Journal of the History of Biology

, Volume 51, Issue 4, pp 631–655 | Cite as

Whose Turn? Chromosome Research and the Study of the Human Genome

  • Soraya de ChadarevianEmail author
Open Access


A common account sees the human genome sequencing project of the 1990s as a “natural outgrowth” of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors – the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function – to understand the rise of the human genome sequencing project and the current genomic practices. In particular, it proposes that what has often been described as the “molecularization” of cytogenetics could equally well be viewed as the turn of molecular biologists to human and medical genetics – a field long occupied by cytogeneticists. These considerations also have implications for the archives that are constructed for future historians and policy makers.


Cytogenetics Molecular biology Population studies Gene mapping Human genetics Human genome project Molecularization 



I wish to thank Christopher Donohue for the invitation to participate at the workshop Capturing the History of Genomics in Bethesda, MD in April 2015 and providing the brief for the talk on which this article is based as well as for facilitating access to the archival and digitized materials at the National Human Genome Research Institute Archive. Thank you also to the other participants of the meeting for vigorous discussion and to the incisive comments of two anonymous referees that helped give the essay its final shape. Research for the larger project on which this essay is based was supported by a Scholar Award from the National Science Foundation (No. 1534814, 2015–17).


  1. Barnicot, N. A. and P. J. Travers. 1963. Comparison of the human karyotype in various populations. In Proceedings of the Second International Congress of Human Genetics, Rome, September 612, 1961, volume II. Rome: Istituto G. Mendel, pp. 1164–1166.Google Scholar
  2. Beatty, J. 2000. “Origins of the U.S. Human Genome Project: Changing Relationships Between Genetics and National Security.” P. R. Sloan (ed.), Controlling Our Destinies: Historical, Philosophical, Ethical, and Theological Perspectives on the Human Genome Project. Notre Dame, Indiana: University of Notre Dame Press.Google Scholar
  3. Beckwith, J. and King, J. 1974. “The XYY Syndrome: A Dangerous Myth.” New Scientist 64: 474–476.Google Scholar
  4. Bell, J. and Haldane, J. B. S. 1937. “Blindness and Haemophilia in Man.” Proceedings of the Royal Society of London B 123: 119–150.CrossRefGoogle Scholar
  5. Beurton, P. J., Falk, R. and Rheinberger, H.-J. (eds.). 2000. The Concept of the Gene in Development and Evolution: Historical and Epistemological Perspectives. Cambridge: Cambridge University Press.Google Scholar
  6. Bostanci, A. 2004. “Sequencing Human Genomes.” J.-P. Gaudillère and H.-J. Rheinberger (eds.), From Molecular Genetics to Genomics: The Mapping Cultures of Twentieth-Century Genetics. London: Routledge, pp. 158–179.Google Scholar
  7. Campos, L. 2008. Genetics Without Genes: Blakeslee, Datura, and ‘Chromosomal Mutations’. A Cultural History of Heredity IV: Heredity in the Century of the Gene. Preprints of the Max-Planck Institute for the History of Science, No 343. Berlin: Max Planck Institute for the History of Science, pp. 243–258.Google Scholar
  8. Cavalli-Sforza, L. et al. 1969. Studies on African Pygmies. I. “A Pilot Investigation of Babinga Pygmies in the Central African Republic (With an Analysis of Genetic Distances).” American Journal of Human Genetics 21(3): 252–74.
  9. Cavalli-Sforza, L. L., et al. 1991. “Call for a Worldwide Survey of Human Diversity: A Vanishing Opportunity for the Human Genome Project.” Genomics 11: 490–491.CrossRefGoogle Scholar
  10. Chandra, H. S. and Hungerford, D. A. 1966. “Chromosome Studies of Todas of Southern India.” Human Biology 38: 194–198.Google Scholar
  11. Cook-Deegan, R. 1994. The Gene Wars: Science, Politics, and the Human Genome. New York and London: Norton & Co.Google Scholar
  12. Court Brown, W. M. and Doll, R. 1956. “Appendix B: Leukaemia and Aplastic Anaemia in Patients Treated with X-rays for Ankylosing Spondylitis.” In The Hazards to Man of Nuclear and Allied Radiations, Medical Research Council. London: Her Majesty’s Stationery Office. Cmd 9780, pp. 87–89.Google Scholar
  13. Court Brown, W., Harnden, D., MacLean, N. and Mantle, D. 1964. Abnormalities of the Sex Chromosome Complement in Man. Privy Council Medical Research Council Special Report Series No. 305. London: Her Majesty’s Stationery Office.Google Scholar
  14. Curry, H. A. 2010. “Making Marigolds: Colchicine, Mutation Breeding, and Ornamental Horticulture, 1937–1950.” L. Campos and A. von Schwerin (eds.), Making Mutations: Objects, Practices, Contexts. Preprint 393. Berlin: Max Planck Institute for the History of Science, pp. 259–284.Google Scholar
  15. Curry, H. A. 2016. Evolution Made to Order: Plant Breeding and Technological Innovation in Twentieth-Century America. Chicago: University of Chicago Press.Google Scholar
  16. de Chadarevian, S. Forthcoming. Heredity Under the Microscope.Google Scholar
  17. de Chadarevian, S. 2010. “Mutations in the Atomic Age.” L. Campos and A. V. Schwerin (eds.) Making Mutations: Objects, Practices, Contexts. Berlin: Max Planck Institute for the History of Science. Preprint 393, pp. 179–188.Google Scholar
  18. de Chadarevian, S. 2015a. “Chromosome Photography and the Recount of Human Chromosomes.” Historical Studies in Natural Sciences 45: 115–146.CrossRefGoogle Scholar
  19. de Chadarevian, S. 2015b. “Human Population Studies and the World Health Organization.” Dynamis 35: 359–388.CrossRefGoogle Scholar
  20. Editorial. 1959. “The Chromosomes of Man.” Lancet 273(7075): 715–716.CrossRefGoogle Scholar
  21. Ferguson-Smith, M. A. 1993. “From Chromosome Number to Chromosome Map: The Contribution of Human Cytogenetics to Genome Mapping.” A. Sumner and A. Chandley (eds.) Chromosomes Today, 11 vols. London: Chapman & Hall, pp. 3–19.CrossRefGoogle Scholar
  22. Ford, C. and Hamerton, J. 1956. “The Chromosomes of Man.” Nature 178: 1010–1023.CrossRefGoogle Scholar
  23. Fortun, M. A. 1999. “Projecting Speed Genomics.” M. Fortun and E. Mendelsohn (eds.) The Practices of Human Genetics, vol. 21. Sociology of the Sciences Yearbook. Dordrecht: Kluwer, pp. 25–48.Google Scholar
  24. Gaudillière, J.-P. 2000. “Whose Work Shall We Trust? Geneticists, Pediatrics, and Hereditary Diseases in Postwar France.” P. Sloan (ed.), Controlling Our Destinies: Historical, Philosophical, Ethical, and Theological Perspectives on the Human Genome Project. Notre Dame: University of Notre Dame Press, pp. 17–46.Google Scholar
  25. Green, J. 1985. “Media Sensationalisation and Science: The Case of the Criminal Chromosome.” T. Shinn and R. Whitley (eds.), Expository Science: Forms and Functions of Popularisation. Boston: D. Reidel, pp. 139–161.CrossRefGoogle Scholar
  26. Haldane, J. B. S. 1936. “A Provisional Map of a Human Chromosome.” Nature 137: 398–400.CrossRefGoogle Scholar
  27. Haldane, J. B. S. 1948. “The Formal Genetics of Man.” Proceeding of the Royal Society of London B 153: 147–170.Google Scholar
  28. Hamerton, J. L. 1975. “Human Cytogenetic Registries.” Humangenetik 29: 177–181.Google Scholar
  29. Harman, O. S. 2004. The Man Who Invented the Chromosome: A Life of Cyril Darlington. London: Harvard University Press.Google Scholar
  30. Harper, P. S. 2006. First Years of Human Chromosomes: The Beginning of Human Cytogenetics. Bloxham: Scion Publishing.Google Scholar
  31. Harris, H. 1995. The Cells of the Body: A History of Somatic Cell Genetics. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.Google Scholar
  32. Hilgartner, S. 2013. “Constituting Large-Scale Biology: Building a Regime of Governance in the Early Years of the Human Genome Project.” BioSocieties 8: 397–416.CrossRefGoogle Scholar
  33. Hogan, A. J. 2016. Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics. Baltimore, MD: Johns Hopkins University Press.Google Scholar
  34. Hsu, T. 1979. Human and Mammalian Cytogenetics: An Historical Perspective. New York: Springer.CrossRefGoogle Scholar
  35. Hungerford, D. A. 1978. “Some Early Studies of Human Chromosomes, 1879–1955.” Cytogenetics and Cell Genetics 20: 1–11.CrossRefGoogle Scholar
  36. Hungerford, D. A. et al. 1969. “Chromosome Studies of the Ainu Population of Hokkaido.” Cytogenetics 8: 74–79.CrossRefGoogle Scholar
  37. Hungerford, D. A., Giles, E. and Creech, C. G. 1965. “Chromosome Studies of Eastern New Guinea Natives.” Current Anthropology 6: 109–110.CrossRefGoogle Scholar
  38. Jensen, A. 1969. “How Much Can We Boost IQ and School Achievement?” Harvard Educational Review 39: 1–123.CrossRefGoogle Scholar
  39. Judson, H. F. 1992. “A History of the Science and Technology Behind Gene Mapping and Sequencing.” D. J. Kevles and L. Hood (eds.), The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge, MA: Harvard University Press, pp. 37–80.Google Scholar
  40. Keller, E. 2000. The Century of the Gene. Cambridge, MA: Harvard University Press.Google Scholar
  41. Kevles, D. J. 1992. “Out of Eugenics: The Historical Politics of the Human Genome Project.” D. J. Kevles and L. Hood (eds.), The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge, MA: Harvard University Press, pp. 3–36.Google Scholar
  42. Kevles, D. J. 1995. In the Name of Eugenics: Genetics and the Uses of Human Heredity. With a New Preface by the Author. New York: Harvard University Press.Google Scholar
  43. Kottler, M. J. 1974. “From 48 to 46: Cytological Technique, Preconception, and the Counting of Human Chromosomes.” Bulletin of the History of Medicine 48: 465–502.Google Scholar
  44. Kowal, E. and Radin, J. 2015. “Indigenous Biospecimen Collections and the Cryopolitics of Frozen Life.” Journal of Sociology 51(1): 63–80.CrossRefGoogle Scholar
  45. Lima-de-Faria, A. 2003. One Hundred Years of Chromosome Research and What Remains to be Learned. Dordrecht and Boston: Kluwer Academic Publishers.CrossRefGoogle Scholar
  46. Lindee, M. S. 2005. Moments of Truth in Genetics and Medicine. Baltimore: Johns Hopkins University.Google Scholar
  47. Lipphardt, V. 2012. “Isolates and Crosses in Human Population Genetics; or, a Contextualization of German Race Science.” Current Anthropology 53(Supplement 5): S69–S82.CrossRefGoogle Scholar
  48. M’Charek, A. 2005. The Human Genome Diversity Project: An Ethnography of Scientific Practice. Cambridge: Cambridge University Press.CrossRefGoogle Scholar
  49. Martin, A. 2004. “Can’t Any Body Count? Counting as an Epistemic Theme in the History of Human Chromosomes.” Social Studies of Science 34: 923–948.CrossRefGoogle Scholar
  50. Mazumdar, P. M. 1992. Eugenics, Human Genetics and Human Failings: The Eugenics Society, Its Sources and Its Critics in Britain. London and New York: Routledge.Google Scholar
  51. McElheny, V. K. 2010. Drawing the Map of Life: Inside the Human Genome Project. New York: Basic Books.Google Scholar
  52. McGovern, M. 2014. “The London/Baltimore Link has been Severed”: The Economies of Human Gene Mapping and Mainframe Computing at the Moore Clinic, 1955–1973. MPhil dissertation. Cambridge: University of Cambridge.Google Scholar
  53. McKusick, V. A. 1966. “Computers in Research in Human Genetics.” Journal of Chronic Diseases 19: 427–441.CrossRefGoogle Scholar
  54. McKusick, V. A. 1982. “The Human Genome Through the Eyes of a Clinical Geneticist.” Human Gene Mapping 6: Oslo Conference (1981), Sixth International Workshop on Human Gene Mapping. Cytogenetics and Cell Genetics 32: 7–23.CrossRefGoogle Scholar
  55. McKusick, V. and Ruddle, F. H. 1987. “Editorial: A New Discipline, a New Name, a New Journal.” Genomics 1: 1–2.CrossRefGoogle Scholar
  56. Miller, O., Allderdice, D., Miller, W. Breg, and Migeon, B. 1971. “Human Thymidine Kinase Gene Locus: Assignment to Chromosome 17 in a Hybrid of Man and Mouse Cells.” Science 173: 244–245.CrossRefGoogle Scholar
  57. National Research Council (US) Committee on Mapping and Sequencing the Human Genome. 1988. Mapping and Sequencing the Human Genome. Washington, DC: National Academies Press.Google Scholar
  58. New Haven Conference. 1973. “First International Workshop on Human Gene Mapping. 1974.” Cytogenetics and Cell Genetics 13: 1–216.Google Scholar
  59. Nowell, P. and Hungerford, D. 1960. “Chromosome Studies on Normal and Leukemic Human Leukocytes.” Journal of the National Cancer Institute 25: 85–93.Google Scholar
  60. Polani, P. E. 1997. “Human and Clinical Cytogenetics: Origins, Evolution and Impact.” European Journal of Human Genetics 5: 117–128.CrossRefGoogle Scholar
  61. Radin, J. 2013. “Latent Life: Concepts and Practices of Tissue Preservation in the International Biological Program.” Social Studies of Science 43: 483–508.CrossRefGoogle Scholar
  62. Radin, J. 2014. “Unfolding Epidemiological Stories: How the WHO Made Frozen Blood a Flexible Resource for the Future.” Studies in History and Philosophy of the Biological and Biomedical Sciences 47A: 62–73.CrossRefGoogle Scholar
  63. Radin, J. 2017. Life on Ice: A History of New Uses for Cold Blood. Chicago: University of Chicago Press.CrossRefGoogle Scholar
  64. Radin, J. and Kowal, E. 2015. “Indigenous Blood and Ethical Regimes in the United States and Australia Since the 1960s.” American Ethnologist 42(4): 749–765.CrossRefGoogle Scholar
  65. Rapp, R. 1999. Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America. New York; London: Routledge.Google Scholar
  66. Ratcliffe, S. G. 1986. Introduction. Birth Defects: Original Article Series 22(3): xii–xv.Google Scholar
  67. Reardon, J. 2004. Race to the Finish: Identity and Governance in the Age of Genomics. Princeton: Princeton University Press.Google Scholar
  68. Richardson, S. S. 2013. Sex Itself: The Search for Male and Female in the Human Genome. Chicago: University of Chicago Press.CrossRefGoogle Scholar
  69. Ruddle, F. H. and Kidd, K. K. 1989. “The Human Gene Mapping Workshops in transition.” Human gene mapping 10: New Haven Conference (1989), Update to the Ninth International Workshop on Human Gene Mapping. Cytogenetics and Cell Genetics 51: 1–2.CrossRefGoogle Scholar
  70. Sachse, C. 2011. “Ein ‘als Neugründung zu deutender Beschluss’.: Vom Kaiser-Wilhelm Institut für Anthropologie, menschliche Erblehre und Eugenik zum Max-Planck-Institut für molekulare Genetik.” Medizinhistorisches Journal 46 (2011): 24–50.Google Scholar
  71. Santesmases, M. Jesús. 2013. “Cereals, Chromosomes and Colchicine: Crop Varieties at the Estación Experimental Aula Dei and Human Cytogenetics, 1948–1958.” B. Gausemeier, S. Müller-Wille, and E. Ramsden (eds.), Human Heredity in the Twentieth Century. London: Pickering and Chatto, pp. 127–140.Google Scholar
  72. Schwartz Cowan, R. 2008. Heredity and Hope: The Case for Genetic Screening. Cambridge, MA: Harvard University Press.CrossRefGoogle Scholar
  73. Shaw, J. 2016. “Documenting Genomics: Applying Archival Theory to Preserving the Records of the Human Genome Project.” Studies in History and Philosophy of Biological and Biomedical Sciences 55: 61–69.CrossRefGoogle Scholar
  74. Sperling, K. 2014. “50 Jahre Max-Planck-Institut für molekulare Genetik- Die Wende zur Humangenetik.” M. Vingron (ed.), Gene und Menschen: 50 Jahre Forschung am Max-Planck-Institut für molekulare Genetik. Berlin: Max-Planck-Institut für molekulare Genetik, pp. 76–87.Google Scholar
  75. Stern, A. M. 2012. Telling Genes: The Story of Genetic Counseling in America. Baltimore: Johns Hopkins University Press.Google Scholar
  76. Sulston, J. and Ferry, G. 2002. The Common Thread: A Story of Science, Politics, Ethics and the Human Genome Project. London: Bantam Press.Google Scholar
  77. The Hastings Center. 1980. Special Supplement: The XYY Controversy: Researching Violence and Genetics. The Hastings Center Report 10(4), 4 August, Special Supplement: The XYY Controversy: Researching Violence and Genetics. The Hastings Center Report - Special Supplement.Google Scholar
  78. Tjio, J. H. and Levan, A. 1956. “The Chromosome Number of Man.” Hereditas 42: 1–6.CrossRefGoogle Scholar
  79. Trautner, T. A. 2014. “Ich hätte mir gar nichts anderes vorstellen können.” M. Vingron (ed.), Gene und Menschen: 50 Jahre Forschung am Max-Planck-Institut für molekulare Genetik. Berlin: Max-Planck-Institut für molekulare Genetik, pp. 62–71.Google Scholar
  80. Turrini, M. 2014. “The Controversial Molecular Turn in Prenatal Diagnosis: CGH-Array Clinical Approaches and Biomedical Platforms.” Tecnoscienza - Italian Journal of Science & Technology Studies 5: 115–139.Google Scholar
  81. Ventura Santos, R. 2002. “Indigenous People, Postcolonial Contexts and Genomic Research in the Late Twentieth Century: A View from Amozonia (1960–2000).” Critique of Anthropology 22: 81–104.CrossRefGoogle Scholar

Copyright information

© The Author(s) 2017
corrected publication 2019

This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

Authors and Affiliations

  1. 1.Department of History and Institute for Society and GeneticsUniversity of California Los AngelesLos AngelesUSA

Personalised recommendations