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Related Concept Videos

Transcription Factors02:16

Transcription Factors

82.1K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Cooperative Binding of Transcription Regulators02:13

Cooperative Binding of Transcription Regulators

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Transcriptional regulators bind to specific cis-regulatory sequences in the DNA to regulate gene transcription. These cis-regulatory sequences are very short, usually less than ten nucleotide pairs in length. The short length means that there is a high probability of the exact same sequence randomly occurring throughout the genome.  Since regulators can also bind to groups of similar sequences, this further increases the chances of random binding. Transcriptional regulators form...
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Cooperative Binding of Transcription Regulators02:13

Cooperative Binding of Transcription Regulators

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Transcription Elongation Factors02:35

Transcription Elongation Factors

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Transcription Elongation Factors02:35

Transcription Elongation Factors

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Transcription elongation is a dynamic process that alters depending upon the sequence heterogeneity of the DNA being transcribed. Hence, it is not surprising that the elongation complex's composition also varies along the way while transcribing a gene.
The transcription elongation is regulated via pausing of RNA polymerase on several occasions during transcription. In bacteria, these halts are necessary because the transcription of DNA into mRNA is coupled to the translation of that mRNA...
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High Sensitivity Measurement of Transcription Factor-DNA Binding Affinities by Competitive Titration Using Fluorescence Microscopy
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eQTL Mapping Using Transcription Factor Affinity.

Elisa Mariella1, Elena Grassi1, Paolo Provero2,3

  • 1Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Turin, Italy.

Methods in Molecular Biology (Clifton, N.J.)
|December 19, 2019
PubMed
Summary
This summary is machine-generated.

This study introduces a novel method for detecting expression quantitative trait loci (eQTLs) by analyzing genetic variants in regulatory regions and their impact on transcription factor binding, aiding disease gene identification.

Keywords:
GWASHuman genetic variantsTotal binding affinityTranscription factorseQTL

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Genome-Wide Association Studies (GWAS) identify numerous common genetic variants linked to human diseases.
  • Interpreting the functional impact of these variants is challenging, particularly for noncoding regions.
  • Noncoding variants are hypothesized to influence gene expression, making eQTL mapping crucial.

Purpose of the Study:

  • To develop an alternative strategy for expression quantitative trait loci (eQTL) detection.
  • To integrate the effects of multiple genetic variants within regulatory regions.
  • To identify target genes by considering alterations in transcription factor (TF) binding.

Main Methods:

  • Developed a novel eQTL detection strategy.
  • Incorporated the combined effects of genetic variants in regulatory regions.
  • Leveraged the relationship between gene expression changes and TF binding alterations.

Main Results:

  • Successfully identified eQTLs using the proposed alternative strategy.
  • Demonstrated the utility of considering combined variant effects and TF binding.
  • Provided a new approach for functional interpretation of GWAS findings.

Conclusions:

  • The developed method offers a valuable alternative for eQTL mapping.
  • This approach enhances the functional interpretation of noncoding genetic variants.
  • It facilitates the identification of disease-associated target genes through TF binding analysis.