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Science 23 October 1998:
Vol. 282. no. 5389, pp. 744 - 746
DOI: 10.1126/science.282.5389.744
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Reports

A Physical Map of 30,000 Human Genes

P. Deloukas, * G. D. Schuler, G. Gyapay, E. M. Beasley, C. Soderlund, P. Rodriguez-Tomé, L. Hui, T. C. Matise, K. B. McKusick, J. S. Beckmann, S. Bentolila, M.-T. Bihoreau, B. B. Birren, J. Browne, A. Butler, A. B. Castle, N. Chiannilkulchai, C. Clee, P. J. R. Day, A. Dehejia, T. Dibling, N. Drouot, S. Duprat, C. Fizames, S. Fox, S. Gelling, L. Green, P. Harrison, R. Hocking, E. Holloway, S. Hunt, S. Keil, P. Lijnzaad, C. Louis-Dit-Sully, J. Ma, A. Mendis, J. Miller, J. Morissette, D. Muselet, H. C. Nusbaum, A. Peck, S. Rozen, D. Simon, D. K. Slonim, R. Staples, L. D. Stein, E. A. Stewart, M. A. Suchard, T. Thangarajah, N. Vega-Czarny, C. Webber, X. Wu, J. Hudson, C. Auffray, N. Nomura, J. M. Sikela, M. H. Polymeropoulos, M. R. James, E. S. Lander, T. J. Hudson, R. M. Myers, D. R. Cox, J. Weissenbach, M. S. Boguski, D. R. Bentley

A map of 30,181 human gene-based markers was assembled and integrated with the current genetic map by radiation hybrid mapping. The new gene map contains nearly twice as many genes as the previous release, includes most genes that encode proteins of known function, and is twofold to threefold more accurate than the previous version. A redesigned, more informative and functional World Wide Web site (www.ncbi.nlm.nih.gov/genemap) provides the mapping information and associated data and annotations. This resource constitutes an important infrastructure and tool for the study of complex genetic traits, the positional cloning of disease genes, the cross-referencing of mammalian genomes, and validated human transcribed sequences for large-scale studies of gene expression.

P. Deloukas, C. Soderlund, A. Butler, C. Clee, T. Dibling, S. Gelling, L. Green, P. Harrison, R. Hocking, E. Holloway, S. Hunt, A. Mendis, A. Peck, D. Simon, R. Staples, D. R. Bentley, Sanger Centre, Hinxton Hall, Hinxton, Cambridge CB10 1SA UK. G. D. Schuler and M. S. Boguski, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA. G. Gyapay, S. Bentolila, N. Chiannilkulchai, N. Drouot, S. Duprat, C. Fizames, D. Muselet, N. Vega-Czarny, J. Weissenbach, Généthon, CNRS URA 1922, 1 rue de l'Internationale, 91000 Evry, France, and Genoscope Centre National de Sequencage, 2 rue Gaston Cremieux, 91000 Evry, France. E. M. Beasley, K. B. McKusick, E. A. Stewart, R. M. Myers, D. R. Cox, Department of Genetics, Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA 94305, USA. P. Rodriguez-Tomé and P. Lijnzaad, European Molecular Biology Laboratory Outstation, Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK. L. Hui, B. B. Birren, A. B. Castle, J. Ma, H. C. Nusbaum, S. Rozen, D. K. Slonim, X. Wu, Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology Center for Genome Research, 9 Cambridge Center, Cambridge, MA 02142 USA. T. C. Matise, Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA. J. S. Beckmann, Généthon, CNRS URA 1922, 1 rue de l'Internationale, 91000 Evry, France. M.-T. Bihoreau, J. Browne, P. J. R. Day, S. Fox, S. Keil, C. Louis-Dit-Sully, J. Miller, T. Thangarajah, C. Webber, M. R. James, Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Windmill Road, Oxford OX3 7BN, UK. A. Dehejia and M. H. Polymeropoulos, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892 USA. J. Morissette, Centre de Recherche du Centre Hospitalier de l'Université Laval, 2705 Boulevard Laurier, Ste-Foy, Quebec G1V 4G2, Canada. L. D. Stein, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA. M. A. Suchard, Department of Biomathematics, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095, USA. J. Hudson, Research Genetics, 2130 Memorial Parkway S.W., Huntsville, AL 35801, USA. C. Auffray, Genexpress, CNRS UPR 420, 7-19 rue Guy Moquet-Batiment G, 94801 Villejuif, France. N. Nomura, Kazusa DNA Research Institute, 1532-3 Yana, Kisarazu, Chiba 292, Japan. J. M. Sikela, Department of Pharmacology and Molecular Biology Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Denver, CO 80262, USA. E. S. Lander, Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology Center for Genome Research, 9 Cambridge Center, Cambridge, MA 02142, USA, and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. T. J. Hudson, Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology Center for Genome Research, 9 Cambridge Center, Cambridge, MA 02142, USA, and Montreal General Hospital Research Institute, McGill University, Montreal, Canada.
*   To whom correspondence should be addressed.

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A High-throughput AFLP-based Method for Constructing Integrated Genetic and Physical Maps: Progress Toward a Sorghum Genome Map.
P. E. Klein, R. R. Klein, S. W. Cartinhour, P. E. Ulanch, J. Dong, J. A. Obert, D. T. Morishige, S. D. Schlueter, K. L. Childs, M. Ale, et al. (2000)
Genome Res. 10, 789-807
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A Human Genomic Library Enriched in Transcriptionally Active Sequences (aDNA Library).
A. L. Pelling, A. W. Thorne, and C. Crane-Robinson (2000)
Genome Res. 10, 874-886
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A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping.
W. J. Murphy, S. Sun, Z.-q. Chen, N. Yuhki, D. Hirschmann, M. Menotti-Raymond, and S. J. O'Brien (2000)
Genome Res. 10, 691-702
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Genetically defined risk of salt sensitivity in an intercross of Brown Norway and Dahl S rats.
A. W. COWLEY JR., M. STOLL, A. S. GREENE, M. L. KALDUNSKI, R. J. ROMAN, P. J. TONELLATO, N. J. SCHORK, P. DUMAS, and H. J. JACOB (2000)
Physiol Genomics 2, 107-115
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New Target Regions for Human Hypertension via Comparative Genomics.
M. Stoll, A. E. Kwitek-Black, A. W. Cowley Jr., E. L. Harris, S. B. Harrap, J. E. Krieger, M. P. Printz, A. P. Provoost, J. Sassard, and H. J. Jacob (2000)
Genome Res. 10, 473-482
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Linkage of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) to Chromosome 17q25.
T. Yamauchi, M. Tada, K. Houkin, T. Tanaka, Y. Nakamura, S. Kuroda, H. Abe, T. Inoue, K. Ikezaki, T. Matsushima, et al. (2000)
Stroke 31, 930-935
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Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31.
S. K. Horrigan, Z. H. Arbieva, H. Y. Xie, J. Kravarusic, N. C. Fulton, H. Naik, T. T. Le, and C. A. Westbrook (2000)
Blood 95, 2372-2377
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A Fast and Scalable Radiation Hybrid Map Construction and Integration Strategy.
R. Agarwala, D. L. Applegate, D. Maglott, G. D. Schuler, and A. A. Schäffer (2000)
Genome Res. 10, 350-364
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Layered Expression Scanning: Rapid Molecular Profiling of Tumor Samples.
C. R. Englert, G. V. Baibakov, and M. R. Emmert-Buck (2000)
Cancer Res. 60, 1526-1530
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Fine Mapping of PPH1, a Gene for Familial Primary Pulmonary Hypertension, to a 3-cM Region on Chromosome 2q33.
Z. DENG, F. HAGHIGHI, L. HELLEBY, K. VANTERPOOL, E. M. HORN, R. J. BARST, S. E. HODGE, J. H. MORSE, and J. A. KNOWLES (2000)
Am. J. Respir. Crit. Care Med. 161, 1055-1059
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Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma.
B. E. Baysal, R. E. Ferrell, J. E. Willett-Brozick, E. C. Lawrence, D. Myssiorek, A. Bosch, A. v. d. Mey, P. E. Taschner, W. S. Rubinstein, E. N. Myers, et al. (2000)
Science 287, 848-851
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Identification of a Human Brain-specific Isoform of Mammalian STE20-like Kinase 3 That Is Regulated by cAMP-dependent Protein Kinase.
T.-H. Zhou, K. Ling, J. Guo, H. Zhou, Y.-L. Wu, Q. Jing, L. Ma, and G. Pei (2000)
J. Biol. Chem. 275, 2513-2519
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Endo180, an endocytic recycling glycoprotein related to the macrophage mannose receptor is expressed on fibroblasts, endothelial cells and macrophages and functions as a lectin receptor.
H Sheikh, H Yarwood, A Ashworth, and C. Isacke (2000)
J. Cell Sci. 113, 1021-1032
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Database resources of the National Center for Biotechnology Information.
D. L. Wheeler, C. Chappey, A. E. Lash, D. D. Leipe, T. L. Madden, G. D. Schuler, T. A. Tatusova, and B. A. Rapp (2000)
Nucleic Acids Res. 28, 10-14
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Expression Profile and Chromosomal Location of cDNA Clones, Identified from an Enriched Adult Human Retina Library.
S. Sinha, A. Sharma, N. Agarwal, A. Swaroop, and T. L. Yang–Feng (2000)
Invest. Ophthalmol. Vis. Sci. 41, 24-28
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XREFdb: cross-referencing the genetics and genes of mammals and model organisms.
R. Ploger, J. Zhang, D. Bassett, R. Reeves, P. Hieter, M. Boguski, and F. Spencer (2000)
Nucleic Acids Res. 28, 120-122
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The TIGR Gene Indices: reconstruction and representation of expressed gene sequences.
J. Quackenbush, F. Liang, I. Holt, G. Pertea, and J. Upton (2000)
Nucleic Acids Res. 28, 141-145
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A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32-q41.
B. C. Schutte, B. C. Bjork, K. B. Coppage, M. I. Malik, S. G. Gregory, D. J. Scott, L. M. Brentzell, Y. Watanabe, M. J. Dixon, and J. C. Murray (2000)
Genome Res. 10, 81-94
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Genetic epidemiology of single-nucleotide polymorphisms.
A. Collins, C. Lonjou, and N. E. Morton (1999)
PNAS 96, 15173-15177
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From the Cover: A first-generation X-inactivation profile of the human X chromosome.
L. Carrel, A. A. Cottle, K. C. Goglin, and H. F. Willard (1999)
PNAS 96, 14440-14444
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Identification of Three Novel Ca2+ Channel gamma Subunit Genes Reveals Molecular Diversification by Tandem and Chromosome Duplication.
D. L. Burgess, C. F. Davis, L. A. Gefrides, and J. L. Noebels (1999)
Genome Res. 9, 1204-1213
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Extensive Conservation of Sex Chromosome Organization Between Cat and Human Revealed by Parallel Radiation Hybrid Mapping.
W. J. Murphy, S. Sun, Z.-Q. Chen, J. Pecon-Slattery, and S. J. O'Brien (1999)
Genome Res. 9, 1223-1230
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An Integrated Physical Map for the Short Arm of Human Chromosome 5.
E. T. Peterson, R. Sutherland, D. L. Robinson, L. Chasteen, M. Gersh, J. Overhauser, L. L. Deaven, R. K. Moyzis, and D. L. Grady (1999)
Genome Res. 9, 1250-1267
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Expression Profiling by iAFLP: A PCR-Based Method for Genome-Wide Gene Expression Profiling.
S. Kawamoto, T. Ohnishi, H. Kita, O. Chisaka, and K. Okubo (1999)
Genome Res. 9, 1305-1312
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The Genexpress IMAGE Knowledge Base of the Human Muscle Transcriptome: A Resource of Structural, Functional, and Positional Candidate Genes for Muscle Physiology and Pathologies.
G. Piétu, E. Eveno, B. Soury-Segurens, N.-A. Fayein, R. Mariage-Samson, C. Matingou, E. Leroy, C. Dechesne, S. Krieger, W. Ansorge, et al. (1999)
Genome Res. 9, 1313-1320
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The human genome project: a false dawn?.
R L Zimmern (1999)
BMJ 319, 1282
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A 7.5 Mb Sequence-Ready PAC Contig and Gene Expression Map of Human Chromosome 11p13-p14.1.
B. Gawin, A. Niederführ, N. Schumacher, H. Hummerich, P. F.R. Little, and M. Gessler (1999)
Genome Res. 9, 1074-1086
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The Mammalian Gene Collection.
R. L. Strausberg, E. A. Feingold, R. D. Klausner, and F. S. Collins (1999)
Science 286, 455-457
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The Promise of Comparative Genomics in Mammals.
S. J. O'Brien, M. Menotti-Raymond, W. J. Murphy, W. G. Nash, J. Wienberg, R. Stanyon, N. G. Copeland, N. A. Jenkins, J. E. Womack, and J. A. Marshall Graves (1999)
Science 286, 458-481
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A Comprehensive View of Human Chromosome 1.
P. S. White, E. P. Sulman, C. J. Porter, and T. C. Matise (1999)
Genome Res. 9, 978-988
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A Resource of Mapped Human Bacterial Artificial Chromosome Clones.
V. G. Cheung, H. L. Dalrymple, S. Narasimhan, J. Watts, G. Schuler, A. K. Raap, M. Morley, and A. Bruzel (1999)
Genome Res. 9, 989-993
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Human Genome Anatomy: BACs Integrating the Genetic and Cytogenetic Maps for Bridging Genome and Biomedicine.
J. R. Korenberg, X.-N. Chen, Z. Sun, Z.-Y. Shi, S. Ma, E. Vataru, D. Yimlamai, J. S. Weissenbach, H. Shizuya, M. I. Simon, et al. (1999)
Genome Res. 9, 994-1001
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Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.
L. Villard, S. Briault, A.-M. Lossi, C. Paringaux, J. Belougne, L. Colleaux, D R Pincus, E Woollatt, J. Lespinasse, A. Munnich, et al. (1999)
J. Med. Genet. 36, 754-758
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