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Related Concept Videos

Pigmentation01:19

Pigmentation

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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.
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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Changes in Skin Color: Clinical Perspectives01:14

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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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Epistasis01:39

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Related Experiment Video

Updated: Mar 3, 2026

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
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Skin Pigmentation Genetics for the Clinic.

Stephen A Ainger1, Kasturee Jagirdar, Katie J Lee

  • 1Dermatology Research Centre, The University of Queensland, Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia.

Dermatology (Basel, Switzerland)
|May 3, 2017
PubMed
Summary

Human pigmentation genes influence sun exposure risks and skin cancer, particularly melanoma. Gene variants interact, increasing melanoma risk when combined with other mutations, highlighting the need for clinical understanding in personalized medicine.

Keywords:
Acquired melanocytic naevusMelanogenesisMelanomaPigmentationSkin cancer

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Related Experiment Videos

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Area of Science:

  • Genetics
  • Dermatology
  • Human Evolution

Background:

  • Human pigmentation diversity is crucial for understanding sun exposure effects, skin cancer risk, and disease outcomes.
  • Genes regulating melanin production and distribution in melanocytes are key to pigmentation traits.
  • Single nucleotide polymorphisms (SNPs) and haplotypes in these genes are linked to skin cancer, especially melanoma.

Purpose of the Study:

  • To explore the role of pigmentation genes and their polymorphisms in skin cancer, particularly melanoma.
  • To investigate the impact of gene-gene interactions on melanoma penetrance.
  • To emphasize the clinical relevance of understanding pigmentation and naevogenic gene variants in personalized medicine.

Main Methods:

  • Analysis of single nucleotide polymorphisms (SNPs) and extended haplotypes in pigmentation-related genes.
  • Examination of gene-gene interactions, specifically the coincidence of pigmentation gene risk alleles with mutations in melanoma-associated genes.
  • Review of clinical phenotypes linked to germline variations in pigmentation and naevogenic genes.

Main Results:

  • Specific SNPs and haplotypes in pigmentation genes are identified risk factors for melanoma.
  • Polymorphisms in pigmentation genes have been under selective pressure, leading to lighter skin tones in European populations.
  • Coincidence of pigmentation gene risk alleles (e.g., MC1R variants) with mutations in genes like CDKN2A, CDK4, and MITF E318K increases melanoma penetrance.

Conclusions:

  • Pigmentation gene variants significantly influence melanoma risk and disease outcomes.
  • Interactions between pigmentation genes and other cancer-related genes enhance melanoma penetrance.
  • Understanding these genetic factors is vital for dermatologists in the era of personalized medicine and genomics.