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Science 5 April 1985:
Vol. 228. no. 4695, pp. 77 - 79
DOI: 10.1126/science.3856322
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Articles

Science, Vol 228, Issue 4695, 77-79
Copyright © 1985 by American Association for the Advancement of Science

articles

Gene transfer and expression of human phenylalanine hydroxylase

FD Ledley, HE Grenett, AG DiLella, SC Kwok, and SL Woo

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
The application of bone marrow transplantation to the treatment of genetic diseases.
R Parkman (1986)
Science 232, 1373-1378
   Abstract »    PDF »
Molecular Basis of Phenylketonuria and Potential Somatic Gene Therapy.
S.L.C. Woo, A.G. DiLella, J. Marvit, and F.D. Ledley (1986)
Cold Spring Harb Symp Quant Biol 51, 395-401
   Abstract »    PDF »


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