Evidence suggesting a non-random character to nucleotide replacements in naturally occurring mutations |
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| Authors: | W M Fitch |
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| Affiliation: | 1. Institute of Geological Sciences, Palaeontology, Free University Berlin, Malteserstraße 74-100, Building D, 12249 Berlin, Germany;2. Siberian Branch of Russian Academy of Sciences, Institute of Geology and Mineralogy, Prospekt akademika Koptyuga 3, 630090 Novosibirsk, Russian Federation;3. Eurasia Department/Beijing Branch Office, German Archaeological Institute, Im Dol 2-6, 14195 Berlin, Germany;4. Siberian Branch of Russian Academy of Sciences, Institute of Biophysics, Akademgorodok 50, str. 50, 660036 Krasnoyarsk, Russian Federation;1. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia;2. Novosibirsk State University, Novosibirsk, Russia;3. Boreskov Institute of Catalysis, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia;4. Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia;5. FBRI State Research Centre of Virology and Biotechnology ‘Vector’, Koltsovo, Novosibirsk, Russia |
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| Abstract: | One may examine amino acid substitutions resulting from naturally occurring single-step mutations to determine the frequency with which varying nucleotide replacements must have occurred in the gene to account for the phenotypic changes. These may be compared to the frequency of nucleotide replacements one would expect to occur by chance. This has been done for 50 human hemoglobin mutations and for 229 mutations occurring in the phylogenetic descent of cytochrome c. In both cases there is a very significant departure from randomness, which is primarily a reflection of a high incidence of mutations in which a guanine is replaced by an adenine in the codon for the amino acid which is changed. |
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