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Sequence refinement of the human tyrosinase clone (oculocutaneous albinism OCA 1A)

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Abstract

Human tyrosinase is often described. Mainly the mutant form, contributing to different forms of albinism appears in literature. This mutant results in a total or parcial lack of color in skin, eyes and hair, occuring among many species. This form of tyrosinase is non-functional. Normal human tyrosinase shows phenole oxidase activity and converts tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA) and further to dopachrome and is a part of the melanin biosynthesis pathway. There has been a sequence published of the oculocutaneous albinism (OCA 1A) form of human tyrosinase. But the correct sequence is often not known because of base insertions, deletions or single nucleotide polymorphisms (SNPs). This paper wants to contribute to the research about that topic and provides the new and corrected sequence of the human tyrosinase clone of oculocutaneous albinism (OCA 1A).

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References

  1. R.A. King, J. Pietsch, J.P. Fryer, S. Savage, M.J. Brott, I. Russell-Eggitt, C.G. Summers, W.S. Oetting, Genetics 113 (2003) 502.

    CAS  Google Scholar 

  2. O. Carmand, D. Marchant, S. Boutboul, M. Péquignot, S. Odent, H. Dollfus, J. Sutherland, A. Levin, M. Menasche, C. Marsac, J.L. Dufier, E. Heon, M. Abitbol, Human Mutation 17 (2001) 352.

    Google Scholar 

  3. L.B. Giebel, R.K. Tripathi, R.A. King, R.A. Spritz, J. Clin. Invest. 87 (1990) 1119.

    Google Scholar 

  4. B.S. Kwon, A.K. Haq, S.H. Pomerantz, R. Halaban, Proc. Natl. Acad. Sci. USA. 84 (1987) 7473.

    CAS  Google Scholar 

  5. A. Takeda, J. Matsunaga, Y. Tomita, H. Tagami, S. Shibahara, Tohoku J. Exp. Med. 163 (1991).

  6. G. Stevens, J. van Beukering, T. Jenkins, M. Ramsay, Am. J. Hum. Genet. 56 (1995) 586.

    CAS  Google Scholar 

  7. F. Sanger, S. Micklen, A.R. Coulson, Proc. Natl. Acad. Sci. USA 74 (1977) 5463.

    CAS  Google Scholar 

  8. R.L. Strausberg, E.A. Feingold, L.H. Grouse, J.G. Derge, R.D. Klausner, F.S. Collins, Proc. Natl. Acad. Sci. USA 99 (2002) 16899.

    Google Scholar 

  9. T. Vincze, J. Posfai, R.J. Roberts, Nucl. Acids Res. 31 (2003) 3688.

    CAS  Google Scholar 

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Authors and Affiliations

  1. Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, I. R. Iran

    R. J. Heinrich, A. A. Saboury & A. A. Moosavi-Movahedi

  2. Department of Genetics, Faculty of Sciences, Tarbiat Modarres University, Tehran, I. R. Iran

    M. Sadeghi-Zadeh

Authors
  1. R. J. Heinrich
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  2. A. A. Saboury
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  3. M. Sadeghi-Zadeh
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  4. A. A. Moosavi-Movahedi
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Correspondence to R. J. Heinrich.

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Heinrich, R.J., Saboury, A.A., Sadeghi-Zadeh, M. et al. Sequence refinement of the human tyrosinase clone (oculocutaneous albinism OCA 1A). JICS 5, 519–521 (2008). https://doi.org/10.1007/BF03246011

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  • DOI: https://doi.org/10.1007/BF03246011

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