Abstract
SETS of ordered overlapping cloned genomic DNA fragments that span each of the human chromosomes are urgently needed for identification of human disease genes. Such a physical map also provides unique material to study the structure and function of the genome. We have therefore exhaustively analysed the CEPH yeast artificial chromosome (YAC) library, which contains 33,000 clones, whose insert size was individually determined. These YACs have an average length of 0.9 megabases and cover the equivalent of 10 haploid genomes. Several mapping techniques were combined to provide multiple sources of structural information for most of these clones. Finally, the library was screened with more than 2,000 genetic markers quasiuniformly distributed over 90% of the genome. These results should allow the scientific community to construct detailed maps of all human chromosomes. Moreover, we propose a data analysis strategy that produces a first-generation integrated map covering most of the human genome.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Kohara, Y., Akyama, K. & Isono, K. Cell 50, 495–508 (1987).
Olson, M. et al. Proc. natn. Acad. Sci. Sci. U.S.A. 83, 7826–7830 (1986).
Coulson, A., Sulston, J., Brenner, S. & Kam, J. Proc. natn. Acad. Sci. U.S.A. 83, 7821–7825 (1986).
Bellanné-Chantelot C. et al. Cell 70, 1059–1068 (1992).
Barillot, E., Dausset, J. & Cohen, D. Proc. natn. Acad. Sci. U.S.A. 88, 3917–3921 (1991).
Foote, S., Vollrath, D., Hilton, A. & Page, D. Science 258, 60–66 (1992).
Chumakov, I. et al. Nature 359, 380–386 (1992).
Olson, M. V., Hood, L., Cantor, C. R. & Botstein, D. Science 245, 1434–1435 (1989).
Weissenbach J. et al. Nature 359, 794–801 (1992).
Nelson, D. L. et al. Proc. natn. Acad. Sci. U.S.A. 86, 6686–6690 (1989).
de Jong, P. J. et al. Cytogen. Cell Genet. 51, 985 (1989).
Chumakov, I. M. et al. Nature Genet. 1, 222–225 (1992).
Mullivor, R. A., Greene, A. E., Drwinga, H. L., Toji, L. H. & Kim, C. Am. J. hum. Genet. Suppl. 49, 370 (1991).
Ried, T., Baldini, A., Rand, T. C. & Ward, D. C. Proc. natn. Acad. Sci. U.S.A. 89, 1388–1392 (1992).
van Ommen, G. J. Genome Priority Rep. 1885–1888 (HUGO Bulletin, 1993).
Burke, D. T., Carle, G. F. & Olson, M. V. Science 236, 806–812 (1987).
Green, E. D., Riethman, H. C., Dutchik, J. E. & Olson, M. V. Genomics 11, 658–659 (1991).
Vollrath, D. et al. Science 258, 52–59 (1992).
Sulston, J. et al. Nature Genet. 356, 37–41 (1992).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cohen, D., Chumakov, I. & Weissenbach, J. A first-generation physical map of the human genome. Nature 366, 698–701 (1993). https://doi.org/10.1038/366698a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/366698a0
This article is cited by
-
The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project
Journal of the History of Biology (2018)
-
Non-profit Drug Research and Development at a Crossroads
Pharmaceutical Research (2018)
-
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
Journal of Human Genetics (2012)
-
Complex aetiology of an apparently Mendelian form of Mental Retardation
BMC Medical Genetics (2008)
-
Assaying chromosomal inversions by single-molecule haplotyping
Nature Methods (2006)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.
