人类7号染色体：DNA序列与生物学特性
Human chromosome 7: DNA sequence and biology.
作者信息
Scherer Stephen W, Cheung Joseph, MacDonald Jeffrey R, Osborne Lucy R, Nakabayashi Kazuhiko, Herbrick Jo-Anne, Carson Andrew R, Parker-Katiraee Layla, Skaug Jennifer, Khaja Razi, Zhang Junjun, Hudek Alexander K, Li Martin, Haddad May, Duggan Gavin E, Fernandez Bridget A, Kanematsu Emiko, Gentles Simone, Christopoulos Constantine C, Choufani Sanaa, Kwasnicka Dorota, Zheng Xiangqun H, Lai Zhongwu, Nusskern Deborah, Zhang Qing, Gu Zhiping, Lu Fu, Zeesman Susan, Nowaczyk Malgorzata J, Teshima Ikuko, Chitayat David, Shuman Cheryl, Weksberg Rosanna, Zackai Elaine H, Grebe Theresa A, Cox Sarah R, Kirkpatrick Susan J, Rahman Nazneen, Friedman Jan M, Heng Henry H Q, Pelicci Pier Giuseppe, Lo-Coco Francesco, Belloni Elena, Shaffer Lisa G, Pober Barbara, Morton Cynthia C, Gusella James F, Bruns Gail A P, Korf Bruce R, Quade Bradley J, Ligon Azra H, Ferguson Heather, Higgins Anne W, Leach Natalia T, Herrick Steven R, Lemyre Emmanuelle, Farra Chantal G, Kim Hyung-Goo, Summers Anne M, Gripp Karen W, Roberts Wendy, Szatmari Peter, Winsor Elizabeth J T, Grzeschik Karl-Heinz, Teebi Ahmed, Minassian Berge A, Kere Juha, Armengol Lluis, Pujana Miguel Angel, Estivill Xavier, Wilson Michael D, Koop Ben F, Tosi Sabrina, Moore Gudrun E, Boright Andrew P, Zlotorynski Eitan, Kerem Batsheva, Kroisel Peter M, Petek Erwin, Oscier David G, Mould Sarah J, Döhner Hartmut, Döhner Konstanze, Rommens Johanna M, Vincent John B, Venter J Craig, Li Peter W, Mural Richard J, Adams Mark D, Tsui Lap-Chee
机构信息
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.
出版信息
Science. 2003 May 2;300(5620):767-72. doi: 10.1126/science.1083423. Epub 2003 Apr 10.
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.
本文展示了人类7号染色体的DNA序列及注释信息，该染色体包含近1.58亿个DNA核苷酸和1917个基因结构。为了生成更高级别的描述，诸如印记基因、脆性位点和节段性重复等其他结构特征在DNA序列层面与医学遗传数据整合在一起，这些医学遗传数据包括440个与疾病相关的染色体重排断点。这种方法有助于发现包括自闭症在内的发育性疾病的候选基因。
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