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Pigmentation01:19

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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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The Genetics and Evolution of Human Pigmentation.

Dorra Guermazi1, Elie Saliba1,2

  • 1Department of Dermatology, Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.

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PubMed
Summary

Human skin color evolved due to ultraviolet radiation, with genes like MC1R adapting to balance sun protection and vitamin D. This review explores global genetic variations and their health impacts.

Keywords:
MC1ROCA2SLC24A5TYRUV radiationconvergent evolutionevolutiongeneticsnatural selectionskin pigmentation

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Area of Science:

  • Human genetics
  • Evolutionary biology
  • Dermatology

Background:

  • Human skin pigmentation is a highly variable trait influenced by natural selection.
  • Ultraviolet (UV) radiation is a primary driver of skin color adaptation.
  • Global differences in skin pigmentation reflect evolutionary responses to diverse UV environments.

Purpose of the Study:

  • To review the genetic and evolutionary mechanisms behind human skin pigmentation diversity.
  • To examine the roles of key genes (e.g., MC1R, SLC24A5, TYR, OCA2) in adaptation.
  • To explore convergent evolution and adaptive patterns of pigmentation globally.

Main Methods:

  • Synthesis of current research on pigmentation genetics and evolution.
  • Analysis of gene-environment interactions related to UV radiation.
  • Integration of ecological, anthropological, and genomic data.

Main Results:

  • Key genes show adaptive variations balancing UV protection and vitamin D synthesis.
  • Evidence of convergent evolution towards lighter skin in Europe and East Asia.
  • Darker pigmentation alleles are prevalent in equatorial regions.

Conclusions:

  • Human skin color is a complex adaptation shaped by UV radiation and genetic factors.
  • Evolutionary skin pigmentation adaptations impact current health outcomes, including cancer risk and vitamin D metabolism.
  • Understanding skin color evolution offers insights into human adaptation and health disparities.