CDNA CLONES FOR A REGULATORY PROTEIN IN THE MELANIN-PRODUCTION PATHWAY

Patent No. 5,679,511

Issued: October 21, 1997

Inventor: Byoung Se Kwon, Carmel, IN

Assignee: Donald Guthrie Foundation for Medical Research, Inc., Sayre, PA; and Indiana University Foundation, Bloomington IN


Human tyrosinase is an essential enzyme which regulates the production of melanin, a group of brown of black pigments in the skin and eyes of humans. The lack of a human tyrosinase gene in usable form greatly limited medical research in the field of albinism, and other medical and nonmedical applications relating to the control of pigment production in human melanocyte cells. This invention relates to the discovery of the cDNA gene which expresses human tyrosinase and the applications of this discovery. When the cDNA is fused to an expression vector, the cDNA is useful to produce pure tyrosinase. When used as a cDNA probe the DNA is useful in the production or the control of production of human melanin. As a cDNA probe the cDNA gene is useful for genetic analysis of human albinism and melanotic and amelanotic melanoma, and also prenatal diagnosis of albinism.

 The present invention started when a lambda-gt11 cDNA library of normal human melanocytes was screened with antibodies directed against purified hamster tyrosinase. Two important cDNA clones were isolated: cDNA lambda-mel34 and lambda-mel17-1. It is concluded that lambda-mel34 contained cDNA encoding human tryrosinase. Moreover, the cDNA gene for human tyrosinase was recovered from the lambda-mel34 and can be used for many purposes including the production of pure human tyrosinase.


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