title: Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy.
abstract: 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.
authors.affiliation: Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Nolli
authors.affiliation: Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Goffrini
authors.affiliation: Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy.
authors.forename: Mirca
authors.initials: M
authors.lastname: Lazzaretti
authors.affiliation: Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Via Irnerio 48, 40126 Bologna, Italy; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Zanna
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sensory Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, 70124 Bari, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Vitale
authors.affiliation: Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Lodi
authors.affiliation: Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy. Electronic address: enrico.baruffini@unipr.it.
authors.forename: Enrico
authors.initials: E
authors.lastname: Baruffini
mesh_terms: D004252:DNA Mutational Analysis; D020558:GTP Phosphohydrolases / Q000235:genetics* / Q000378:metabolism*; D019204:GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism*; D020125:Mutation, Missense; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: C082883:MGM1 protein, S cerevisiae; D024101:Mitochondrial Proteins; D011993:Recombinant Fusion Proteins; D029701:Saccharomyces cerevisiae Proteins; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins; C415198:OPA1 protein, human
keywords: DOA; DOA plus; MGM1/OPA1 chimeric constructs; Modeling human mutations; Yeast model