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Possible role of heterochromatin in human aneuploidy

A hypothesis

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Abstract

It is assumed that late replicating allocyclic segments of human autosomes consist mainly of heterochromatin and might

  1. 1)

    originate in euchromatin at an early embryonic state

  2. 2)

    promote non-disjunction of the corresponding chromosome during an early embryonic mitosis by delaying chromatide separation

  3. 3)

    permit survival of the resulting aneuploidy owing to the relative genetic inertness of heterochromatin.

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References

  • Barton, D. E., F. N. David, and M. Merrington: The positions of the sex chromosomes in the human cell in mitosis. Ann. hum. Genet. 28, 123 (1964).

    Google Scholar 

  • Carr, D. H.: Personal communication 1964.

  • German, J. L.: DNA synthesis in human chromosomes. Trans. N. Y. Acad. Sci. 24, 395 (1962).

    Google Scholar 

  • —, J. Lejeune, M. N. Macintyre, and J. de Grouchy: Chromosomal autoradiography in the cri du chat syndrome. Cytogenetics 3, 347 (1964).

    Google Scholar 

  • Gianelli, F.: Deoxyribonucleic-acid replication pattern of trisomy D1. Lancet 1964/II, 1068.

  • Gilbert, C. W., S. Muldal, L. G. Lajtha, and J. Rowley: Time-sequence of human chromosome duplication. Nature (Lond.) 195, 869 (1962).

    Google Scholar 

  • Grell, R. F.: A new hypothesis on the nature and sequence of meiotic events in the female of Drosophila melanogaster. Proc. nat. Acad. Sci. (Wash.) 48, 165 (1962).

    Google Scholar 

  • — and J. I. Valencia: Distributive pairing and aneuploidy in man. Science 145, 66 (1964).

    Google Scholar 

  • Hösli, P.: Shape and position of the sex chromatin in living human cells. Acta anat. (Basel) 55, 370 (1963).

    Google Scholar 

  • Huehns, E. R., M. Lutzner and F. Hecht: Nuclear abnormalities of the neutrophils in D1 (13–15)-trisomy syndrome. Lancet 1964/I, 589.

  • Lejeune, J., J. Lafourcade, R. Berger, J. Vialatte, M. Boeswillwald, P. Seringe et R. Turpin: Trois cas de délétion partielle des bras courts d'un chromosome 5. C. R. Acad. Sci. (Paris) 257, 3098 (1963).

    Google Scholar 

  • Lyon, M. F.: Gene action in the X-chromosome of the mouse. Nature (Lond.) 190, 372 (1961).

    Google Scholar 

  • —: Sex chromatin and gene action in the mammalian X-chromosome. Amer. J. hum. Genet. 14, 135 (1962).

    Google Scholar 

  • —: Attempts to test the inactive-X theory of dosage compensation in mammals. Genet. Res. 4, 93 (1963).

    Google Scholar 

  • Melander, Y.: Chromosomal behaviour during the origin of sex chromatin in the rabbit. Hereditas (Lund.) 48, 645 (1962).

    Google Scholar 

  • Miller, O. J., B. B. Mukherjee, W. R. Breg, and A. V. N. Gamble: Non-random distribution of chromosomes in metaphase figures from cultured human leucocytes I. The peripheral location of the Y-chromosome. Cytogenetics 2, 1 (1963).

    Google Scholar 

  • —, W. R. Breg, B. B. Mukherjee, A. V. N. Gamble and A. C. Christakos: II. The peripheral location of chromosomes 13, 17–18 and 21. Cytogenetics 2, 152 (1963).

    Google Scholar 

  • Morishima, A., M. M. Grumbach, and J. H. Taylor: Asynchronous duplication of human chromosomes and the origin of sex chromatin. Proc. nat. Acad. Sci. (Wash.) 48, 756 (1962).

    Google Scholar 

  • Müntzing, A.: Cytological studies of extra fragment chromosomes in rye. III. The mechanism of non-disjunction at the pollen mitosis. Hereditas (Lund) 32, 97 (1946).

    Google Scholar 

  • Ohno, S., and S. Makino: The single-X nature of sex chromatin in man. Lancet 1961/I, 78.

  • Powars, D., R. Rhode, and D. Graves: Foetal haemoglobin and neutrophil anomaly in the D1-trisomy syndrome. Lancet 1964/I, 1363.

  • Schmid, W.: DNA replication pattern of human chromosomes. Cytogenetics 2, 175 (1963).

    Google Scholar 

  • Schmid, W.: Personal communication 1965.

  • Therman, E., K. Pätau, D. W. Smith and R. I. de Mars: The D trisomy syndrome and X0 gonadal dysgenesis in two sisters. Amer. J. hum. Genet. 13, 193 (1961).

    Google Scholar 

  • White, M. J. D.: The Chromosomes. London: Methuen 1961.

    Google Scholar 

  • Yunis, J. J., E. B. Hook, and M. Mayer: Deoxyribose-nucleic-acid replication pattern of trisomy 18. Lancet 1964/II, 286.

  • Yunis, J. J., E. B. Hook, and M. Mayer: Deoxyribonucleic-acid replication pattern of trisomy D1. Lancet 1964/I, 935.

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Authors and Affiliations

  1. Children's Hospital, University of Basel, Basel, (Switzerland)

    G. R. Stalder, E. M. Buhler & U. K. Buhler

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  1. G. R. Stalder
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  2. E. M. Buhler
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  3. U. K. Buhler
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Stalder, G.R., Buhler, E.M. & Buhler, U.K. Possible role of heterochromatin in human aneuploidy. Humangenetik 1, 307–310 (1965). https://doi.org/10.1007/BF00395663

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  • DOI: https://doi.org/10.1007/BF00395663

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