Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype

2009/02/05 by Wojciech Branicki, Urszula Brudnik, Anna Wojas‐Pelc · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Nursing · #melanin and skin pigmentation #Skin Protection and Aging #Biochemical Analysis and Sensing Techniques #Biology #Phenotype #Eye color #Genetics #Population #Gene #Evolutionary biology #Medicine

paper · doi:10.1111/j.1469-1809.2009.00504.x

openalex publication_date 2009/02/05 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/02

Abstract

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene-gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.

Citations

• A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q
• A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation
• Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
• The Genetics of Sun Sensitivity in Humans
• Genetic determinants of hair, eye and skin pigmentation in Europeans
• Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
• The Evolution of Human Skin and Skin Color
• The Validity and Practicality of Sun-Reactive Skin Types I Through VI

Cited by

• Sexual dimorphism in human physiology [wikipedia]

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