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Natural selection influences the frequencies of particular alleles and phenotypes within populations in several different ways. Primarily, natural selection can be directional, stabilizing, or disruptive. Directional selection favors one extreme trait and shifts the population towards that phenotype while selecting against individuals displaying alternate traits. Stabilizing selection favors an intermediate trait with a narrow range of variation. Deviation from the optimal phenotype towards an...
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Problems with studying directional natural selection in humans.

S V Mikhailova1

  • 1Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

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Summary

Human populations show ongoing directional selection, particularly for immunity and behavioral genes, with methods like DNA analysis and fertility studies revealing evolutionary adaptations. Despite challenges, research indicates selection for social adaptation and behavioral traits in modern humans.

Keywords:
Homo sapiensadaptationfertilitygenome-wide association studynatural selectionpolygenic index

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Area of Science:

  • Human evolutionary genetics
  • Population genetics
  • Bioinformatics

Background:

  • Assessing directional selection in human populations is crucial for understanding evolutionary adaptations.
  • Various methodologies exist, each with specific strengths and limitations for different evolutionary timescales.
  • Challenges include sample stratification, limited diversity in studies, and accounting for complex nongenetic factors.

Purpose of the Study:

  • To review and synthesize the primary methods used to evaluate directional selection in human populations.
  • To discuss the applicability and limitations of each method across different human evolutionary periods.
  • To highlight key findings regarding human adaptation, particularly concerning diet, immunity, and behavior.

Main Methods:

  • Bioinformatic analysis of DNA sequences (linkage disequilibrium, allele frequency deviations).
  • Demographic and anthropometric studies correlating fertility with phenotypic traits.
  • Genome-wide association studies (GWAS) on fertility, genetic loci, and polygenic risk scores.
  • Comparative analysis of allele frequencies across generations (modern vs. ancient samples).

Main Results:

  • Human adaptation to new food sources has remained consistent since the Neolithic period.
  • Immunity gene variants have undergone positive selection in the last 2-3 millennia due to infectious diseases.
  • Altered selection directions observed for immune response and cognitive traits in Europe.
  • Modern populations exhibit selection for genes related to social adaptation and behavioral phenotypes, including a positive correlation between fertility and ADHD polygenic risk scores.

Conclusions:

  • Directional selection continues to shape human populations, influencing traits related to immunity, cognition, and behavior.
  • Understanding these evolutionary pressures requires integrating diverse methodologies and addressing inherent study limitations.
  • Ongoing selection for social and behavioral adaptations is a significant feature of contemporary human evolution.