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.
Human chromosome 7: DNA sequence and biology / S. W. Scherer, J. Cheung, J. R. MacDonald, L. R. Osborne, K. Nakabayashi, J. Herbrick, A. R. Carson, L. Parker-Katiraee, J. Skaug, R. Khaja, J. Zhang, A. K. Hudek, M. Li, M. Haddad, G. E. Duggan, B. A. Fernandez, E. Kanematsu, S. Gentles, C. C. Christopoulos, S. Choufani, D. Kwasnicka, X. H. Zheng, Z. Lai, D. Nusskern, Q. Zhang, Z. Gu, F. Lu, S. Zeesman, M. J. Nowaczyk, I. Teshima, D. Chitayat, C. Shuman, R. Weksberg, E. H. Zackai, T. A. Grebe, S. R. Cox, S. J. Kirkpatrick, N. Rahman, J. M. Friedman, H. H. Q. Heng, P. G. Pelicci, F. Lo-Coco, E. Belloni, L. G. Shaffer, B. Pober, C. C. Morton, J. F. Gusella, G. A. P. Bruns, B. R. Korf, B. J. Quade, A. H. Ligon, H. Ferguson, A. W. Higgins, N. T. Leach, S. R. Herrick, E. Lemyre, C. G. Farra, H. Kim, A. M. Summers, K. W. Gripp, W. Roberts, P. Szatmari, E. J. T. Winsor, K. Grzeschik, A. Teebi, B. A. Minassian, J. Kere, L. Armengol, M. A. Pujana, X. Estivill, M. D. Wilson, B. F. Koop, S. Tosi, G. E. Moore, A. P. Boright, E. Zlotorynski, B. Kerem, P. M. Kroisel, E. Petek, D. G. Oscier, S. J. Mould, H. Döhner, K. Döhner, J. M. Rommens, J. B. Vincent, J. C. Venter, P. W. Li, R. J. Mural, M. D. Adams, L. Tsui. - In: SCIENCE. - ISSN 0036-8075. - 300:5620(2003 May 02), pp. 767-72-772. [10.1126/science.1083423]
Human chromosome 7: DNA sequence and biology
P. G. Pelicci;
2003
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.
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