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Surprisingly, mutations affecting editing functions have not been observed in patients.
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Several of the AGS mutations alter residues on the surface of the deaminase domain close to where RNA is predicted to bind (Rice et al., 2012), and it is possible that the D1113H mutation, which affects editing activity the least, alters ADAR1 function in other ways such as by perturbing protein and/or RNA interactions required for suppression of innate immunity.
Hence, the ZF mutations may indirectly affect editing by altering the positions of editosome protein functional domains and perhaps their activities.
Hence, the ZF mutations might directly affect editing by mis-positioning the RNA relative to the functional domains of the editosome proteins.
Many molecular factors could be responsible for these dramatic changes in the mitochondrial mutation rate, including nuclear gene mutations affecting the fidelity and efficacy of mitochondrial DNA replication and/or repair and – consistent with the lack of RNA editing – exceptionally high levels of "mutagenic" retroprocessing.
Mapping of mutations affecting pyoverdine production in Pseudomonas aeruginosa.
Mutations affecting amino sugar metabolism in Escherichia coli K-12.
But what interests him most is homing in on the mutations affecting the cilia.
Tsurusaki, Y. et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Bae, Y. K. et al. Anatomy of zebrafish cerebellum and screen for mutations affecting its development.
Driever, W. et al. A genetic screen for mutations affecting embryogenesis in zebrafish.
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CEO of Professional Science Editing for Scientists @ prosciediting.com