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.
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy / NOLLI, Cecilia; GOFFRINI, Paola; LAZZARETTI, Mirca; Zanna, Claudia; Vitale, Rita; LODI, Tiziana; BARUFFINI, Enrico. - In: MITOCHONDRION. - ISSN 1567-7249. - 25(2015), pp. 38-48. [10.1016/j.mito.2015.10.002]
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