Nonsense mutation causing steroid 21-hydroxylase deficiency.
Open Access
- 1 July 1988
- journal article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 82 (1), 139-144
- https://doi.org/10.1172/JCI113562
Abstract
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to result in a completely nonfunctional enzyme due to premature termination of translation. In addition, when the cloned mutant gene was transfected into mouse Y1 adrenal cells, the resulting mRNA levels were decreased compared with transfected normal CYP21B genes. This mutation was carried by 3 of 20 unrelated patients with 21-hydroxylase deficiency alleles as determined by hybridization with a specific oligonucleotide probe. This mutation is also seen in the normal CYP21A pseudogene, so that its presence in the abnormal CYP21B gene may be the result of a gene conversion event.This publication has 34 references indexed in Scilit:
- Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.Proceedings of the National Academy of Sciences of the United States of America, 1988
- Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.Proceedings of the National Academy of Sciences of the United States of America, 1983
- α1-Antitrypsin deficiency detection by direct analysis of the mutation in the geneNature, 1983
- A reliable method for the recovery of DNA fragments from agarose and acrylamide gelsAnalytical Biochemistry, 1981
- A highly polymorphic locus in human DNA.Proceedings of the National Academy of Sciences of the United States of America, 1980
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979
- beta 0 thalassemia, a nonsense mutation in man.Proceedings of the National Academy of Sciences of the United States of America, 1979
- [19] In Vitro packaging of λ and cosmid DNAMethods in Enzymology, 1979
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences of the United States of America, 1977
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975