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Related Concept Videos

Pigmentation01:19

Pigmentation

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.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Albinism
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Identifying genes underlying skin pigmentation differences among human populations.

Sean Myles1, Mehmet Somel, Kun Tang

  • 1Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. myles@eva.mpg.de

Human Genetics
|September 16, 2006
PubMed
Summary

Human skin pigmentation varies adaptively. Researchers analyzed 24 pigmentation genes, finding significant allele frequency differences and evidence of positive selection, particularly in the DCT gene among Chinese populations. Different genes likely explain lighter skin in various non-African groups.

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Area of Science:

  • Human genetics
  • Evolutionary biology
  • Anthropology

Background:

  • Human skin pigmentation is a highly variable phenotype.
  • Population differences in skin color are thought to be adaptive.
  • Genes influencing pigmentation are expected to show population-specific allele frequencies and signatures of selection.

Purpose of the Study:

  • To identify genetic loci contributing to human skin pigmentation variation among populations.
  • To investigate whether observed allele frequency differences are driven by natural selection.
  • To explore the genetic basis of lighter skin pigmentation in different non-African populations.

Main Methods:

  • Analyzed allele frequency differentiation for 24 human pigmentation genes across European, Chinese, and African populations using large-scale SNP datasets.
  • Employed a within-population long-range haplotype test to detect signatures of positive selection.
  • Compared genetic data to identify candidate genes under selection related to skin pigmentation.

Main Results:

  • Several pigmentation genes exhibited substantial allele frequency differences among the studied populations.
  • Identified novel candidate genes showing signatures of positive selection.
  • The DCT gene was identified as a candidate for recent positive selection in the Chinese population.
  • Evidence suggests distinct genetic mechanisms underlie lighter skin in different non-African populations.

Conclusions:

  • Genetic variation in pigmentation genes contributes significantly to human population differences.
  • Natural selection has played a role in shaping skin pigmentation diversity.
  • The DCT gene is a key candidate for adaptive evolution of skin color in East Asians.
  • Multiple evolutionary pathways likely account for the spectrum of human skin tones.