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Ledley, FD, Grenett, HE, DiLella, AG, Kwok, SC and Woo, SL (1985) Gene transfer and expression of human phenylalanine hydroxylase. Science 228:77-9


Phenylketonuria (PKU) is caused by a genetic deficiency of the enzyme phenylalanine hydroxylase (PAH). A full-length complementary DNA clone of human PAH was inserted into a eukaryotic expression vector and transferred into mouse NIH3T3 cells which do not normally express PAH. The transformed mouse cells expressed PAH messenger RNA, immunoreactive protein, and enzymatic activity that are characteristic of the normal human liver products, demonstrating that a single gene contains all of the necessary genetic information to code for functional PAH. These results support the use of the human PAH probe in prenatal diagnosis and detection of carriers, to provide new opportunities for the biochemical characterization of normal and mutant enzymes, and in the investigation of alternative genetic therapies for PKU.




Animals; Cell Line; Cloning, Molecular; DNA, Recombinant/metabolism; Genetic Engineering; Humans; Mice; Nucleic Acid Hybridization; Phenylalanine Hydroxylase/genetics; Phenylketonurias/diagnosis; Phenylketonurias/genetics; Prenatal Diagnosis; Rats