PMID- 21320718
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20220129
IS  - 1097-6825 (Electronic)
IS  - 0091-6749 (Print)
IS  - 0091-6749 (Linking)
VI  - 127
IP  - 4
DP  - 2011 Apr
TI  - Allele-specific transcription of the asthma-associated PHD finger protein 11 gene 
      (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1).
PG  - 1054-62.e1-2
LID - 10.1016/j.jaci.2010.12.015 [doi]
AB  - BACKGROUND: Asthma is a common, chronic inflammatory airway disease of major 
      public health importance with multiple genetic determinants. Previously, we found 
      by positional cloning that PHD finger protein 11 (PHF11) on chromosome 13q14 
      modifies serum immunoglobulin E (IgE) concentrations and asthma susceptibility. 
      No coding variants in PHF11 were identified. OBJECTIVE: Here we investigate the 3 
      single nucleotide polymorphisms (SNPs) in this gene most significantly associated 
      with total serum IgE levels--rs3765526, rs9526569, and rs1046295--for a role in 
      transcription factor binding. METHODS: We used electrophoretic mobility shift 
      assays to examine the effect of the 3 SNPs on transcription factor binding in 3 
      cell lines relevant to asthma pathogenesis. Relative preferential expression of 
      alleles was investigated by using the allelotyping method. RESULTS: 
      Electrophoretic mobility shift assays show that rs1046295 modulates 
      allele-specific binding by the octamer-binding transcription factor 1 (Oct-1). 
      Analysis of the relative expression levels of the 2 alleles of this SNP in 
      heterozygous individuals showed a modest, but highly significant (P = 6.5 x 
      10(-16)), preferential expression of the A allele consistent with a functional 
      role for rs1046295. CONCLUSION: These results suggest a mechanism by which 
      rs1046295 may act as a regulatory variant modulating transcription at this locus 
      and altering asthma susceptibility.
CI  - Copyright (c) 2011 American Academy of Allergy, Asthma & Immunology. Published by 
      Mosby, Inc. All rights reserved.
FAU - Holt, Richard J
AU  - Holt RJ
AD  - Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United 
      Kingdom. rholt@well.ox.ac.uk
FAU - Zhang, Youming
AU  - Zhang Y
FAU - Binia, Aristea
AU  - Binia A
FAU - Dixon, Anna L
AU  - Dixon AL
FAU - Vandiedonck, Claire
AU  - Vandiedonck C
FAU - Cookson, William O
AU  - Cookson WO
FAU - Knight, Julian C
AU  - Knight JC
FAU - Moffatt, Miriam F
AU  - Moffatt MF
LA  - eng
GR  - 075491/Z/04/WT_/Wellcome Trust/United Kingdom
GR  - 097117/Wellcome Trust/United Kingdom
GR  - 074318/Wellcome Trust/United Kingdom
GR  - Wellcome Trust/United Kingdom
GR  - G1000758/MRC_/Medical Research Council/United Kingdom
GR  - 090532/Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110212
PL  - United States
TA  - J Allergy Clin Immunol
JT  - The Journal of allergy and clinical immunology
JID - 1275002
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Octamer Transcription Factor-1)
RN  - 0 (PHF11 protein, human)
RN  - 0 (POU2F1 protein, human)
RN  - 0 (Transcription Factors)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Adolescent
MH  - Alleles
MH  - Asthma/*genetics/immunology
MH  - Child
MH  - Child, Preschool
MH  - DNA-Binding Proteins/*genetics
MH  - Electrophoretic Mobility Shift Assay
MH  - Gene Expression
MH  - Gene Expression Profiling
MH  - Gene Expression Regulation/*immunology
MH  - Genetic Predisposition to Disease/*genetics
MH  - Humans
MH  - Immunoglobulin E/blood
MH  - Octamer Transcription Factor-1/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single Nucleotide
MH  - Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
MH  - Transcription Factors/*genetics
MH  - Transcription, Genetic
PMC - PMC3955022
MID - EMS47988
OID - NLM: EMS47988
EDAT- 2011/02/16 06:00
MHDA- 2011/06/01 06:00
PMCR- 2014/03/15
CRDT- 2011/02/16 06:00
PHST- 2009/12/01 00:00 [received]
PHST- 2010/11/26 00:00 [revised]
PHST- 2010/12/14 00:00 [accepted]
PHST- 2011/02/16 06:00 [entrez]
PHST- 2011/02/16 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
PHST- 2014/03/15 00:00 [pmc-release]
AID - S0091-6749(10)01956-1 [pii]
AID - 10.1016/j.jaci.2010.12.015 [doi]
PST - ppublish
SO  - J Allergy Clin Immunol. 2011 Apr;127(4):1054-62.e1-2. doi: 
      10.1016/j.jaci.2010.12.015. Epub 2011 Feb 12.