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A number of genes known to affect skin color have alleles that show signs of positive selection in East Asian populations. Of these, only OCA2 has been directly related to skin color measurements, while DCT, MC1R and ATRN are marked as candidate genes for future study.
Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. [5] The NCKX5 protein is a member of the potassium-dependent sodium/calcium exchanger family.
This also affects essential granules present in immune cells, leading to increased susceptibility to infection. [3] Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin.
This resulted in the current range of human skin color. Of the two common gene variants known to be associated with pale human skin, Mc1r does not appear to have undergone positive selection, [70] while SLC24A5 has undergone positive selection. [71]
Richard Sturm and David Duffy describe 11 genes that affect skin pigmentation and explain most variations in human skin color, the most significant of which are MC1R, ASIP, OCA2, and TYR. [46] There is evidence that as many as 16 different genes could be responsible for eye color in humans; however, the main two genes associated with eye color ...
The melanocortin 1 receptor (MC1R), also known as melanocyte-stimulating hormone receptor (MSHR), melanin-activating peptide receptor, or melanotropin receptor, is a G protein–coupled receptor that binds to a class of pituitary peptide hormones known as the melanocortins, which include adrenocorticotropic hormone (ACTH) and the different forms of melanocyte-stimulating hormone (MSH).
Several genes factor into determining a person's natural skin color, so modifying only one of those genes can change skin color slightly or in some cases, such as for SLC24A5, moderately. Many disorders with genetic components are polygenic, including autism , cancer , diabetes and numerous others.
Leucism (/ ˈ l uː s ɪ z əm,-k ɪ z-/) [2] [3] [4] is a wide variety of conditions that result in partial loss of pigmentation in an animal—causing white, pale, or patchy coloration of the skin, hair, feathers, scales, or cuticles, but not the eyes. [4] It is occasionally spelled leukism.