Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data

The expression level of each gene is controlled by its regulatory regions, which determine the precise regulation in a tissue-specific manner, according to the developmental stage of the body and the necessity of a response to external stimuli. Nucleotide substitutions in regulatory gene regions may...

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Main Authors: Elena V. Ignatieva, Victor G. Levitsky, Nikolay A. Kolchanov
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2015/260159
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author Elena V. Ignatieva
Victor G. Levitsky
Nikolay A. Kolchanov
author_facet Elena V. Ignatieva
Victor G. Levitsky
Nikolay A. Kolchanov
author_sort Elena V. Ignatieva
collection DOAJ
description The expression level of each gene is controlled by its regulatory regions, which determine the precise regulation in a tissue-specific manner, according to the developmental stage of the body and the necessity of a response to external stimuli. Nucleotide substitutions in regulatory gene regions may modify the affinity of transcription factors to their specific DNA binding sites, affecting the transcription rates of genes. In our previous research, we found that genes controlling the sensory perception of smell and genes involved in antigen processing and presentation were overrepresented significantly among genes with high SNP contents in their promoter regions. The goal of our study was to reveal functional features of human genes containing extremely small numbers of SNPs in promoter regions. Two functional groups were found to be overrepresented among genes whose promoters did not contain SNPs: (1) genes involved in gene-specific transcription and (2) genes controlling chromatin organization. We revealed that the 5′-regulatory regions of genes encoding transcription factors and chromatin-modifying proteins were characterized by reduced genetic variability. One important exception from this rule refers to genes encoding transcription factors with zinc-coordinating DNA-binding domains (DBDs), which underwent extensive expansion in vertebrates, particularly, in primate evolution. Hence, we obtained new evidence for evolutionary forces shaping variability in 5′-regulatory regions of genes.
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spelling doaj-art-8705391fa7d44f689d780e5dd72a71712025-08-20T02:08:35ZengWileyInternational Journal of Genomics2314-436X2314-43782015-01-01201510.1155/2015/260159260159Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project DataElena V. Ignatieva0Victor G. Levitsky1Nikolay A. Kolchanov2Laboratory of Evolutionary Bioinformatics and Theoretical Genetics, Federal State Research Center Institute of Cytology and Genetics, Russian Academy of Sciences, Siberian Branch, Novosibirsk 630090, RussiaLaboratory of Evolutionary Bioinformatics and Theoretical Genetics, Federal State Research Center Institute of Cytology and Genetics, Russian Academy of Sciences, Siberian Branch, Novosibirsk 630090, RussiaDepartment of Natural Science, Novosibirsk State University, Novosibirsk 630090, RussiaThe expression level of each gene is controlled by its regulatory regions, which determine the precise regulation in a tissue-specific manner, according to the developmental stage of the body and the necessity of a response to external stimuli. Nucleotide substitutions in regulatory gene regions may modify the affinity of transcription factors to their specific DNA binding sites, affecting the transcription rates of genes. In our previous research, we found that genes controlling the sensory perception of smell and genes involved in antigen processing and presentation were overrepresented significantly among genes with high SNP contents in their promoter regions. The goal of our study was to reveal functional features of human genes containing extremely small numbers of SNPs in promoter regions. Two functional groups were found to be overrepresented among genes whose promoters did not contain SNPs: (1) genes involved in gene-specific transcription and (2) genes controlling chromatin organization. We revealed that the 5′-regulatory regions of genes encoding transcription factors and chromatin-modifying proteins were characterized by reduced genetic variability. One important exception from this rule refers to genes encoding transcription factors with zinc-coordinating DNA-binding domains (DBDs), which underwent extensive expansion in vertebrates, particularly, in primate evolution. Hence, we obtained new evidence for evolutionary forces shaping variability in 5′-regulatory regions of genes.http://dx.doi.org/10.1155/2015/260159
spellingShingle Elena V. Ignatieva
Victor G. Levitsky
Nikolay A. Kolchanov
Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
International Journal of Genomics
title Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
title_full Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
title_fullStr Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
title_full_unstemmed Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
title_short Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
title_sort human genes encoding transcription factors and chromatin modifying proteins have low levels of promoter polymorphism a study of 1000 genomes project data
url http://dx.doi.org/10.1155/2015/260159
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AT victorglevitsky humangenesencodingtranscriptionfactorsandchromatinmodifyingproteinshavelowlevelsofpromoterpolymorphismastudyof1000genomesprojectdata
AT nikolayakolchanov humangenesencodingtranscriptionfactorsandchromatinmodifyingproteinshavelowlevelsofpromoterpolymorphismastudyof1000genomesprojectdata