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Kamanu FK, Medvedeva YA, Schaefer U, et al. Mutations and binding sites of human transcription factors. Front Genet. 2012;3:100doi: 10.3389/fgene.2012.00100.
Kamanu, F. K., Medvedeva, Y. A., Schaefer, U., Jankovic, B. R., Archer, J. A., & Bajic, V. B. (2012). Mutations and binding sites of human transcription factors. Frontiers in genetics, 3100. https://doi.org/10.3389/fgene.2012.00100
Kamanu, Frederick Kinyua, et al. "Mutations and binding sites of human transcription factors." Frontiers in genetics vol. 3 (2012): 100. doi: https://doi.org/10.3389/fgene.2012.00100
Kamanu FK, Medvedeva YA, Schaefer U, Jankovic BR, Archer JA, Bajic VB. Mutations and binding sites of human transcription factors. Front Genet. 2012 Jun 01;3:100. doi: 10.3389/fgene.2012.00100. eCollection 2012. PMID: 22670148; PMCID: PMC3365286.
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Front Genet. 2012 Jun 01;3:100. doi: 10.3389/fgene.2012.00100. eCollection 2012.

Mutations and binding sites of human transcription factors.

Frontiers in genetics

Frederick Kinyua Kamanu, Yulia A Medvedeva, Ulf Schaefer, Boris R Jankovic, John A C Archer, Vladimir B Bajic

Affiliations

  1. Computational Bioscience Research Center, King Abdullah University of Science and Technology Thuwal, Kingdom of Saudi Arabia.

PMID: 22670148 PMCID: PMC3365286 DOI: 10.3389/fgene.2012.00100

Abstract

Mutations in any genome may lead to phenotype characteristics that determine ability of an individual to cope with adaptation to environmental challenges. In studies of human biology, among the most interesting ones are phenotype characteristics that determine responses to drug treatments, response to infections, or predisposition to specific inherited diseases. Most of the research in this field has been focused on the studies of mutation effects on the final gene products, peptides, and their alterations. Considerably less attention was given to the mutations that may affect regulatory mechanism(s) of gene expression, although these may also affect the phenotype characteristics. In this study we make a pilot analysis of mutations observed in the regulatory regions of 24,667 human RefSeq genes. Our study reveals that out of eight studied mutation types, "insertions" are the only one that in a statistically significant manner alters predicted transcription factor binding sites (TFBSs). We also find that 25 families of TFBSs have been altered by mutations in a statistically significant manner in the promoter regions we considered. Moreover, we find that the related transcription factors are, for example, prominent in processes related to intracellular signaling; cell fate; morphogenesis of organs and epithelium; development of urogenital system, epithelium, and tube; neuron fate commitment. Our study highlights the significance of studying mutations within the genes regulatory regions and opens way for further detailed investigations on this topic, particularly on the downstream affected pathways.

Keywords: SNP; bioinformatics; deletion; insertion; mutation; promoter region; transcription factor; transcription factor binding site

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