The Evolution and Gentic Basis of Human Pigmentation

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SUMMARY. Studies in the field of ancient DNA began thirty years ago. Key discoveries proved that ancient DNA is an important tool in the search for difficult answers pertaining to our past. Studies on pigmentation genetics showed that adaptation for different UV radiations was the major factor contributing to the formation of the current pigmentation pattern in Europe, but there is evidence which highlights the additional effect of sexual selection. From the various genes described to play a role in the determination of human skin, hair and eye color, HERC2, SLC24A4 and SLC45A2 seem to be most strongly associated with this phenotypic characteristics. Keywords: ancient DNA, pigmentation genetics, melanin Introduction The DNA of archaeological human remains is an important tool in the search for difficult answers on our past: the evolution and the origin of the human species, the origin of our diseases, the genetics and evolution of our phenotypic characteristics. The first results in this field were obtained in 1985 by Pääbo et al from a 2430 years old Egyptian mummy (Kefi, 2011). This study used bacterial cloning to amplify small, old DNA sequences. With the development of improved techniques such as PCR and new generation sequencing technologies, it became possible to isolate and routinely amplify ancient DNA, and to surmount problems related to the alteration of ancient DNA (Rizzi et. al, 2012). The preservation of ancient DNA depends not only on the age and type of the sample (Grigorenko et. al, 2009), but also on environmental conditions. The alteration of ancient DNA is a consequence of autolysis and microbial degradation, but humidity, high or very variable temperatures and very alkaline or acidic pH also contributes to t... ... middle of paper ... ...d irides, Pigment Cell Melanoma Research 21: 97-105 Walsh, S., Liu, F., Ballantyne, K.N., Oven, M., Lao, O., Kayser, M. (2011) IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry infromation, Forensic Science International: Genetics, 5, 170-180 Walsh, S., Liu, F., Wollstein, A., Kovatsi, L., Ralf, A., Kosiniak-Kamysz, A., Branicki, W., Kayser, M. (2013) The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA, Forensic Science International: Genetics, 7, 98-115 Wang, Y., Li, S.M, Huang, J., Chen, S.Y., Liu, Y.P (2014) Mutation of TYR and MITF genes are associated with plumage colour phenotypes in Geese, Asian-Australasian Journal of Animal Science, 27(6), 778-783 Wasmeier, C., Hume, A.N.,Bolasco, G., Seabra, M.C. (2008) Melanosomes at a glance, Journal of cell science, 121, 3995-3999

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