Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy
- Resource Type
- Authors
- Paola Goffrini; Mirca Lazzaretti; Cecilia Nolli; Enrico Baruffini; Claudia Zanna; Rita Vitale; Tiziana Lodi
- Source
- ResearcherID
- Subject
- endocrine system
Saccharomyces cerevisiae Proteins
Recombinant Fusion Proteins
Saccharomyces cerevisiae
DNA Mutational Analysis
Mutation, Missense
DOA
Chimeric gene
Biology
GTP Phosphohydrolases
GTP Phosphohydrolase
DNA Mutational Analysi
Mitochondrial Proteins
Atrophy
GTP-Binding Proteins
Optic Atrophy, Autosomal Dominant
medicine
Mitochondrial Protein
Missense mutation
Humans
Molecular Biology
Yeast model
Dominance (genetics)
Genetics
Medicine (all)
Modeling human mutation
DOA plu
Cell Biology
medicine.disease
biology.organism_classification
MGM1/OPA1 chimeric construct
Fusion protein
eye diseases
Yeast
Molecular Medicine
Haploinsufficiency
Saccharomyces cerevisiae Protein
GTP-Binding Protein
Human
Recombinant Fusion Protein
- Language
Mutations in OPA1 are associated with DOA or DOA plus. Novel mutations in OPA1 are periodically identified, but often the causative effect of the mutation is not demonstrated. A chimeric protein containing the N-terminal region of Mgm1, the yeast orthologue of OPA1, and the C-terminal region of OPA1 was constructed. This chimeric construct can be exploited to evaluate the pathogenicity of most of the missense mutations in OPA1 as well as to determine whether the dominance of the mutation is due to haploinsufficiency or to gain of function.