ANTHONY AND KONG PAPER - Horn 1 Dr Anthony and Dr Kong...

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Horn 1 Dr. Anthony and Dr. Kong ANSC/POSC 3123 15 October 2007 Tyrosinase: The albino gene Many consider Gregor Mendel, the famed Augustinian monk that brought the world the idea of inheritance, the father of modern genetics. While not recognized during his lifetime, his tremendous work has spanned the globe and paved the way for even more scientific progress. No longer using just garden peas as subjects, contemporary geneticists still apply Mendelian inheritance and ratios to unlock the mysteries of genes since they are inherited in a predictable and measurable fashion (Cummings, 2003). The Tyrosinase gene (TYR) is responsible for the human enzyme tyrosinase, which is a type one integral membrane glycoprotein that contains 529 amino acids. Specifically, the acids encompass a single peptide at the amino end, two copper binding sites, and a transmembrane region at the carboxyl end (Oetting, 2000). Located on the human chromosome 11q14-21, the mutation on the TYR gene can lead to a deficiency in, or absence of, tyrosinase activity. This lack of activity can lead to a defect in the melanin synthesis pathway causing a reduced formation of melanin (Okulicz et al; 2002). The lack or absence of melanin results in a lack of pigment in the eyes, hair, and skin, in addition to reduced visual ability, known as albinism (Oetting et al; 2003). While many forms of albinism occur, the type associated with the human TYR gene is Oculocutaneous Albinism Type 1 (OCA1). With this condition comes a decrease in sunburn protection and a greatly increased chance of developing skin cancer, compared
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Horn 2 to the rest of the population (Zahed et al; 2005). The condition may arise from severe types of mutations such as missense, nonsense, frame shift, splice site, or the entire deletion of the gene (Oetting, 2000). Two types of OCA1 are known and they are OCA1A and OCA1B. The more severe form, OCA1A, results from no Tyrosinase activity. White skin and hair, reduced visual activity, and blue eyes characterize individuals with the disorder. On the other hand, OCA1B patients have mild Tyrosinase activity and may regain pigmentation slowly throughout their lives.
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