Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Human pigmentation genes: identification, structure and consequences of polymorphic variation.

R A Sturm1, R D Teasdale, N F Box

  • 1Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia. r.sturm@imb.uq.edu.au

Gene
|October 17, 2001
PubMed
Summary

Human pigmentation genes control melanin synthesis and distribution. Genetic variations, particularly in the MC1R receptor, significantly influence skin and hair color, highlighting its role in normal pigment diversity.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Inclusive by design: Why we must rethink generative AI in dermatology.

Journal of the European Academy of Dermatology and Venereology : JEADV·2025
Same author

CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020
Same author

The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls.

The British journal of dermatology·2019
Same author

High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.

The British journal of dermatology·2019
Same author

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients.

Journal of the European Academy of Dermatology and Venereology : JEADV·2019
Same author

Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study.

The British journal of dermatology·2018

Area of Science:

  • Genetics
  • Cell Biology
  • Biochemistry

Background:

  • The human pigmentary system relies on melanin synthesis within melanocytes.
  • Melanosome organelle formation, transport, and distribution are directed by specific pigmentation genes.
  • Genetic studies of mouse coat color and human hypopigmentation diseases (e.g., OCA1, OCA2) have identified key genes.

Purpose of the Study:

  • To explore the genetic basis of human pigmentation.
  • To investigate the role of specific genes and receptors in melanin production and type.
  • To understand the genetic variation influencing normal human pigment diversity.

Main Methods:

  • Comparative genomic studies of mouse coat color mutations.
  • Molecular characterization of human hypopigmentary genetic diseases.

Related Experiment Videos

  • Analysis of genetic variation in candidate human pigmentation genes across populations.
  • Functional correlation of MC1R alleles with phenotypic traits (skin and hair color).

    • Main Results:

    • Identified genes involved in melanosome formation, transport, and melanin accumulation.
    • Demonstrated melanocyte response to alpha-MSH/ACTH via MC1R receptor, regulating melanin production and type.
    • Highlighted the role of intramelanosomal pH, governed by P-protein, in controlling melanin synthesis and melanosome maturation.
    • Discovered high polymorphism in the MC1R locus with over 30 identified variant alleles.

    Conclusions:

    • MC1R is a crucial receptor in stimulating melanin production and switching melanin types.
    • P-protein's regulation of intramelanosomal pH is critical for melanogenesis and melanosome maturation.
    • Significant genetic variation exists in human pigmentation genes, especially MC1R.
    • MC1R variants are principal determinants of normal human pigment variation, correlating with skin and hair color.