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Published Online April 10, 2003
Science DOI: 10.1126/science.1083423

Research Articles

Submitted on February 13, 2003
Accepted on March 25, 2003

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer 1*, Joseph Cheung 2, Jeffrey R. MacDonald 2, Lucy R. Osborne 3, Kazuhiko Nakabayashi 2, Jo-Anne Herbrick 2, Andrew R. Carson 2, Layla Parker-Katiraee 1, Jennifer Skaug 2, Razi Khaja 2, Junjun Zhang 2, Alexander K. Hudek 2, Martin Li 2, May Haddad 2, Gavin E. Duggan 2, Bridget A. Fernandez 4, Emiko Kanematsu 2, Simone Gentles 2, Constantine C. Christopoulos 2, Sanaa Choufani 2, Dorota Kwasnicka 2, Xiangqun H. Zheng 5, Deborah Nusskern 5, Qing Zhang 5, Zhiping Gu 5, Fu Lu 5, Susan Zeesman 6, Ikuko Teshima 7, David Chitayat 8, Cheryl Shuman 7, Rosanna Weksberg 7, Elaine H. Zackai 9, Theresa A. Grebe 10, Sarah R. Cox 10, Susan J. Kirkpatrick 11, Nazneen Rahman 12, Jan M. Friedman 13, Henry H. Q. Heng 14, Pier Giuseppe Pelicci 15, Francesco Lo-coco 16, Elena Belloni 17, Lisa G. Shaffer 18, Barbara Pober 19, Cynthia C. Morton 20, James F. Gusella 21, Gail A. P. Bruns 22, Bruce R. Korf 23, Bradley J. Quade 24, Azra H. Ligon 24, Heather Ferguson 25, Anne W. Higgins 25, Natalia T. Leach 24, Steven R. Herrick 24, Emmanuelle Lemyre 25, Chantal G. Farra 25, Hyung-Goo Kim 21, Anne M. Summers 26, Karen W. Gripp 27, Wendy Roberts 28, Peter Szatmari 29, Elizabeth J. T. Winsor 30, Karl-Heinz Grzeschik 31, Ahmed Teebi 8, Berge A. Minassian 32, Juha Kere 33, Lluis Armengol 34, Miguel Angel Pujana 34, Xavier Estivill 34, Michael D. Wilson 35, Ben F. Koop 35, Sabrina Tosi 36, Gudrun E. Moore 37, Andrew P. Boright 38, Eitan Zlotorynski 39, Batsheva Kerem 39, Peter M. Kroisel 40, Erwin Petek 40, David G. Oscier 41, Sarah J. Mould 41, Hartmut Döhner 42, Konstanze Döhner 42, Johanna M. Rommens 1, John B. Vincent 43, J. Craig Venter 5, Peter W. Li 5, Richard J. Mural 5, Mark D. Adams 5, Lap-Chee Tsui 44

1 Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8; Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada, M5S 1A8.
2 Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
3 Department of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 1A8.
4 Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada, A1B 3V6.
5 Celera Genomics, Rockville, MD 20850, USA.
6 Hamilton Health Sciences Centre and McMaster University, Hamilton, Ontario, Canada, L8N 3Z5.
7 Department of Genetics and Genomic Biology, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8p; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.
8 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.
9 Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4301, USA.
10 University of Phoenix Genetics Program, Phoenix, AZ 85016, USA.
11 Department of Medical Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA.
12 Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
13 Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada, V6H 3N1.
14 Wayne State University School of Medicine, Detroit, MI 48202, USA.
15 European Institute of Oncology, Department of Experimental Oncology, 20141 Milan, Italy; Firc Institute for Molecular Oncology, Cancer Genetics Unit, 20134 Milan, Italy.
16 Universita di Roma Tor Vergata, Dipartimento di Biopatologia e Diagnostica per Immagini, 00133 Rome, Italy.
17 European Institute of Oncology, Department of Experimental Oncology, 20141 Milan, Italy; Firc Institute for Molecular Oncology, Cancer Genetics Unit, 20134 Milan, Italy.
18 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
19 Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
20 Department of Obstetrics, Gynecology and Reproductive Biology, Department of Pathology, Harvard Medical School, Boston, MA 02115, USA; Harvard Partners Center for Genetics and Genomics, Harvard Medical School, Boston, MA 02115, USA.
21 Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA.
22 Department of Pediatrics, The Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
23 Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Harvard Partners Center for Genetics and Genomics, Harvard Medical School, Boston, MA 02115, USA.
24 Department of Pathology, Harvard Medical School, Boston, MA 02115, USA.
25 Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA 02115, USA.
26 Department of Genetics, North York General Hospital, Toronto, Ontario, Canada, M2K 1E1.
27 Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE 19899, USA.
28 The Child Development Centre, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
29 Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada, L8N 3Z5.
30 Prenatal Diagnosis Program and Department of Laboratory Medicine and Pathobiology, University Health Network, The University of Toronto, Toronto, Ontario, Canada, M5G 1X5.
31 Medizinisches Zentrum für Humangenetik der Universität Marburg, D35037 Marburg, Germany.
32 Department of Genetics and Genomic Biology, Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
33 Department of Biosciences, Karolinska Institute, at Novum and Clinical Research Centre, Huddinge University Hospital, S-141 57 Stockholm, Sweden.
34 Program in Genes and Disease, Centre for Genomic Regulation, 08003 Barcelona, Catalonia, Spain.
35 Department of Biology, University of Victoria, Victoria, British Columbia, Canada, V8W 3N5.
36 MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK.
37 Department of Fetal and Maternal Medicine, Institute of Reproductive and Developmental Biology, Imperial College, Faculty of Medicine, Hammersmith Campus, London W12 0NN, UK.
38 Division of Endocrinology, Department of Medicine, University Health Network, University of Toronto, Toronto, Ontario, Canada, M5G 2C4.
39 Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, 91904 Israel.
40 Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, A-8010 Graz, Austria.
41 Department of Haematology, Royal Bournemouth Hospital, Bournemouth, BH7 7DW UK.
42 Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany, 89081.
43 Centre for Addiction and Mental Health, Clarke Institute and Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada, M5T 1R8.
44 Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8; Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada, M5S 1A8; Present Address: The University of Hong Kong, Pofuklam Road, Hong Kong.

* To whom correspondence should be addressed. E-mail: steve{at}genet.sickkids.on.ca.

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures are presented. To generate a higher-order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.


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