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Originally published in Science Express on 10 April 2003
Science 2 May 2003:
Vol. 300. no. 5620, pp. 767 - 772
DOI: 10.1126/science.1083423
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Research Articles

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer,1,5* Joseph Cheung,1 Jeffrey R. MacDonald,1 Lucy R. Osborne,6 Kazuhiko Nakabayashi,1 Jo-Anne Herbrick,1 Andrew R. Carson,1 Layla Parker-Katiraee,1,5 Jennifer Skaug,1 Razi Khaja,1 Junjun Zhang,1 Alexander K. Hudek,1 Martin Li,1 May Haddad,1 Gavin E. Duggan,1 Bridget A. Fernandez,7 Emiko Kanematsu,1 Simone Gentles,1 Constantine C. Christopoulos,1 Sanaa Choufani,1 Dorota Kwasnicka,1 Xiangqun H. Zheng,8 Zhongwu Lai,8 Deborah Nusskern,8 Qing Zhang,8 Zhiping Gu,8 Fu Lu,8 Susan Zeesman,9 Malgorzata J. Nowaczyk,9 Ikuko Teshima,1,2,11 David Chitayat,2,11 Cheryl Shuman,1,2,11 Rosanna Weksberg,1,2,11 Elaine H. Zackai,12 Theresa A. Grebe,13 Sarah R. Cox,13 Susan J. Kirkpatrick,14 Nazneen Rahman,15 Jan M. Friedman,16 Henry H. Q. Heng,17 Pier Giuseppe Pelicci,18,19 Francesco Lo-Coco,20 Elena Belloni,18,19 Lisa G. Shaffer,21 Barbara Pober,22 Cynthia C. Morton,23,24,26 James F. Gusella,27 Gail A. P. Bruns,28 Bruce R. Korf,25,26 Bradley J. Quade,24 Azra H. Ligon,24 Heather Ferguson,23 Anne W. Higgins,23 Natalia T. Leach,24 Steven R. Herrick,24 Emmanuelle Lemyre,23 Chantal G. Farra,23 Hyung-Goo Kim,27 Anne M. Summers,29 Karen W. Gripp,30 Wendy Roberts,3 Peter Szatmari,10 Elizabeth J. T. Winsor,31 Karl-Heinz Grzeschik,32 Ahmed Teebi,2,11 Berge A. Minassian,1,4 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,1,5 John B. Vincent,43 J. Craig Venter,8 Peter W. Li,8 Richard J. Mural,8 Mark D. Adams,8 Lap-Chee Tsui1,5{dagger}

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.

1 Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
3 The Child Development Centre, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
4 Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
5 Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada, M5S 1A8.
6 Department of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 1A8.
7 Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada, A1B 3V6.
8 Celera Genomics, Rockville, MD 20850, USA.
9 Hamilton Health Sciences Centre and McMaster University, Hamilton, Ontario, Canada, L8N 3Z5.
10 Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada, L8N 3Z5.
11 Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.
12 Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104–4301, USA.
13 University of Phoenix Genetics Program, Phoenix, AZ 85016, USA.
14 Department of Medical Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA.
15 Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
16 Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada, V6H 3N1.
17 Wayne State University School of Medicine, Detroit, MI 48202, USA.
18 European Institute of Oncology, Department of Experimental Oncology, 20141 Milan, Italy.
19 Firc Institute for Molecular Oncology, Cancer Genetics Unit, 20134 Milan, Italy.
20 Universita di Roma Tor Vergata, Dipartimento di Biopatologia e Diagnostica per Immagini, 00133 Rome, Italy.
21 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
22 Department of Genetics, Yale University School of Medicine, New Haven, CT 06520–8005, USA.
23 Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
24 Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
25 Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
26 Harvard Partners Center for Genetics and Genomics, Harvard Medical School, Boston, MA 02115, USA.
27 Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA.
28 Department of Pediatrics, The Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
29 Department of Genetics, North York General Hospital, Toronto, Ontario, Canada, M2K 1E1.
30 Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE 19899, USA.
31 Prenatal Diagnosis Program and Department of Laboratory Medicine and Pathobiology, University Health Network, The University of Toronto, Toronto, Ontario, Canada, M5G 1X5.
32 Medizinisches Zentrum für Humangenetik der Universität Marburg, D35037 Marburg, Germany.
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.



{dagger} 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

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