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Proteome-wide analysis of disease-associated SNPs that show allele-specific transcription factor binding.

التفاصيل البيبلوغرافية
العنوان: Proteome-wide analysis of disease-associated SNPs that show allele-specific transcription factor binding.
المؤلفون: Falk Butter, Lucy Davison, Tar Viturawong, Marion Scheibe, Michiel Vermeulen, John A Todd, Matthias Mann
المصدر: PLoS Genetics, Vol 8, Iss 9, p e1002982 (2012)
بيانات النشر: Public Library of Science (PLoS), 2012.
سنة النشر: 2012
المجموعة: LCC:Genetics
مصطلحات موضوعية: Genetics, QH426-470
الوصف: A causative role for single nucleotide polymorphisms (SNPs) in many genetic disorders has become evident through numerous genome-wide association studies. However, identification of these common causal variants and the molecular mechanisms underlying these associations remains a major challenge. Differential transcription factor binding at a SNP resulting in altered gene expression is one possible mechanism. Here we apply PWAS ("proteome-wide analysis of SNPs"), a methodology based on quantitative mass spectrometry that enables rapid screening of SNPs for differential transcription factor binding, to 12 SNPs that are highly associated with type 1 diabetes at the IL2RA locus, encoding the interleukin-2 receptor CD25. We report differential, allele-specific binding of the transcription factors RUNX1, LEF1, CREB, and TFAP4 to IL2RA SNPs rs12722508*A, rs12722522*C, rs41295061*A, and rs2104286*A and demonstrate the functional influence of RUNX1 at rs12722508 by reporter gene assay. Thus, PWAS may be able to contribute to our understanding of the molecular consequences of human genetic variability underpinning susceptibility to multi-factorial disease.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1553-7390
1553-7404
Relation: http://europepmc.org/articles/PMC3459973?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404
DOI: 10.1371/journal.pgen.1002982
URL الوصول: https://doaj.org/article/38c4800fdf094c3bb5252e9d1865a72f
رقم الأكسشن: edsdoj.38c4800fdf094c3bb5252e9d1865a72f
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:15537390
15537404
DOI:10.1371/journal.pgen.1002982