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Related Concept Videos

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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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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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
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Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins
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Joint disease-specificity at the regulatory base-pair level.

Pushpanathan Muthuirulan1, Dewei Zhao2, Mariel Young1

  • 1Department of Human Evolutionary Biology, Harvard University, Cambridge, MA, USA.

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Summary

Genetic variants in non-coding DNA influence specific joint disorders like hip dysplasia and knee osteoarthritis. Researchers identified specific regulatory variants impacting GDF5 gene expression and disease development.

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Many genes have multiple disease associations, suggesting non-coding regions hold disease specificity.
  • The GDF5 gene is linked to over twenty distinct disease associations, particularly joint disorders.

Purpose of the Study:

  • To identify causal variants for hip dysplasia and knee osteoarthritis associated with the GDF5 gene.
  • To investigate the role of non-coding regulatory elements in joint-specific diseases.

Main Methods:

  • Mapping regulatory regions in joint chondrocytes.
  • Identifying and analyzing specific genetic variants (rs4911178; rs6060369) on a risk haplotype.
  • Modeling variants in humanized mice to assess disease impact and gene expression correlation.
  • Analyzing patterns of modularity in loci with multiple GWAS disease associations.

Main Results:

  • Two variants (rs4911178; rs6060369) were pinpointed in anatomical site-specific enhancers, impacting hip dysplasia and knee osteoarthritis.
  • These variants alter morphology and show joint-specific responses in humanized mice, correlating with GDF5 expression.
  • Modularity patterns observed at GDF5 are prevalent in other loci with multiple GWAS associations.

Conclusions:

  • Separate regulatory variants on a common risk haplotype can cause distinct joint-specific diseases.
  • Non-coding variants play a crucial role in disease specificity, even within genes with pleiotropic effects.
  • Understanding gene regulation in non-coding regions is key to deciphering complex genetic architectures of diseases.