Human Genome
Nature 409, 934-941 (15 February 2001) | doi:10.1038/35057157; Received 28 November 2000; Accepted 27 December 2000
A physical map of the human genome
The International Human Genome Mapping ConsortiumJohn D. McPherson1, Marco Marra1,, LaDeana Hillier1, Robert H. Waterston1, Asif Chinwalla1, John Wallis1, Mandeep Sekhon1, Kristine Wylie1, Elaine R. Mardis1, Richard K. Wilson1, Robert Fulton1, Tamara A. Kucaba1, Caryn Wagner-McPherson1 & William B. Barbazuk1 for Washington University School of Medicine, Genome Sequencing Center:, Simon G. Gregory2, Sean J. Humphray2, Lisa French2, Richard S. Evans2, Graeme Bethel2, Adam Whittaker2, Jane L. Holden2, Owen T. McCann2, Andrew Dunham2, Carol Soderlund2,, Carol E. Scott2 & David R. Bentley2 for Wellcome Trust Genome Campus:, Gregory Schuler3, Hsiu-Chuan Chen3 & Wonhee Jang3 for National Center for Biotechnology Information:, Eric D. Green4, Jacquelyn R. Idol4 & Valerie V. Braden Maduro4 for National Human Genome Research Insititute:, Kate T. Montgomery5, Eunice Lee5, Ashley Miller5, Suzanne Emerling5 & Raju Kucherlapati5 for Albert Einstein College of Medicine:, Richard Gibbs6, Steve Scherer6, J. Harley Gorrell6, Erica Sodergren6, Kerstin Clerc-Blankenburg6, Paul Tabor6, Susan Naylor7 & Dawn Garcia7 for Baylor College of Medicine, Human Genome Sequencing Center:, Pieter J. de Jong8,, Joseph J. Catanese8,, Norma Nowak8, & Kazutoyo Osoegawa8, for Roswell Park Cancer Institute:, Shizhen Qin9, Lee Rowen9, Anuradha Madan9, Monica Dors9 & Leroy Hood9 for Multimegabase Sequencing Center:, Barbara Trask10, Cynthia Friedman10 & Hillary Massa10 for Fred Hutchinson Cancer Research Institute:, Vivian G. Cheung11, Ilan R. Kirsch12, Thomas Reid12 & Raluca Yonescu12 for The Children's Hospital of Philadelphia:, Jean Weissenbach13, Thomas Bruls13 & Roland Heilig13 for Genoscope:, Elbert Branscomb14, Anne Olsen14, Norman Doggett14, Jan-Fang Cheng14 & Trevor Hawkins14 for US DOE Joint Genome Institute:, Richard M. Myers15, Jin Shang15, Lucia Ramirez15, Jeremy Schmutz15, Olivia Velasquez15, Kami Dixon15, Nancy E. Stone15 & David R. Cox15 for Stanford Human Genome Center and Department of Genetics:, David Haussler16,17, W. James Kent18, Terrence Furey17, Sanja Rogic17 & Scot Kennedy19 for University of California, Santa Cruz:, Steven Jones20 for British Columbia Cancer Research Centre:, André Rosenthal21, Gaiping Wen21, Markus Schilhabel21, Gernot Gloeckner21, Gerald Nyakatura21,, Reiner Siebert22 & Brigitte Schlegelberger22 for Department of Genome Analysis, Institute of Molecular Biotechnology:, Julie Korenberg23 & Xiao-Ning Chen23 for Departments of Human Genetics and Pediatrics, University of California:, Asao Fujiyama24, Masahira Hattori24, Atsushi Toyoda24, Tetsushi Yada24, Hong-Seok Park24 & Yoshiyuki Sakaki24 for RIKEN Genomic Sciences Center:, Nobuyoshi Shimizu25, Shuichi Asakawa25, Kazuhiko Kawasaki25, Takashi Sasaki25, Ai Shintani25, Atsushi Shimizu25, Kazunori Shibuya25, Jun Kudoh25 & Shinsei Minoshima25 for Department of Molecular Biology, Keio University School of Medicine: & Juliane Ramser26, Peter Seranski26,27, Celine Hoff26,27, Annemarie Poustka26,27, Richard Reinhardt26 & Hans Lehrach26 for Max-Planck-Institute for Molecular Genetics:
aPresent addresses: British Columbia Cancer Research Centre, 600 West 10th Avenue, Room 3427, Vancouver, British ColumbiaV5Z 4E6, Canada (M.M.); Clemson University Genome Institute, 100 Jordan Hall, Clemson University, Clemson, South Carolina29634-5727, USA (C.S.); Children's Hospital Oakland Research Institute, BACPAC Resources, Oakland, California94609, USA and Pfizer Global Research & Development, Alameda Laboratories, Alameda, California94502USA (P.J.d.J., J.J.C., K.O.); MWG-Biotech AG, Ebersberg, Germany (G.N.).
Abstract
The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate assembly of the genome sequence. Here we report the construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions. We also describe the integration of sequence data with the map.
- Washington University School of Medicine, Genome Sequencing Center, Department of Genetics, 4444 Forest Park Boulevard, St. Louis, Missouri 63108, USA
- Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
- National Center for Biotechnology Information, National Institutes of Health, Bethesda, Maryland 20894, USA
- National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
- Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA
- Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA;
- University of Texas, San Antonio, Texas, USA
- Roswell Park Cancer Institute, Buffalo, New York 14263, USA
- Multimegabase Sequencing Center, Institute for Systems Biology, Seattle, Washington 98105, USA
- Division of Human Biology, Fred Hutchinson Cancer Research Institute, Seattle, Washington 98109, USA
- Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;
- Genetics Department, Medicine Branch, National Cancer Institute, Washington DC, USA
- Genoscope, Centre National de Séquencage, 2 Rue Gaston Crémieux, CP 5706, 91057 Evry, France
- US DOE Joint Genome Institute, Walnut Creek, California, USA
- Stanford Human Genome Center and Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
- Howard Hughes Medical Institute, University of California, Santa Cruz, Santa Cruz, California 95064, USA;
- Department of Computer Science, University of California, Santa Cruz, Santa Cruz, California 95064, USA;
- Department of Biology, University of California, Santa Cruz, Santa Cruz, California 95064, USA;
- Department of Mathematics, University of California, Santa Cruz, Santa Cruz, California 95064, USA
- British Columbia Cancer Research Centre, 600 West 10th Avenue, Room 3427, Vancouver, British Columbia V5Z 4E6, Canada
- Dept. of Genome Analysis, Institute of Molecular Biotechnology, Beutenbergstrasse 11, D-07745 JENA, Germany;
- Institute of Human Genetics, University of Kiel, Germany
- Departments of Human Genetics and Pediatrics, University of California, Los Angeles, California, USA
- RIKEN Genomic Sciences Center, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan
- Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo 160-8582, Japan
- Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D-14195, Berlin, Germany;
- Abteilung Molekulare Genomanalyse, Deutsches Krebstorschungszentrum, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
Correspondence to: Correspondence and requests for materials should be addressed to J.D.M. (e-mail: Email: jmcphers@watson.wustl.edu).
