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PMID:3856322

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Citation

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

Abstract

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.

Links

PubMed

Keywords

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

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:PH4H

involved_in

GO:0008652: cellular amino acid biosynthetic process

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:PH4H

enables

GO:0004505: phenylalanine 4-monooxygenase activity

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete


See also

References

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