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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 17 (1981), S. 251-255 
    ISSN: 1432-1432
    Keywords: DNA sequence divergence ; Restriction enzyme maps
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A simulation study has been conducted to check the accuracy of Nei and Li's (1979) formulas for the mean and variance of the proportion (S) of identical restriction sites between two DNA sequences and for estimating the mean and variance of the number (δ) of base substitutions per nucleotide site between two DNA sequences. The results show that these formulas are quite accurate as long as the probability of S becoming zero is negligibly small. In addition to the simulation, approximate formulas have also been obtained for the probability for S to become zero at time t and for the contribution to S due to parallel mutation.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1432
    Keywords: Mutation pattern ; Codon mutation ; Synonymous mutation ; Conservative amino acid change ; Radical change
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary We have obtained a revised estimate of the pattern of point mutation by considering more pseudogene sequences. Compared with our previous estimate, it agrees better with expectations based on the double-strand structure of DNA. The revised pattern, like the previous one, indicates that mutation occurs nonrandomly among the four nucleotides. In particular, the proportion of transitional mutations (59%) is almost twice as high as the value (33%) expected under random mutation. The same high proportion of transitions is observed in synonymous substitutions in genes. The proportion of transitional changes observed among electrophoretic variants of human hemoglobin is about the same as that predicted by the revised pattern of mutation. We also show that nonrandom mutation increases, by about 15%, the proportion of synonymous mutations due to single-nucleotide changes in the codon table, and increases, from 10% to 50%, the rate of synonymous mutation in the seven genes studied. However, nonrandom mutation reduces (by about 10%) the proportion of polar changes among nonsynonymous mutations in a gene. As far as single-nucleotide changes (in the codon table) are concerned, nonrandom mutation only slightly favors relatively conservative amino acid interchanges, and has virtually no effect on the proportions of radical changes and nonsense mutations.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 18 (1982), S. 360-369 
    ISSN: 1432-1432
    Keywords: Neutral mutation ; Transitions and transversions ; Functional constraints ; Base content ; Substitution mutagenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The pattern of point mutations is inferred from nucleotide substitutions in pseudogenes. The pattern obtained suggests that transition mutations occur somewhat more frequently than transversion mutations and that mutations result more often in A or T than in G or C. Our results are discussed with respect to the predictions from Topal and Fresco's model for the molecular basis of point (substitution) mutations (Nature 263:285–289, 1976). The pattern of nucleotide substitution at the first and second positions of codons in functional genes is quite similar to that in pseudogenes, but the relative frequency of the transition C→T in the sense strand is drastically reduced and those of the transversions C→G and G→C are doubled. The differences between the two patterns can be explained by the observation that in the protein evolution amino acid substitutions occur mainly between amino acids with similar biochemical properties (Grantham, Science 185:862–864, 1974). Our results for the patterns of nucleotide substitutions in pseudogenes and in functional genes lead to the prediction that both the coding and non-coding regions of protein coding genes should have high frequencies of A and T. Available data show that the non-coding regions are indeed high in A and T but the coding regions are low in T, though high in A.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 295 (1982), S. 630-630 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Li ET AL. REPLY-Goodman accepts our view that random fixation of neutral alleles occurs at a high rate in such unimportant genes as pseudogenes or in general in functionally less important regions of DNA, but believes that natural selection is a driving force steering protein evolution. He suggests ...
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 292 (1981), S. 237-239 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A pseudogene is a DNA segment with high homology with a functional gene but containing nucleotide changes such as frameshift and nonsense mutations that prevent its expression. (Some authors12 have argued possible functions of pseudogenes, but their arguments are not substantiated.) Pseudogenes ...
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 26 (1981), S. 263-278 
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary With the aim of understanding the mechanism of maintenance of the Rh polymorphism in man, the probability and the first arrival time of an incompatibility mutant allele (recessive alleler) to reach a high frequency by genetic drift in a finite population and the allele frequency distribution under mutation pressure are studied. The deterministic changes in allele frequency in subdivided populations are also studied. The results obtained are as follows: (1) If the effective population size is 500–1,000, the probability of a single mutant allele to reach a frequency of 0.3 or 0.5 is quite small, and without recurrent mutation it is unlikely that the mutant allele becomes polymorphic. However, if the mutant allele happens to increase in frequency by genetic drift, the increase occurs quite rapidly. (2) In an infinitely large population the backward (u) and forward mutations (v) produce two stable equilibria, one of which has a frequency of 0.065 forh=0.05 and a frequency of 0.16 forh=0.01 whenu=v=10−4, whereh is the fitness reduction for the offspring from matingrr×RR. These frequencies are substantially higher than 0 but still lower than the frequencies in the European populations (0.3–0.6). In relatively small populations, however, the probability of the allele frequency being 0.3–0.6 becomes quite high ifh=0.01. (3) If a population is subdivided into subpopulations among which small migration occurs, stable equilibria may be developed. However, the equilibrium gene frequencies do not conform to the frequencies observed in the European populations. When the migration rate becomes higher, the stable equilibria disappear, but the gene frequency change in subdivided populations is generally much slower than that in a single random mating population, so that the Rh polymorphism may be maintained for a long time even if there are no stable equilibria. (4) If we consider all these factors together, it is possible to explain the Rh polymorphism in terms of the mutation-drift hypothesis without recourse to reproductive compensation. It seems that the Rh polymorphism is transient rather than stable.
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  • 7
    Publication Date: 1982-02-01
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Springer Nature
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  • 8
    Publication Date: 1981-07-01
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Springer Nature
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