Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450
| Autor: | Yanase Toshihiko, Matsui Nobuo, Michael R. Waterman, Evan R. Simpson, Kagimoto Masaaki |
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| Rok vydání: | 1988 |
| Předmět: |
Adult
Cytochrome Mutant Molecular Sequence Data Biochemistry Exon Endocrinology Cytochrome P-450 Enzyme System medicine Humans Amino Acid Sequence RNA Messenger Codon Molecular Biology Gene Amenorrhea Aldehyde-Lyases chemistry.chemical_classification biology Adrenal Hyperplasia Congenital Base Sequence Adrenal cortex Point mutation Ovary Exons Molecular biology Stop codon Amino acid Blotting Southern medicine.anatomical_structure chemistry Hypertension Mutation Steroid Hydroxylases biology.protein Adrenal Cortex Osteoporosis Female |
| Zdroj: | Molecular and cellular endocrinology. 59(3) |
| ISSN: | 0303-7207 |
| Popis: | Steroid 17 alpha-hydroxylase (cytochrome P-450(17)alpha) mediates both 17 alpha-hydroxylase and 17,20-lyase activities. A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. The molecular basis for variability of the defect is not well understood. We have determined the exonic sequence of the mutant P-450(17)alpha gene from one Japanese patient with combined 17 alpha-hydroxylase/17,20-lyase deficiencies. A stop codon (TGA) due to a single point mutation was found at the position of amino acid 17 in exon 1 of the P-450(17)alpha gene. The presence of a stop codon in the N-terminal region of this gene leads to the absence of a functional P-450(17)alpha protein in adrenal cortex and ovary, and consequently hypertension, primary amenorrhea and osteoporosis in this patient. |
| Databáze: | OpenAIRE |
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