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Eye color inheritance is now recognized as a polygenic trait, meaning that it is controlled by the interactions of several genes. [55] In 2008, a team of researchers from the University of Copenhagen located a single mutation that causes the phenomenon of blue eyes.
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.
Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin. Although the processes determining eye color are not fully understood, it is known that inherited eye color is determined by multiple genes. Environmental or acquired factors can alter these inherited traits. [7]
Blue eyes actually contain no blue pigment. The colour is caused by an effect called Tyndall scattering. Blue eyes do not actually contain any blue pigment. Eye colour is determined by two factors: the pigmentation of the eye's iris [48] [49] and the scattering of light by the turbid medium in the stroma of the iris. [50]
If you've ever heard "your eyes change color a lot," its because of light! Melanin absorbs light so the less melanin, like people with blue eyes, more light is reflected back out of the eye.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Melanin is responsible for giving color to the skin, hair, and eyes. Moreover, melanin is found in the light-sensitive tissue of the retina of the eye which plays a role in normal vision. The exact function of protein P is unknown, but it has been found that it is essential for the normal coloring of skin , eyes , and hair ; and likely involved ...
They have pale blonde to golden, strawberry blonde, or even brown hair, and most commonly blue eyes. Affected people of African descent usually have a different phenotype (appearance): yellow hair, pale skin, and blue, gray or hazel eyes. About 1 in 15,000 people have OCA2. [13] [12] The gene MC1R does not cause OCA2, but does affect its ...