Article
Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency.
Journal of biochemistry - 1 Apr 1991
Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K, Fujii-Kuriyama Y
Abstract excerpt
Recent observations have suggested that the pathological mutations in human P-450(C21) deficiency are generated through gene conversion-like events between the functional gene [P-450(21)B] and the pseudogene [P-450(C21)A]. To address this point more extensively, we investigated the effects of the base changes in the A pseudogene on the P-450(21) activity by using the COS cell expression system. In addition to the...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Female
- Genes
- Humans
- Kinetics
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation