Melanoma pp 21-50 | Cite as

The Biology of Pigmentation

  • Allison S. Dobry
  • David E. FisherEmail author
Reference work entry


Having roots in the earliest Mendelian experiments, the scientific examination of pigmentation offers the unique opportunity to better understand the contributions of genetics, signaling pathways, hormones, and the external environment on the phenotype of our body’s largest organ system: the skin. Epidermal pigmentation is a product of the genetically determined melanin content, the cellular response to external stimuli, and the individual capacity for tanning. These processes are dependent upon a functional pigmentation pathway, which requires proper melanocyte migration, adequate melanogenic enzyme activity, and correct packaging and transfer of melanin to neighboring cells. Disruption of any of these processes leads to alterations in pigmentation. Although cutaneous pigmentation is most heavily focused upon, information about pigment patterning can also be gleaned from other pigmented tissues, including the hair and eyes. Numerous molecular signaling pathways and hormone systems converge to modulate pigment at the cellular level, which further contribute to the overall phenotype. These systems acquire greater importance when considered in the context of melanoma development, as these pathways are frequently found to be dysregulated.


Pigmentation Melanocyte MC1R MITF Melanocyte stem cells Tanning Melanin Ultraviolet 



The authors acknowledge the numerous outstanding researchers who have contributed to our understanding of melanocyte biology and whose work has not been fully cited due to space constraints. The authors also acknowledge grant support from NIH (5P01 CA163222-04; 5R01 AR043369-19; 5R01CA178315-02), the Melanoma Research Alliance, and the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Dermatology, Harvard/MGH Cutaneous Biology Research Center, and Melanoma Program, MGH Cancer CenterMassachusetts General Hospital, Harvard Medical SchoolBostonUSA

Section editors and affiliations

  • David E. Fisher
    • 1
  • Nick Hayward
    • 2
  • David C. Whiteman
    • 3
  • Keith T. Flaherty
    • 4
  • F. Stephen Hodi
    • 5
    • 6
  • Hensin Tsao
    • 7
    • 8
  • Glenn Merlino
    • 9
  1. 1.Department of Dermatology, Harvard/MGH Cutaneous Biology Research Center, and Melanoma Program, MGH Cancer CenterMassachusetts General Hospital, Harvard Medical SchoolBostonUSA
  2. 2.QIMR Berghofer Medical Research InstituteHerstonAustralia
  3. 3.QIMR Berghofer Medical Research InstituteHerstonAustralia
  4. 4.Henri and Belinda Termeer Center for Targeted TherapiesMGH Cancer CenterBostonUSA
  5. 5.FraminghamUSA
  6. 6.Department of Medicine, Brigham and Women's HospitalDana-Farber Cancer InstituteBostonUSA
  7. 7.AuburndaleUSA
  8. 8.Harvard-MIT Health Sciences and TechnologyCambridgeUSA
  9. 9.Center for Cancer ResearchNational Cancer InstituteBethesdaUSA

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