Imperial College London
Alternate

DrYoumingZhang

Faculty of Medicine, National Heart & Lung Institute

Lecturer (non-clinical) in Respiratory Genomics
 
 
 
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Contact

 

+44 (0)20 7594 7974y.zhang

 
 
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Location

 

413Guy Scadding BuildingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Holt:2015:10.1038/gene.2015.36,
author = {Holt, RJ and Vandiedonck, C and Willis-Owen, SA and Knight, JC and Cookson, WO and Moffatt, MF and Zhang, Y},
doi = {10.1038/gene.2015.36},
journal = {Genes and Immunity},
pages = {488--494},
title = {A functional AT/G polymorphism in the 5'-untranslated region (UTR) of SETDB2 in the IgE locus on human chromosome 13q14},
url = {http://dx.doi.org/10.1038/gene.2015.36},
volume = {16},
year = {2015}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - The 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 un-genotyped mutation (AT/G, rs386770867) in the 5’ untranslated region (UTR) 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 (EMSA) revealed that the transcription factor YY1 binds to the AT allele whilst SRY 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 over expressed in these individuals (P = 1.26 x 10-21).   A dual luciferase assay with the pGL3 Luciferase report gene showed that the AT allele significantly affects transcriptional activities. Our results indicate the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2.
AU  - Holt,RJ
AU  - Vandiedonck,C
AU  - Willis-Owen,SA
AU  - Knight,JC
AU  - Cookson,WO
AU  - Moffatt,MF
AU  - Zhang,Y
DO  - 10.1038/gene.2015.36
EP  - 494
PY  - 2015///
SN  - 1476-5470
SP  - 488
TI  - A functional AT/G polymorphism in the 5'-untranslated region (UTR) of SETDB2 in the IgE locus on human chromosome 13q14
T2  - Genes and Immunity
UR  - http://dx.doi.org/10.1038/gene.2015.36
UR  - http://hdl.handle.net/10044/1/25356
VL  - 16
ER  -
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