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dc.contributor.authorKamanu, Frederick Kinyua
dc.contributor.authorMedvedeva, Yulia A.
dc.contributor.authorSchaefer, Ulf
dc.contributor.authorJankovic, Boris R.
dc.contributor.authorArcher, John A.C.
dc.contributor.authorBajic, Vladimir B.
dc.date.accessioned2014-08-27T09:48:39Z
dc.date.available2014-08-27T09:48:39Z
dc.date.issued2012-06-01
dc.identifier.citationKamanu FK, Medvedeva YA, Schaefer U, Jankovic BR, Archer JAC, et al. (2012) Mutations and Binding Sites of Human Transcription Factors. Front Gene 3. doi:10.3389/fgene.2012.00100.
dc.identifier.issn16648021
dc.identifier.pmid22670148
dc.identifier.doi10.3389/fgene.2012.00100
dc.identifier.urihttp://hdl.handle.net/10754/325350
dc.description.abstractMutations 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. 2012 Kamanu, Medvedeva, Schaefer, Jankovic, Archer and Bajic.
dc.language.isoen
dc.publisherFrontiers Media SA
dc.rightsCopyright © 2012 Kamanu, Medvedeva, Schaefer, Jankovic, Archer and Bajic.
dc.rightshttp://www.frontiersin.org/licenseagreement
dc.rightsThis is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License, which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.
dc.rightsArchived with thanks to Frontiers in Genetics
dc.subjectBioinformatics
dc.subjectDeletion
dc.subjectInsertion
dc.subjectMutation
dc.subjectPromoter region
dc.subjectSNP
dc.subjectTranscript ion factor
dc.subjectTranscription factor binding site
dc.titleMutations and binding sites of human transcription factors
dc.typeArticle
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.identifier.journalFrontiers in Genetics
dc.identifier.pmcidPMC3365286
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionUnidad Académica de Sistemas Arrecifales (Puerto Morelos), Instituto de Ciencias Del Mar y Limnología, Universidad Nacional Autõnoma de México, Puerto Morelos, QR 77580, Mexico
dc.contributor.institutionSchool of Natural Sciences, University of California Merced, 5200 North Lake Road, Merced, CA 95343, United States
dc.contributor.affiliationKing Abdullah University of Science and Technology (KAUST)
kaust.personKamanu, Frederick Kinyua
kaust.personMedvedeva, Yulia
kaust.personArcher, John A.C.
kaust.personBajic, Vladimir B.
kaust.personSchaefer, Ulf
kaust.personJankovic, Boris R.
refterms.dateFOA2018-06-13T15:16:25Z


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