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A phenotypic trait is an obvious, observable, and measurable characteristic of an organism; it is the expression of genes in an observable way. An example of a phenotypic trait is a specific hair color or eye color. Underlying genes, that make up the genotype, determine the hair color, but the hair color observed is the phenotype.
Aniridia is a condition characterized by the absence or near absence of the iris, the colored, muscular ring in the eye that controls the size of the pupil and regulates the amount of light entering the eye. This absence results in a primarily black appearance of the central eye.
Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene [5] and a G-protein-coupled receptor (GPCR). It is a light-sensitive receptor protein that triggers visual phototransduction in rod cells. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. [6]
As of 2010, as many as 16 genes have been associated with eye color inheritance. Some of the eye-color genes include OCA2 and HERC2. [9] [10] The earlier belief that blue eye color is a recessive trait has been shown to be incorrect, and the genetics of eye color are so complex that almost any parent-child combination of eye colors can occur.
Color vision deficiencies can be classified as inherited or acquired. Inherited: inherited or congenital/genetic color vision deficiencies are most commonly caused by mutations of the genes encoding opsin proteins. However, several other genes can also lead to less common and/or more severe forms of color blindness.
The effect is the variegation in a particular phenotype i.e., the appearance of irregular patches of different colour(s), due to the expression of the original wild-type gene in some cells of the tissue but not in others, [8] as seen in the eye of mutated Drosophila melanogaster.
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.
In the mid-1930s they found that genes affecting eye color appeared to be serially dependent, and that the normal red eyes of Drosophila were the result of pigments that went through a series of transformations; different eye color gene mutations disrupted the transformations at a different points in the series. Thus, Beadle reasoned that each ...