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The Inheritance and Evolution of Skin Color

Genetic Level

Melanocortin 1 Receptor (MC1R) Gene

  • function of MC1R
  • G protein linked receptor
  • effect of polymorphisms
  • alleles

TYR, TYRP1, and TYRP2

Function of Melanin

  • TYR gene: tyrosinase
  • TYRP1 gene: tyrosinase related protein 1
  • TYRP2 gene: tyrosinase related protein 2

Genetic Overview

  • protects DNA
  • visible light
  • invisible: UVA and UVB
  • too much sun exposure
  • genetic damage
  • skin cancer

Cellular Level

  • complicated
  • over 20 different genes involved
  • TYR, TYRP1, TYRP2, SLC45A2, SLC24A5, OCA2, MC1R

SLC24A5

The Basics

  • function
  • NCKX5
  • single nucleotide polymorphisms (SNPs)
  • correlation with skin color
  • skin structure
  • melanin
  • what is it?
  • phenotype spectrum
  • albinism

Pathway of Melanin

  • melanocyte
  • melanin production
  • melanosome
  • eumelanosomes vs pheomelanosomes
  • keratinocyte

Formation of Melanin

Why does the level of UV radiation affect skin color?

Eumelanin vs. Pheomelanin

Conclusion

  • color
  • ratio
  • function
  • skin cancer
  • folate (vitamin B6)
  • Vitamin D
  • positive selection

Overview

Evolution

  • complicated inheritance
  • polymorphisms account for variation
  • different types of melanin produced
  • small clan of humans in Africa
  • migration only began 100,000 years ago
  • UV exposure is main cause of skin color variation

Implications

  • social impact
  • scientific knowledge
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