Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia
| Autor: | Ichiro Matsuda, Fumio Endo, Takiguchi Masaki, Haraguchi Yougo, Mori Masataka, Uchino Takako |
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| Rok vydání: | 1991 |
| Předmět: |
Male
Molecular Sequence Data Carbamoyl-Phosphate Synthase (Ammonia) Genes Recessive Biology medicine.disease_cause Ammonia Complementary DNA Genetics medicine Humans Amino Acid Sequence Cloning Molecular Amino Acid Metabolism Inborn Errors Peptide sequence Gene Mutation Base Sequence cDNA library General Medicine Molecular biology Mitochondria Blotting Southern Open reading frame genomic DNA Biochemistry Female Primer (molecular biology) |
| Zdroj: | Gene. 107:335-340 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/0378-1119(91)90336-a |
| Popis: | Carbamyl phosphate synthetase I (CPSI) is the first enzyme involved in urea synthesis. CPSI deficiency is an autosomal recessive disorder characterized by hyperammonemic coma in the neonatal period. To analyze the enzyme and gene structures, and to elucidate the nature of mutations in CPSI deficiency, we isolated cDNA clones encoding human liver CPSI. Oligo(dT)-primed and random primer human liver cDNA libraries in lambda gt11 were screened using 5', middle, and 3' fragments of the rat CPSI cDNA as probes. Seven positive clones covered the full-length cDNA sequence with an open reading frame encoding a precursor polypeptide of 1500 amino acids (aa) (deduced Mr, 164,828) with a putative N-terminal presequence of 38 or 39 aa, a 5'-untranslated sequence of 118 bp and a 3'-untranslated sequence of 597 bp. Comparison with the rat CPSI cDNA showed that the deduced aa sequence of the human liver CPSI precursor is 94.4% identical to the rat enzyme precursor. A molecular analysis was made of the genomic DNA from three patients with CPSI deficiency. Heterogeneity of hybridized fragments that may or may not be the cause of the deficiency was apparent on the DNA blots from tissues from one patient. |
| Databáze: | OpenAIRE |
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