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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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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Frequency-dependent Selection01:21

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When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
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Multi-species Conserved Sequences02:51

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Gene Evolution - Fast or Slow?02:05

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Updated: Dec 21, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Identifying branch-specific positive selection throughout the regulatory genome using an appropriate proxy neutral.

Alejandro Berrio1, Ralph Haygood2, Gregory A Wray3

  • 1Department of Biology, Duke University, Biological Sciences Building, 124 Science Drive, Durham, NC, 27708, USA. alebesc@gmail.com.

BMC Genomics
|May 15, 2020
PubMed
Summary

A new method, adaptiPhy, enhances the detection of adaptive evolution in noncoding DNA. It improves the identification of positive selection in human accelerated elements, revealing that a quarter of these elements evolve under positive selection.

Keywords:
AdaptationAnalytical methodNeutralPositive selectionProxyadaptiPhy

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Area of Science:

  • Evolutionary biology
  • Genomics
  • Bioinformatics

Background:

  • Adaptive changes in cis-regulatory elements are key to evolution by natural selection.
  • Identifying functional noncoding DNA is crucial for linking genotype to phenotype.

Purpose of the Study:

  • To introduce adaptiPhy, a method for improved detection of directional selection in noncoding DNA.
  • To provide a more sensitive and targeted characterization of selection across the genome.

Main Methods:

  • Utilized ENCODE annotations for proxy neutral sequences.
  • Applied adaptiPhy to human accelerated elements and open chromatin regions.
  • Evaluated the impact of sequence length and branch count on test performance.

Main Results:

  • adaptiPhy demonstrated utility in identifying selection in noncoding elements.
  • Optimal lengths for query (150 bp–1 kb) and reference (3 kb) alignments were determined.
  • The method successfully distinguished positive selection from neutral evolution and relaxation of constraint.
  • Confirmed that 25% of non-coding Human Accelerated Elements show evidence of positive selection.

Conclusions:

  • adaptiPhy offers significant improvements for detecting branch-specific directional selection in noncoding sequences.
  • The method enhances the characterization of directional selection and neutral evolution genome-wide.