Human Chromosome 7: DNA Sequence and Biology

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 int...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2003-05, Vol.300 (5620), p.767-772
Hauptverfasser:	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., Henry H. Q. Heng, Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Gail A. P. Bruns, 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, Elizabeth J. T. Winsor, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Animals Autistic disorder Autistic Disorder - genetics Biological and medical sciences Biology Chromosome Aberrations Chromosome Fragile Sites Chromosome Fragility Chromosome Mapping Chromosomes Chromosomes, Human, Pair 7 - genetics Coding Computational Biology Congenital Abnormalities - genetics CpG Islands Databases, Genetic Deoxyribonucleic acid DNA DNA, Complementary Euchromatin - genetics Expressed Sequence Tags Fundamental and applied biological sciences. Psychology Gene Duplication Genes Genes, Overlapping Genetic diseases Genetic Diseases, Inborn - genetics Genetic disorders Genetics Genomes Genomic Imprinting Genomics Human chromosomes Human genetics Humans Identification and classification In Situ Hybridization, Fluorescence Limb Deformities, Congenital - genetics Medical genetics Medicin och hälsovetenskap Methods Mice Molecular and cellular biology Molecular Sequence Data Mutation Neoplasms - genetics Nucleotide sequences Pseudogenes Research Article Retroelements RNA - genetics Sequence Analysis, DNA Williams Syndrome - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	0036-8075 1095-9203 1095-9203
DOI:	10.1126/science.1083423