Science 2003-05-02

Human chromosome 7: DNA sequence and biology.

Stephen W Scherer, Joseph Cheung, Jeffrey R MacDonald, Lucy R Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K Hudek, Martin Li, May Haddad, Gavin E Duggan, Bridget A Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H Zackai, Theresa A Grebe, Sarah R Cox, Susan J Kirkpatrick, Nazneen Rahman, Jan M Friedman, Henry H Q Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G Shaffer, Barbara Pober, Cynthia C Morton, James F Gusella, Gail A P Bruns, Bruce R Korf, Bradley J Quade, Azra H Ligon, Heather Ferguson, Anne W Higgins, Natalia T Leach, Steven R Herrick, Emmanuelle Lemyre, Chantal G Farra, Hyung-Goo Kim, Anne M Summers, Karen W Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J T Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D Wilson, Ben F Koop, Sabrina Tosi, Gudrun E Moore, Andrew P Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M Kroisel, Erwin Petek, David G Oscier, Sarah J Mould, Hartmut Döhner, Konstanze Döhner, Johanna M Rommens, John B Vincent, J Craig Venter, Peter W Li, Richard J Mural, Mark D Adams, Lap-Chee Tsui

Index: Science 300(5620) , 767-72, (2003)

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Abstract

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.