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Related Concept Videos

Genetic Variation01:25

Genetic Variation

1.6K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.4K
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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.1K
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

6.2K
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.
In contrast, regions which code...
6.2K
Ligand Binding and Linkage00:49

Ligand Binding and Linkage

4.4K
Allosteric proteins have more than one ligand binding site; the binding of a ligand to any of these sites influences the binding of ligands to the other sites. When a protein is allosteric, its binding sites are called coupled or linked.  In the case of enzymes, the site that binds to the substrate is known as the active site and the other site is known as the regulatory site. When a ligand binds to the regulatory site, this leads to conformational changes in the protein that can influence...
4.4K
Gene Families01:57

Gene Families

8.0K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
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Related Experiment Video

Updated: Apr 21, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Patterns of variation during adaptation in functionally linked loci.

Diamantis Sellis1, Mark D Longo

  • 1Department of Biology, Stanford University, Stanford, California, 94305. sellisd@gmail.com.

Evolution; International Journal of Organic Evolution
|October 24, 2014
PubMed
Summary

Genetic variation patterns depend on a gene

Keywords:
Enzyme kineticsfine-tuningmetabolic pathwaypopulation geneticsselection

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Related Experiment Videos

Last Updated: Apr 21, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Evolutionary biology
  • Population genetics
  • Systems biology

Background:

  • Understanding genetic variation is key to evolution and development.
  • Gene network context influences evolutionary constraints.
  • Previous studies show mixed results on enzyme position and evolutionary constraint.

Purpose of the Study:

  • To investigate genetic variation in relation to metabolic pathway position.
  • To explore how selection on whole-pathway flux affects genetic variation.
  • To reconcile theoretical expectations with empirical findings.

Main Methods:

  • Combined population genetics and enzyme kinetics models.
  • Simulated selection acting on whole-pathway flux.
  • Analyzed patterns of genetic polymorphism and divergence.

Main Results:

  • Successfully reproduced empirical patterns of polymorphism and divergence.
  • Showed that upstream genes are initially more polymorphic and diverge faster.
  • Observed opposite trends for upstream genes as populations approach fitness optima.

Conclusions:

  • Evolutionary expectations for genes vary with population trajectory.
  • Pathway position and environmental changes interact to shape genetic variation.
  • Models can explain observed patterns of genetic variation in metabolic pathways.