Human pigmentation genetics: the difference is only skin deep.
There is no doubt that visual impressions of body form and color are important in the interactions within and between human communities. Remarkably, it is the levels of just one chemically inert and stable visual pigment known as melanin that is responsible for producing all shades of humankind. Major human genes involved in its formation have been identified largely using a comparative genomics approach and through the molecular analysis of the pigmentary process that occurs within the melanocyte. Three classes of genes have been examined for their contribution to normal human color variation through the production of hypopigmented phenotypes or by genetic association with skin type and hair color. The MSH cell surface receptor and the melanosomal P-protein are the two most obvious candidate genes influencing variation in pigmentation phenotype, and may do so by regulating the levels and activities of the melanogenic enzymes tyrosinase, TRP-1 and TRP-2.
Sturm
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Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia. r.sturm@mailbox.uq.edu.au
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Ramsay
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D000417:Albinism / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D002874:Chromosome Mapping; D005260:Female; D014644:Genetic Variation; D006200:Hair Color / Q000235:genetics; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000235:genetics / Q000502:physiology; D015603:Keratinocytes / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D008543:Melanins / Q000096:biosynthesis*; D008544:Melanocytes / Q000378:metabolism; D020460:Melanosomes / Q000378:metabolism / Q000648:ultrastructure; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics / Q000502:physiology; D010088:Oxidoreductases; D010858:Pigmentation / Q000235:genetics*; D011506:Proteins / Q000235:genetics / Q000502:physiology; D044469:Racial Groups / Q000235:genetics; D011979:Receptors, Pituitary Hormone / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D012880:Skin Pigmentation / Q000235:genetics
D002352:Carrier Proteins; D008543:Melanins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D011506:Proteins; D011979:Receptors, Pituitary Hormone; C076239:P protein, mouse; C029446:MSH receptor; D010088:Oxidoreductases; C489799:TYRP1 protein, human; C079621:Tyrp1 protein, mouse; C064056:tyrosinase-related protein-1; D014442:Monophenol Monooxygenase; D019746:Intramolecular Oxidoreductases; C042501:dopachrome isomerase