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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
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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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Frequency-dependent Selection01:21

Frequency-dependent Selection

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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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Natural Selection and Mating Preferences01:06

Natural Selection and Mating Preferences

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The principle of natural selection posits that organisms better adapted to their environment are more likely to survive and reproduce. This principle is closely intertwined with mating preferences, a key aspect of sexual selection, which evolutionary psychologists believe is driven by instincts to propagate one's genes. Such instincts significantly influence mating behaviors and preferences between genders.
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Polygenic and single-locus selection on BMI during Polynesian expansion.

Hanako Miwa1, Mariko Isshiki1,2, Izumi Naka1

  • 1Graduate School of Science, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.

Journal of Human Genetics
|December 15, 2025
PubMed
Summary

The CREBRF gene variant shows strong positive selection in Tongans, linked to efficient energy storage during Polynesian voyages. Recent shifts in selection may favor lower BMI, suggesting an evolutionary mismatch with modern environments.

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Area of Science:

  • Human evolutionary genetics
  • Population genetics
  • Metabolic disease research

Background:

  • The 'thrifty' variant hypothesis suggests genetic adaptations for energy storage contribute to modern obesity.
  • Understanding the timing and population-specific effects of these variants on body mass index (BMI) is crucial.

Purpose of the Study:

  • To investigate the evolutionary history and impact of the CREBRF rs373863828-A variant in the Tongan population.
  • To explore the role of polygenic adaptation in BMI changes over time in ancestral Tongans.

Main Methods:

  • Whole-genome sequencing of 22 Tongan individuals.
  • Analysis of allele frequency trajectories using the CLUES program.
  • Examination of polygenic selection signals using polarized trait integrated haplotype scores.

Main Results:

  • Replicated positive selection signal for the CREBRF rs373863828-A variant in Tongans, indicating broader Polynesian adaptive pressures.
  • Inferred a significant increase in the rs373863828-A allele frequency over the last ~100 generations, coinciding with Polynesian maritime expansion.
  • Observed an initial increase in BMI polygenic scores followed by a recent decline, with evidence of selection favoring lower BMI in recent generations.

Conclusions:

  • The CREBRF variant was strongly selected during oceanic dispersal, aiding adaptation to food-limited environments.
  • Multiple modest-effect variants also contributed to adaptation during long sea voyages.
  • Recent selection pressures may be shifting towards lower BMI, highlighting a potential evolutionary mismatch with modern environments.