Cream Gene - Inheritance and Expression - Analogous Conditions in Other Animals

Analogous Conditions in Other Animals

The MATP gene is highly conserved, especially among mammals. The human MATP gene is 82% identical to the mouse MATP gene, 79% identical to the rat MATP gene, 35% to the zebrafish version, and 30% identical to the fruitfly MATP gene. The gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism (OCA4). Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with increased rates of skin cancer and reduced visual acuity. None of these effects are associated with the equine cream gene. Other human MATP polymorphisms result in normal pigment variations, specifically fair skin, light eyes, and light hair in Caucasian populations.

A polymorphism on the mouse MATP gene is known to be the cause of the underwhite coat color phenotype. The phenotype was first identified in the 1960s, and since then has been mapped successfully. Affected individuals have a reduction in eye and coat pigmentation, and irregularly shaped melanosomes.

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