Gene transfer and expression of human ornithine aminotransferase. 1989

Y Hotta, and G Inana
Molecular Pathology Section, National Eye Institute, Bethesda, Maryland 20892.

A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT), is present in the hereditary blinding disease, gyrate atrophy (GA). Because the OAT gene is a multi-gene family, and the native OAT enzyme is an oligomer, it would be important to identify the gene locus actually responsible for the OAT activity and affected in GA. A mammalian expression clone containing a previously characterized human OAT cDNA (pHOAT), corresponding to the OAT gene on chromosome 10, was prepared (pcDHOAT), transfected, and tested for expression in NIH3T3 cells and OAT(-) Chinese hamster ovary (CHO) cells. Incorporation of pcDHOAT and synthesis of human OAT mRNAs and active enzyme were demonstrated in both cell types, confirming the completeness of the coding sequence of pHOAT. The results indicated that the chromosome 10 gene corresponding to the cDNA is the functional gene fully capable of expressing the active oligomeric enzyme by itself and is, therefore, consistent with being the site of the molecular defect in GA.

UI MeSH Term Description Entries
D009953 Ornithine-Oxo-Acid Transaminase A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13. Ornithine Aminotransferase,Ornithine Transaminase,L-Ornithine-2-Oxo-Acid Aminotransferase,L-Ornithine-2-Oxoglutarate Aminotransferase,Ornithine Ketoacid Aminotransferase,Ornithine-2-Ketoglutarate Aminotransferase,Ornithine-Keto-Acid-Transaminase,Ornithine-Ketoacid-Transaminase,Pyrroline-5-Carboxylate Synthase,Aminotransferase, L-Ornithine-2-Oxo-Acid,Aminotransferase, L-Ornithine-2-Oxoglutarate,Aminotransferase, Ornithine,Aminotransferase, Ornithine Ketoacid,Aminotransferase, Ornithine-2-Ketoglutarate,Ketoacid Aminotransferase, Ornithine,L Ornithine 2 Oxo Acid Aminotransferase,L Ornithine 2 Oxoglutarate Aminotransferase,Ornithine 2 Ketoglutarate Aminotransferase,Ornithine Keto Acid Transaminase,Ornithine Ketoacid Transaminase,Ornithine Oxo Acid Transaminase,Pyrroline 5 Carboxylate Synthase,Synthase, Pyrroline-5-Carboxylate,Transaminase, Ornithine,Transaminase, Ornithine-Oxo-Acid
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D006224 Cricetinae A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS. Cricetus,Hamsters,Hamster
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000637 Transaminases A subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins. (Dorland, 28th ed) EC 2.6.1. Aminotransferase,Aminotransferases,Transaminase
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D012333 RNA, Messenger RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated
D014162 Transfection The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES. Transfections

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