Funtionally Relevant Genetic Polymorphisms in the Human 3'-Phosphoadenosine 5'-Phosphosulfate Synthetase 1 (PAPSS1) Gene

Reference #:

2001-139

Inventors/Contributors

Richard M. Weinshilboum, M.D., Bruce W. Eckloff, Bianca A. Thomae, Eric D. Wieben, Ph.D., Zhen-Hua Xu, M.D., Ph.D.

Description

There are two separate 3'-phosphoadenosine 5'-phosphosulfate synthetase (PAPSS) isoforms in humans (PAPSS1 and PAPSS2). Both isoforms catalyze the formation of PAPS, the universal high-energy sulfate donor for all sulfotransferases. Functionally relevant PAPSS1 polymorphisms have been discovered that decrease PAPSS1 activity and result in undersulfation of drugs, procarcinogens, glycoproteins and other macromolecules, and, therefore, lead to susceptibility to chondrodysplasia, osteoarthritis, carcinogenisis and drug toxicity.

Patent Status

	U.S. Patent Number 7,067,311 Issued June 27, 2006 U.S. Patent Number 7,288,399 Issued October 30, 2007