Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Timeline
  • Published:

The chromosome number in humans: a brief history

Nature Reviews Genetics volume 7, pages 655–660 (2006)Cite this article

Abstract

Following the rediscovery of Mendel's work in 1900, the field of genetics advanced rapidly. Human genetics, however, lagged behind; this was especially noticeable in cytogenetics, which was already a mature discipline in experimental forms in the 1950s. We did not know the correct human chromosome number in 1955, let alone were we able to detect a chromosomal abnormality. In 1956 a discovery was reported that markedly altered human cytogenetics and genetics. The following is an analysis of that discovery.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Theophilus S. Painter
Figure 2: Camera lucida drawing of a human spermatogonial metaphase made by Theophilus S. Painter.
Figure 3: Albert Levan.
Figure 4: Joe Hin Tjio.
Figure 5: A human metaphase plate, from the original Tjio and Levan paper, showing 46 chromosomes.

References

  1. Correns, C. G. Mendel's Regel über das Verhalten der Nachkommenschaft der Rassenbastarde. Deutsch. Bot. Gesell. 18, 158–168 (1900) (in German).

    Google Scholar 

  2. Tschermak E., Über künstliche Kreuzung bei Pisum sativum. Zeit. Landdev. Versuch. Oest. 3, 465–555 (1900) (in German).

    Google Scholar 

  3. de Vries, H. Sur la loi de disjonction des hybrides. C. R. Acad. Sci. Paris 130, 845–847 (1900) (in French).

    Google Scholar 

  4. Beadle, G. W. & Tatum, E. L. Genetic control of biochemical reactions in Neurospora. Proc. Natl Acad. Sci. USA 27, 499–506 (1941).

    Article  CAS  Google Scholar 

  5. Watson, J. D. & Crick, F. H. C. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 171, 737–738 (1953).

    Article  CAS  Google Scholar 

  6. Galton, F. Natural Inheritance (Macmillan, London, 1889).

    Book  Google Scholar 

  7. Landsteiner, K. Über Agglutinationseigenschaften normaler menschlicher Blute. Wien. Klin. Wochenschr. 14, 1132–1134 (1901) (in German).

    Google Scholar 

  8. Garrod, A. E. Inborn Errors of Metabolism (Oxford Univ. Press, Oxford, 1909).

    Google Scholar 

  9. Pauling, L., Itano, H. A., Singer, S. J. & Wells, I. C. Sickle cell anemia, a molecular disease. Science 110, 543–548 (1949).

    Article  CAS  Google Scholar 

  10. Allison, A. C. Protection afforded by sickle-cell trait against subtertian malarial infection. BMJ 1, 290–294 (1954).

    Article  CAS  Google Scholar 

  11. Smithies, O. Zone electrophoresis in starch gels; group variations in the serum proteins of normal adult human subjects. Biochem. J. 61, 629–641 (1955).

    Article  CAS  Google Scholar 

  12. Jameson, R. J., Lawler, S. D. & Renwick, J. H. Nail–patella syndrome: clinical and linkage data on family G. Ann. Hum. Genet. 20, 348–360 (1956).

    Article  CAS  Google Scholar 

  13. Morton, N. E. Sequential tests for the detection of linkage. Am. J. Hum. Genet. 7, 277–318 (1955).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Tjio, J. H. & Levan, A. The chromosome number of man. Hereditas 42, 1–6 (1956).

    Article  Google Scholar 

  15. Wilson, E. B. The Cell in Development and Inheritance (Macmillan, London, 1896).

    Google Scholar 

  16. Boveri, T. Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns. Verh. Phys–Med Ges. 35, 67–90 (1902) (in German).

    Google Scholar 

  17. Sutton, W. S. The chromosomes in heredity. Biol. Bull. 4, 231–251 (1903).

    Article  Google Scholar 

  18. Oguma, K. & Makino, S. A revised check-list of the chromosome number in vertebrates. J. Genet. 26, 239–254 (1932).

    Article  Google Scholar 

  19. de Winiwarter, H. La formule chromosomale dans l'espèce humaine. C. R. Seances Soc. Biol. Fil. 85, 266 –267 (1921) (in French).

  20. Morgan, T. H. Heredity and Sex (Columbia Univ. Press, New York, 1914).

    Google Scholar 

  21. Painter, T. S. The Y-chromosome in mammals. Science 53, 503–504 (1921).

    Article  CAS  Google Scholar 

  22. Carlson, E. A. Genes, Radiation, and Society. The Life and Work of H. J. Muller (Cornell Univ. Press, Ithaca, New York, 1981).

    Google Scholar 

  23. Painter, T. S. The morphology of the X-chromosome in salivary glands of Drosophila melanogaster and a new type of chromosome map for this element. Genetics 19, 448–469 (1934).

    CAS  PubMed  PubMed Central  Google Scholar 

  24. Painter, T. S. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J. Exp. Zool. 37, 291–336 (1923).

    Article  Google Scholar 

  25. Hsu, T. C. Human and Mammalian Cytogenetics: An historical Perspective (Springer, New York, 1979).

    Book  Google Scholar 

  26. Glass, B. Theophilus Shickel Painter: August 22, 1889–October 5, 1969. Biogr. Mem. Natl Acad. Sci. 59, 309–337 (1990).

    CAS  PubMed  Google Scholar 

  27. Ruddle, F. H. Theophilus Painter: first steps toward an understanding of the human genome. J. Exp. Zool. 301A, 375–377 (2004).

    Article  Google Scholar 

  28. Hultén, M. A. Numbers, bands and recombination of human chromosomes: historical anecdotes from a Swedish student. Cytogenet. Genome Res. 96, 14–19 (2002).

    Article  Google Scholar 

  29. Davenport, C. B. Mendelism in man. Proc. 6th Int. Congr. Genet. 6, 135–140 (1932).

    Google Scholar 

  30. Kottler, M. J. From 48 to 46: cytological technique, preconception and the counting of the human chromosomes. Bull. Hist. Med. 48, 465–502 (1974).

    CAS  PubMed  Google Scholar 

  31. Belling, J. On counting chromosomes in pollen mother cells. Am. Nat. 55, 573–574 (1921).

    Article  Google Scholar 

  32. Mittwoch, U. The chromosome complement in a Mongolian imbecile. Ann. Eugenics 17, 37 (1952).

    CAS  Google Scholar 

  33. Slifer, E. H. Insect development: VI. The behavior of grasshopper embryos in anisotonic, balanced salt solution. J. Exp. Zool. 67, 137–157 (1934)

    Article  CAS  Google Scholar 

  34. Hsu, T. C. Mammalian chromosomes in vitro. I. The karyotype of man. J. Hered. 43, 167–172 (1952).

    Article  Google Scholar 

  35. Hughes, A. Some effects of abnormal tonicity on dividing cells in chick tissue cultures. Quart. J. Microscopical Sci. 93, 207–220 (1952).

    Google Scholar 

  36. Makino, S. & Nishimura, I. Water-pretreatment squash technique: a new and simple practical method for the chromosome study of animals. Stain Technol. 27, 1–7 (1952).

    Article  CAS  Google Scholar 

  37. Ford, C. E. & Hamerton, J. L. The chromosomes of man. Nature 178, 1020–1023 (1956).

    Article  CAS  Google Scholar 

  38. Levan, A. The effect of colchicine on root mitosis in Allium. Heredity 24, 471–486 (1938).

    Article  Google Scholar 

  39. Levan, A. Chromosome studies on some human tumors and tissues of normal origin, grown in vivo and in vitro at the Sloan–Kettering Institute. Cancer 9, 648–663 (1956).

    Article  CAS  Google Scholar 

  40. Harper, P. S. The discovery of the human chromosome number in Lund, 1955–1956. Hum. Genet. 119, 226–232 (2006).

    Article  Google Scholar 

  41. Tjio, J. H. The chromosome number of man. Am. J. Obstet. Gynecol. 130, 723–724 (1978).

    Article  CAS  Google Scholar 

  42. Tjio, J. H. & Puck, T. T. Genetics of somatic mammalian cells. II. Chromosomal constitution of cells in tissue culture. J. Exp. Med. 108, 259–268 (1958).

    Article  CAS  Google Scholar 

  43. McManus, R. NIDDK's Tjio ends distinguished scientific career. NIH Record [online], <http://www.nih.gov/news/NIH-Record/02_11_97/story01.htm> (2 Feb 1997).

    Google Scholar 

  44. Carle, G. F. & Olson, M. V. An electrophoretic karyotype for yeast. Proc. Natl Acad. Sci. USA 82, 3756–3760 (1985).

    Article  CAS  Google Scholar 

  45. Lejeune, J., Gautier, M. & Turpin, R. Etude des chromosomes somatiques de neuf enfant mongoliens. Compt. Rend. 248, 1721–1722 (1959) (in French).

    CAS  Google Scholar 

  46. Ford, C. E., Jones, K. W., Polani, P. E., De Almeida, J. C. & Briggs, J. H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet I, 711–713 (1959).

  47. Jacobs, P. A. & Strong, J. A. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183, 302–303 (1959).

    Article  CAS  Google Scholar 

  48. Jacobs, P. A., Baikie, A. G., MacGregor, T. N. & Harndon, D. G. Evidence for the existence of the human 'super female'. Lancet II, 423–425 (1959).

    Article  Google Scholar 

  49. Sandberg, A. A., Koepf, G. F., Isihara, T. & Hauschka, T. S. An XYY human male. Lancet II, 488–489 (1961).

  50. Nowell, P. C. Phytohemagglutinin: an initiator of mitosis in cultures of normal human leucocytes. Cancer Res. 20, 462–466 (1960).

    CAS  Google Scholar 

  51. Nowell, P. C. & Hungerford, D. A. A minute chromosome in human chronic granulocytic leukemia. Science 132, 1497 (1960).

    Google Scholar 

  52. Caspersson, T., Zech, L. & Johansson, J. Differential banding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60, 315–319 (1970).

    Article  CAS  Google Scholar 

  53. Hultén, M. Chiasma distribution at diakinesis in the normal human male. Hereditas 76, 55–78 (1974).

    Article  Google Scholar 

  54. Rowley, J. D. A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining. Nature 243, 290–293 (1973).

    Article  CAS  Google Scholar 

  55. Harris, H. & Watkins, J. F. Hybrid cells derived from mouse and man: artificial heterokaryons of mammalian cells from different species. Nature 205, 640–646 (1965).

    Article  CAS  Google Scholar 

  56. Ephrussi, B. & Weiss, M. C. Interspecific hybridization of somatic cells. Proc. Natl Acad. Sci. USA 53, 1040–1042 (1965).

    Article  CAS  Google Scholar 

  57. Weiss, M. C. & Green, H. Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes. Proc. Natl Acad. Sci. USA 58, 1104–1111 (1967).

    Article  CAS  Google Scholar 

  58. Morton, C. C., Kirsch, I. R., Taub, R., Orkin, S. H. & Brown, J. A. Localization of the β-globin gene by chromosomal in situ hybridization. Am. J. Hum. Genet. 36, 576–585 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

I thanks my colleagues, A. Motulsky and R.S. Hansen, for careful reading of the manuscript. The work in the author's laboratory is supported by a grant from the US National Institutes of Health.

Author information

Authors and Affiliations

  1. Departments of Medicine and Genome Sciences, University of Washington, Seattle, 98195, Washington, USA

    Stanley M. Gartler

Authors
  1. Stanley M. Gartler
    View author publications

    You can also search for this author in PubMed Google Scholar

Ethics declarations

Competing interests

The author declares no competing financial interests.

Related links

Related links

DATABASES

OMIM

chronic myelogenous leukaemia

Down syndrome

Turner syndrome

FURTHER INFORMATION

Gartler's homepage

Human Genome Project

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gartler, S. The chromosome number in humans: a brief history. Nat Rev Genet 7, 655–660 (2006). https://doi.org/10.1038/nrg1917

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrg1917

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing