Summary
Using information from human hemoglobin variants, different hemoglobin chains, cytochrome c, insulin molecules, labile parts of humanγ-globulin, (ϰ-, λ-, and H-chains) and tobacco mosaic virus coat proteins, some aspects of point mutations were examined.
The main results:
-
1.
All recent hemoglobin variants characterized by one amino acid substitution can be explained by one single base replacement. Of the amino acid substitutions in the other proteins, many more can be accounted for in this way than expected if substitution occured at random.
-
2.
Within the human hemoglobinα-, β-, γ-, andδ-cistrons, a number of codons can be excluded.
-
3.
When origin and direction of base replacements are taken into account, transitions cytosine → thymine (C→T) and thymine → cytosine (T→C) turn out to occur much more often than expected if replacements would occur at random. They are also more frequent than the corresponding transitions guanine → adenine (G→A) and adenine → guanine (A→G). This trend can be observed in all cistrons examined. It cannot be explained by obvious biases in the ascertainment of amino acid substitutions. It points to a relationship between mutation and coding, that cannot be explained on the basis of our present knowledge of the molecular processes involved in replication, mutation, repair, and transscription. Transversions, on the other hand (replacements of a purine by a pyrimidine or vice versa) seem to occur at random.
-
4.
There is no evidence for clustering of point mutations in the same or in neighbouring codons of the abnormal human hemoglobinα- andβ-cistrons.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Beale, D., Lehmann, H.: Nature (Lond.)207, 259–261 (1965).
Braunitzer, G.: Naturwissenschaften15/16, 407–417 (1967).
Bresch, C., Hausmann, R.: Klassische und molekulare Genetik. Berlin-Heidelberg-New York: Springer 1970.
Dayhoff, M. O. (ed.): Atlas of protein sequence and structure, vol. 4. Silver Spring/Maryland: The National Biochemical Research Foundation 1969.
Dellweg, B.: Dtsch. med. Wschr.92, 1826–1831 (1967).
Derancourt, J., Lebor, A. S., Zuckerkandl, E.: Bull. Soc. Chim. biol. (Paris)49, 577 (1967).
Epstein, C. J.: Nature (Lond.)210, 25 (1966).
Fitch, W. M.: J. molec. Biol.26, 499–507 (1967).
Fitch, W. M.: In: Haematologie und Bluttransfusionen. München: Lehmann 1972 (in press).
Freese, E., Yoshida, A.: In: Evolving genes and proteins, p. 341. Ed.: V. Bryson and H. J. Vogel. New York: Academic Press 1965.
Günther, E., Albert, E., Kueppers, F., Bender, K: Humangenetik14, 173–195 (1972).
Hilschmann, N., Barnikol, H. V., Hess, M., Langer, B., Ponstingl, H., Steinmetz-Kayke, M., Suter, L., Watanable, S.: In: Structure and formation of antibodies. Bayer-Symposium I. Current problems in immunology, p. 69–89. Berlin-Heidelberg-New York: Springer 1969.
Holmquist, R.: J. molec. Evolution1, 134–149 (1972).
Kimura, M., Ohta, T.: J. molec. Evolution1, 1–17 (1971).
Lehmann, H.: Primärstruktur des Hämoglobins im Verstehen der Funktion. Die Hämoglobinvarianten. (In press.)
Lehmann, H., Carell, R. W.: Brit. med. Bull.25, 14–23 (1969).
Rahmel, V.: Mathematische Analyse eines Code-Problems aus der Molekularbiologie. Göttingen: Unpubl. Staatsexamensarbeit 1968.
Siegel, S.: Nonparametric statistics for the behavioural science. New York-Toronto-London: McGraw-Hill Book Company 1956.
Spiegelman, S. Watson, K. F., Kavian, D. L.: Proc. nat. Acad. Sci. (Wash.)68, 2843–2845 (1971).
Vogel, F.: Humangenetik8, 1–26 (1969).
Vogel, F.: Spontaneous mutations in man. In: Chemical mutagenesis in mammals and man (eds. F. Vogel and G. Röhrborn), p. 16–68. Berlin-Heidelberg-New York: Springer 1970.
Vogel, F., Röhrborn, G.: Humangenetik1, 635–650 (1965).
Vogel, F., Röhrborn, G.: Nature (Lond.)210, 116–117 (1966).
Woolf, B.: Ann. hum. Genet.19, 251–253 (1955).
Zuckerkandl, E., Derancourt, J., Vogel, H.: J. molec. Biol.59, 473–490 (1971).
Zuckerkandl, E., Pauling, L.: In: Evolving genes and proteins. V. Bryson and H. J. Vogel, eds., p. 97–166. New York: Academic Press 1965.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Vogel, F. Non-randomness of base replacement in point mutation. J Mol Evol 1, 334–367 (1972). https://doi.org/10.1007/BF01653962
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01653962