Abstract
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.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
Change history
06 September 2019
These articles are published with open access at Springerlink.com.
06 September 2019
These articles are published with open access at Springerlink.com.
References
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 6–12, 1961, volume II. Rome: Istituto G. Mendel, pp. 1164–1166.
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.
Beckwith, J. and King, J. 1974. “The XYY Syndrome: A Dangerous Myth.” New Scientist 64: 474–476.
Bell, J. and Haldane, J. B. S. 1937. “Blindness and Haemophilia in Man.” Proceedings of the Royal Society of London B 123: 119–150.
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.
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.
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.
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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1706414/.
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.
Chandra, H. S. and Hungerford, D. A. 1966. “Chromosome Studies of Todas of Southern India.” Human Biology 38: 194–198.
Cook-Deegan, R. 1994. The Gene Wars: Science, Politics, and the Human Genome. New York and London: Norton & Co.
Court Brown, W. M. and Doll, R. 1956. “Appendix B: Leukaemia and Aplastic Anaemia in Patients Treated with X-rays for Ankylosing Spondylitis.” InThe Hazards to Man of Nuclear and Allied Radiations, Medical Research Council. London: Her Majesty’s Stationery Office. Cmd 9780, pp. 87–89.
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.
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.
Curry, H. A. 2016. Evolution Made to Order: Plant Breeding and Technological Innovation in Twentieth-Century America. Chicago: University of Chicago Press.
de Chadarevian, S. Forthcoming. Heredity Under the Microscope.
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.
de Chadarevian, S. 2015a. “Chromosome Photography and the Recount of Human Chromosomes.” Historical Studies in Natural Sciences 45: 115–146.
de Chadarevian, S. 2015b. “Human Population Studies and the World Health Organization.” Dynamis 35: 359–388.
Editorial. 1959. “The Chromosomes of Man.” Lancet 273(7075): 715–716.
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.
Ford, C. and Hamerton, J. 1956. “The Chromosomes of Man.” Nature 178: 1010–1023.
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.
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.
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.
Haldane, J. B. S. 1936. “A Provisional Map of a Human Chromosome.”Nature 137: 398–400.
Haldane, J. B. S. 1948. “The Formal Genetics of Man.” Proceeding of the Royal Society of London B 153: 147–170.
Hamerton, J. L. 1975. “Human Cytogenetic Registries.” Humangenetik 29: 177–181.
Harman, O. S. 2004. The Man Who Invented the Chromosome: A Life of Cyril Darlington. London: Harvard University Press.
Harper, P. S. 2006. First Years of Human Chromosomes: The Beginning of Human Cytogenetics. Bloxham: Scion Publishing.
Harris, H. 1995. The Cells of the Body: A History of Somatic Cell Genetics. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
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.
Hogan, A. J. 2016. Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics. Baltimore, MD: Johns Hopkins University Press.
Hsu, T. 1979. Human and Mammalian Cytogenetics: An Historical Perspective. New York: Springer.
Hungerford, D. A. 1978. “Some Early Studies of Human Chromosomes, 1879–1955.” Cytogenetics and Cell Genetics 20: 1–11.
Hungerford, D. A. et al. 1969. “Chromosome Studies of the Ainu Population of Hokkaido.” Cytogenetics 8: 74–79.
Hungerford, D. A., Giles, E. and Creech, C. G. 1965. “Chromosome Studies of Eastern New Guinea Natives.” Current Anthropology 6: 109–110.
Jensen, A. 1969. “How Much Can We Boost IQ and School Achievement?”Harvard Educational Review 39: 1–123.
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.
Keller, E. 2000. The Century of the Gene. Cambridge, MA: Harvard University Press.
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.
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.
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.
Kowal, E. and Radin, J. 2015. “Indigenous Biospecimen Collections and the Cryopolitics of Frozen Life.” Journal of Sociology 51(1): 63–80.
Lima-de-Faria, A. 2003. One Hundred Years of Chromosome Research and What Remains to be Learned. Dordrecht and Boston: Kluwer Academic Publishers.
Lindee, M. S. 2005. Moments of Truth in Genetics and Medicine. Baltimore: Johns Hopkins University.
Lipphardt, V. 2012. “Isolates and Crosses in Human Population Genetics; or, a Contextualization of German Race Science.” Current Anthropology 53(Supplement 5): S69–S82.
M’Charek, A. 2005. The Human Genome Diversity Project: An Ethnography of Scientific Practice. Cambridge: Cambridge University Press.
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.
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.
McElheny, V. K. 2010. Drawing the Map of Life: Inside the Human Genome Project. New York: Basic Books.
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.
McKusick, V. A. 1966. “Computers in Research in Human Genetics.”Journal of Chronic Diseases 19: 427–441.
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.
McKusick, V. and Ruddle, F. H. 1987. “Editorial: A New Discipline, a New Name, a New Journal.” Genomics 1: 1–2.
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.
National Research Council (US) Committee on Mapping and Sequencing the Human Genome. 1988. Mapping and Sequencing the Human Genome. Washington, DC: National Academies Press.
New Haven Conference. 1973. “First International Workshop on Human Gene Mapping. 1974.” Cytogenetics and Cell Genetics 13: 1–216.
Nowell, P. and Hungerford, D. 1960. “Chromosome Studies on Normal and Leukemic Human Leukocytes.” Journal of the National Cancer Institute 25: 85–93.
Polani, P. E. 1997. “Human and Clinical Cytogenetics: Origins, Evolution and Impact.” European Journal of Human Genetics 5: 117–128.
Radin, J. 2013. “Latent Life: Concepts and Practices of Tissue Preservation in the International Biological Program.” Social Studies of Science 43: 483–508.
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.
Radin, J. 2017. Life on Ice: A History of New Uses for Cold Blood. Chicago: University of Chicago Press.
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.
Rapp, R. 1999. Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America. New York; London: Routledge.
Ratcliffe, S. G. 1986. Introduction. Birth Defects: Original Article Series 22(3): xii–xv.
Reardon, J. 2004. Race to the Finish: Identity and Governance in the Age of Genomics. Princeton: Princeton University Press.
Richardson, S. S. 2013. Sex Itself: The Search for Male and Female in the Human Genome. Chicago: University of Chicago Press.
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.
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.
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.
Schwartz Cowan, R. 2008. Heredity and Hope: The Case for Genetic Screening. Cambridge, MA: Harvard University Press.
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.
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.
Stern, A. M. 2012. Telling Genes: The Story of Genetic Counseling in America. Baltimore: Johns Hopkins University Press.
Sulston, J. and Ferry, G. 2002. The Common Thread: A Story of Science, Politics, Ethics and the Human Genome Project. London: Bantam Press.
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.
Tjio, J. H. and Levan, A. 1956. “The Chromosome Number of Man.”Hereditas 42: 1–6.
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.
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.
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.
Acknowledgements
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).
Author information
Authors and Affiliations
Corresponding author
Additional information
The original version of this article was revised due to a retrospective Open Access order.
Rights and permissions
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), 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.
About this article
Cite this article
de Chadarevian, S. Whose Turn? Chromosome Research and the Study of the Human Genome. J Hist Biol 51, 631–655 (2018). https://doi.org/10.1007/s10739-017-9486-7
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10739-017-9486-7