Article
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.
Proceedings of the National Academy of Sciences of the United States of America - 1 Feb 1991
Mitchell G A, Labuda D, Fontaine G, Saudubray J M, Bonnefont J P, Lyonnet S, Brody L C, Steel G, Obie C, Valle D
Abstract excerpt
In studies of mutations causing deficiency of ornithine delta-aminotransferase (EC 2.6.1.13), we found an allele whose mature mRNA has a 142-nucleotide insertion at the junction of sequences from exons 3 and 4. The insert derives from an Alu element in ornithine delta-aminotransferase intron 3 oriented in the direction opposite to transcription (an "antisense Alu"). A guanine----cytosine transversion creates a...
Topics
- Amino Acid Sequence
- Cells, Cultured
- DNA Probes
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Oligonucleotide Probes