Related Experiment Video
Updated: Jun 16, 2026

12:37
Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
Published on: September 7, 2013
Multiple genes and locus interactions in susceptibility to vitiligo.
Aaron G Smith1, Richard A Sturm
1Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
The Journal of Investigative Dermatology
|February 11, 2010
Summary
Researchers pinpointed specific gene locations linked to generalized vitiligo and related autoimmune conditions. Genetic interactions reveal the complex inheritance of this skin disorder.
Area of Science:
- Genetics
- Dermatology
- Autoimmune Diseases
Background:
- Generalized vitiligo and associated autoimmune diseases often present in familial clusters, suggesting a genetic component.
- Previous studies linked specific chromosomal regions to vitiligo susceptibility.
Discussion:
- High-density single-nucleotide polymorphism (SNP) genotyping was employed to refine the positional mapping of loci on chromosomes 7 and 9.
- The study investigated potential genetic interactions between these newly refined loci and the known NLRP1 susceptibility gene on chromosome 17.
Key Insights:
- The precise locations of genetic loci associated with generalized vitiligo and related autoimmune diseases have been refined.
- Genetic interactions among loci on chromosomes 7, 9, and 17 contribute to the complex risk factors for vitiligo.
Outlook:
- Further research into these complex genetic interactions may elucidate disease mechanisms.
- Understanding these genetic underpinnings could inform future diagnostic and therapeutic strategies for vitiligo.
Related Concept Videos
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,...
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...
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Genetic Lingo
Overview
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...
