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Gene Evolution - Fast or Slow?

Gene Evolution - Fast or Slow?

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...

Gene Evolution - Fast or Slow?

Gene Evolution - Fast or Slow?

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...

Gene Duplication and Divergence

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.

Frequency-dependent Selection

Frequency-dependent Selection

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.

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

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Related Experiment Video

Updated: May 11, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Detecting negative selection on recurrent mutations using gene genealogy.

Kiyoshi Ezawa¹, Giddy Landan, Dan Graur

¹Department of Biology and Biochemistry, University of Houston, Houston, TX 77204-5001, USA. kezawa.ezawa3@gmail.com

|May 9, 2013

Summary

This summary is machine-generated.

Detecting negative selection is challenging, but new statistical tests can identify deleterious recurrent mutations by analyzing their impact on gene genealogies. These methods improve the study of population genetics and genetic disorders.

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

Population Genetics
Evolutionary Biology
Genomics

Background:

Detecting negative selection on mutant alleles is difficult due to their rarity and minimal impact on population dynamics.
Recurrent mutations, identified in genetic disorder and genome-wide studies, offer a potential signal for negative selection.
Exploiting the enhanced genealogical signal from recurrent mutations may reveal deleterious alleles.

Purpose of the Study:

To develop novel statistical tests for detecting negative selection on recurrent mutations.
To assess the performance of these new tests in identifying deleterious recurrent mutations.

Main Methods:

Devised two new test statistics based on mutant counts and the size of identical-by-descent mutant classes.
Utilized simulations of recurrently mutated loci with neutral single nucleotide polymorphisms (SNPs) and no recombination.
Developed a maximum parsimony algorithm for enumerating mutation histories and resolving genealogies.

Main Results:

The new tests demonstrated high power in detecting negative selection under constant population size.
The tests showed moderate power in detecting selection in expanding populations.
The maximum parsimony algorithm effectively handled incompletely resolved genealogies.

Conclusions:

The developed neutrality tests possess high power for detecting negative selection.
These tests offer new approaches for studying the population genetics of recurrent mutations.
The methods may aid in identifying genetic disorders previously missed by existing techniques.