Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum
- 1 January 1995
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (4) , 293-295
- https://doi.org/10.1002/humu.1380050404
Abstract
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations have been seen in a single family and the few recurrent mutations occurred in CpG dinucleotides. The presumed deleterious effects of most mutations await confirmation by appropriate expression studies. Once the tertiary structure of the enzyme is fully known, and the functional domains established, the effects of mutations, or lack thereof, could be better predicted.Keywords
This publication has 10 references indexed in Scilit:
- Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyAmerican Journal of Medical Genetics, 1995
- Seven new mutations in the human ornithine transcarbamylase geneHuman Mutation, 1994
- The ornithine transcarbamylase gene: New “Private” mutations in four patients and study of a polymorphismHuman Mutation, 1994
- Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase geneHuman Molecular Genetics, 1993
- For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent intronsHuman Genetics, 1993
- Mutations and polymorphisms in the human ornithine transcarbamylase geneHuman Mutation, 1993
- A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiencyHuman Genetics, 1991
- Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiencyGenomics, 1990
- An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.Journal of Clinical Investigation, 1989
- Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.Journal of Clinical Investigation, 1988