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Related Concept Videos

Gene Evolution - Fast or Slow?02:05

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?02:05

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...
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
Mutation, Gene Flow, and Genetic Drift01:09

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).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
Organization of Genes02:07

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Related Experiment Video

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

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Published on: August 24, 2013

Darwinian and demographic forces affecting human protein coding genes.

Rasmus Nielsen1, Melissa J Hubisz, Ines Hellmann

  • 1Department of Biology, University of Copenhagen, Copenhagen, Denmark. Rasmus@binf.ku.dk

Genome Research
|March 13, 2009
PubMed
Summary

This study reveals genetic selection in humans by analyzing demographic history and DNA sequences. It identifies genes under selection, including those linked to diseases and muscle development, offering new insights into human evolution.

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Area of Science:

  • Human Genetics
  • Evolutionary Biology
  • Population Genetics

Background:

  • Demographic shifts can obscure true natural selection signals in genetic variation.
  • Accurate identification of selection requires accounting for complex demographic factors like migration and population size changes.

Purpose of the Study:

  • To perform a genome-wide analysis of allele frequency distributions in humans using directly sequenced data.
  • To identify genes exhibiting patterns of genetic variation indicative of Darwinian selection, controlling for demographic effects.

Main Methods:

  • Fitting a detailed human demographic model incorporating divergence, migration, admixture, and population size changes.
  • Analyzing directly sequenced data from 13,400 protein-coding genes in European-American and African-American individuals.
  • Employing statistical methods to detect excesses of high/low frequency-derived alleles and allele frequency differences between populations.

Main Results:

  • Numerous genes show strong evidence of selection, including those associated with psychiatric and other diseases.
  • MicroRNA-controlled genes exhibit high evolutionary constraints and are prone to negative selection.
  • Genes involved in muscle development show evidence of recent positive selection in human history.

Conclusions:

  • Directly sequenced data, when analyzed with robust demographic models, can effectively identify genes under selection.
  • Selection pressures vary across gene types, with evidence for both positive and negative selection acting on genes related to disease and development.
  • This study provides a foundational genome-wide analysis of selection in humans based on direct sequencing, highlighting disease-related genes and evolutionary constraints.