Delettre, Cecile and Griffoin, Jean-Michel and Kaplan, Josseline and Dollfus, Helene and Lorenz, Birgit and Faivre, Laurence and Lenaers, Guy and Belenguer, Pascale and Hamel, Christian P. (2001) Mutation spectrum and splicing variants in the OPA1 gene. HUMAN GENETICS, 109 (6). pp. 584-591. ISSN 0340-6717
Full text not available from this repository. (Request a copy)Abstract
Optic atrophy type I (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy. Here we report that OPA1 has eight mRNA isoforms as a result of the alternative splicing of exon 4 and two novel exons named 4b and 5b. In addition, we screened a cohort of 19 unrelated patients with dominant optic atrophy by direct sequencing of the 30 OPA1 exons (including exons 4b and 5b) and found mutations in 17 (89%) of them of which 8 were novel. A majority of these mutations were truncative (65%) and located in exons 8 to 28, but a number of them were amino acid changes predominantly found in the GTPase domain (exons 8 to 15). We hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DOMINANT OPTIC ATROPHY; DYNAMIN-RELATED PROTEIN; CHROMOSOME 3Q REGION; CLINICAL-FEATURES; LINKAGE ANALYSIS; COILED-COILS; KJER TYPE; LOCUS; FAMILY; YEAST; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Nov 2021 06:24 |
| Last Modified: | 24 Nov 2021 06:24 |
| URI: | https://pred.uni-regensburg.de/id/eprint/40900 |
Actions (login required)
 |
View Item |
