What is HERC2?
What is HERC2?
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.
How does HERC2 affect eye color?
At least one polymorphism in this area of the HERC2 gene has been shown to reduce the expression of OCA2, which leads to less melanin in the iris and lighter-colored eyes. Several other genes play smaller roles in determining eye color. Some of these genes are also involved in skin and hair coloring.
Does everyone have HERC2 gene?
All three studies found that the same DNA difference in the HERC2 gene was found in everyone with blue eyes. Because so many unrelated individuals with blue eyes had the same HERC2 DNA difference, blue eyes might have come from one person with the mutation—–a common ancestor.
What is the HERC2 gene mutation?
HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with HERC2 include Mental Retardation, Autosomal Recessive 38 and Skin/Hair/Eye Pigmentation, Variation In, 1. Among its related pathways are Cell Cycle Checkpoints and Metabolism of proteins.
Do blue eyes exist?
Since blue eyes are genetically recessive, only 8 percent of the world’s population has blue eyes. While blue eyes are significantly less common than brown eyes worldwide, they are frequently found from nationalities located near the Baltic Sea in northern Europe.
How do you inherit blue eyes?
The laws of genetics state that eye color is inherited as follows:
- If both parents have blue eyes, the children will have blue eyes.
- The brown eye form of the eye color gene (or allele) is dominant, whereas the blue eye allele is recessive.
What is the most common eye color?
Brown
Brown, which is the most common eye color in the world. Green, which is the least common eye color. Only 9% of people in the United States have green eyes. Hazel, a combination of brown and green.
What gene is responsible for blue eyes?
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.
What is the HERC2 gene and why is it important?
HERC2 is a surprise since it doesn’t seem to be involved in eye color. But the nearby OCA2 gene is. The researchers think that the DNA difference in HERC2 results in the shutting off of the OCA2 gene. And that a non-working OCA2 gene is one of the steps needed for blue eyes.
How does the HERC2 – OCA2 gene determine human eye color?
Such a mechanism acts at the human HERC2 – OCA2 locus, which is important for the determination of human eye color and skin pigmentation ( Visser et al., 2012 ). Different activity within the human populations is most correlated with a SNP (single nucleotide polymorphism) in an enhancer within an intron of the nearby HERC2 gene.
How does the HERC2 gene affect the iris?
A region of the nearby HERC2 gene known as intron 86 contains a segment of DNA that controls the activity (expression) of the OCA2 gene, turning it on or off as needed. At least one polymorphism in this area of the HERC2 gene has been shown to reduce the expression of OCA2, which leads to less melanin in the iris and lighter-colored eyes.
Is there an association between HERC2 NCOA4 and skin colour?
SNP rs12913832 in HERC2 was found to be strongly associated with blue eye colour. SNP associations with hair and skin colour were weaker and genotypes less predictive. Ubiquitin-dependent NCOA4 turnover is promoted by excess iron and involves an iron-dependent interaction between NCOA4 and the HERC2 ubiquitin ligase.
