Related Experiment Video

Updated: Aug 19, 2026

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
07:16

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish

Published on: March 1, 2022

Genetic disorders of pigmentation

Thierry Passeron1, Frédéric Mantoux, Jean-Paul Ortonne

  • 1Department of Dermatology, Archet-2 Hospital, 06202 Nice Cedex 3, France. t.passeron@free.fr

Clinics in Dermatology
|February 15, 2005
PubMed

Insights

Mouse pigmentation genetics involves over 127 loci. Studying genetic disorders reveals crucial insights into melanogenesis and pigment transfer, linking mutations to clinical phenotypes.

Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Over 127 mouse loci are known to influence pigmentation.
  • Pigmentation involves complex processes from embryogenesis to melanin transfer.
  • Many gene mutations affecting pigmentation are identified, but protein functions and melanogenesis roles are not fully understood.

Purpose of the Study:

  • To review recent advances in understanding the pathophysiology of genetic pigmentation disorders.
  • To connect gene mutations to clinical phenotypes in hypo- and hyperpigmentation conditions.
  • To elucidate the role of specific genes and proteins in the melanogenesis pathway.

Main Methods:

  • Literature review of genetic pigmentation disorders in mice and humans.
  • Analysis of known gene mutations affecting pigmentation.
  • Correlation of genetic defects with observed clinical phenotypes.

Main Results:

  • Genetic mutations can disrupt various stages of melanogenesis, including melanocyte survival and melanin transfer.
  • Each identified genetic disorder provides insights into the intricate pigmentation process.
  • Advances in understanding genodermatoses are clarifying the link between genotype and phenotype.

Conclusions:

  • Understanding genetic pigmentation disorders is key to unraveling the complexities of melanogenesis.
  • Further research connecting gene mutations to clinical presentation will advance the field.
  • This review highlights the current understanding of how genetic defects lead to altered pigmentation.

More Related Videos

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model12:37

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

Related Concept Videos

Pleiotropy01:33

Pleiotropy

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,...
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...
Epistasis01:39

Epistasis

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...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.