI  - 16
IP  - 7
DP  - 2015 Oct
TI  - A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE 
      locus on human chromosome 13q14.
PG  - 488-94
LID - 10.1038/gene.2015.36 [doi]
AB  - 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=1.26x10(-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.
FAU - Holt, R J
AU  - Holt RJ
AD  - Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
FAU - Vandiedonck, C
AU  - Vandiedonck C
AD  - Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
FAU - Willis-Owen, S A
AU  - Willis-Owen SA
AD  - Molecular Genomics and Genetics Group, National Heart and Lung Institute, 
      Imperial College London, London, UK.
FAU - Knight, J C
AU  - Knight JC
AD  - Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
FAU - Cookson, W O
AU  - Cookson WO
AD  - Molecular Genomics and Genetics Group, National Heart and Lung Institute, 
      Imperial College London, London, UK.
FAU - Moffatt, M F
AU  - Moffatt MF
AD  - Molecular Genomics and Genetics Group, National Heart and Lung Institute, 
      Imperial College London, London, UK.
FAU - Zhang, Y
AU  - Zhang Y
AD  - Molecular Genomics and Genetics Group, National Heart and Lung Institute, 
      Imperial College London, London, UK.
LA  - eng
GR  - 097117/Wellcome Trust/United Kingdom
GR  - Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150917
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (5' Untranslated Regions)
RN  - 37341-29-0 (Immunoglobulin E)
RN  - EC 2.1.1.- (Protein Methyltransferases)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
EIN - Genes Immun. 2017 Jan;18(1):57. PMID: 27170559
MH  - *5' Untranslated Regions
MH  - Adolescent
MH  - Adult
MH  - Asthma/enzymology/genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 13
MH  - Electrophoretic Mobility Shift Assay
MH  - Exons
MH  - Female
MH  - Histone-Lysine N-Methyltransferase/*genetics
MH  - Humans
MH  - Immunoglobulin E/blood/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Protein Methyltransferases/*genetics
MH  - White People
PMC - PMC4763160
EDAT- 2015/09/18 06:00
MHDA- 2016/08/03 06:00
PMCR- 2016/02/23
CRDT- 2015/09/18 06:00
PHST- 2015/06/17 00:00 [received]
PHST- 2015/07/15 00:00 [revised]
PHST- 2015/07/22 00:00 [accepted]
PHST- 2015/09/18 06:00 [entrez]
PHST- 2015/09/18 06:00 [pubmed]
PHST- 2016/08/03 06:00 [medline]
PHST- 2016/02/23 00:00 [pmc-release]
AID - gene201536 [pii]
AID - 10.1038/gene.2015.36 [doi]
PST - ppublish
SO  - Genes Immun. 2015 Oct;16(7):488-94. doi: 10.1038/gene.2015.36. Epub 2015 Sep 17.