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.

Scherer, S., Cheung, J., Macdonald, J., Osborne, L., Nakabayashi, K., Herbrick, J., et al. (2003). Human chromosome 7: DNA sequence and biology. SCIENCE, 300(5620), 767-772 [10.1126/science.1083423].

Human chromosome 7: DNA sequence and biology

LO COCO, FRANCESCO;
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.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - Malattie del Sangue
English
Animals; Autistic Disorder; Chromosome Aberrations; Chromosome Fragile Sites; Chromosome Fragility; Chromosome Mapping; Chromosomes, Human, Pair 7; Computational Biology; Congenital Abnormalities; CpG Islands; DNA, Complementary; Databases, Genetic; Euchromatin; Expressed Sequence Tags; Gene Duplication; Genes, Overlapping; Genetic Diseases, Inborn; Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence; Limb Deformities, Congenital; Mice; Molecular Sequence Data; Mutation; Neoplasms; Pseudogenes; RNA; Retroelements; Williams Syndrome; Sequence Analysis, DNA
Scherer, S., Cheung, J., Macdonald, J., Osborne, L., Nakabayashi, K., Herbrick, J., et al. (2003). Human chromosome 7: DNA sequence and biology. SCIENCE, 300(5620), 767-772 [10.1126/science.1083423].
Scherer, S; Cheung, J; Macdonald, J; Osborne, L; Nakabayashi, K; Herbrick, J; Carson, A; Parker Katiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, A; Li, M; Haddad, M; Duggan, G; Fernandez, B; Kanematsu, E; Gentles, S; Christopoulos, C; Choufani, S; Kwasnicka, D; Zheng, X; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, M; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, E; Grebe, T; Cox, S; Kirkpatrick, S; Rahman, N; Friedman, J; Heng, H; Pelicci, P; LO COCO, F; Belloni, E; Shaffer, L; Pober, B; Morton, C; Gusella, J; Bruns, G; Korf, B; Quade, B; Ligon, A; Ferguson, H; Higgins, A; Leach, N; Herrick, S; Lemyre, E; Farra, C; Kim, H; Summers, A; Gripp, K; Roberts, W; Szatmari, P; Winsor, E; Grzeschik, K; Teebi, A; Minassian, B; Kere, J; Armengol, L; Pujana, M; Estivill, X; Wilson, M; Koop, B; Tosi, S; Moore, G; Boright, A; Zlotorynski, E; Kerem, B; Kroisel, P; Petek, E; Oscier, D; Mould, S; Dohner, H; Dohner, K; Rommens, J; Vincent, J; Venter, J; Li, P; Mural, R; Adams, M; Tsui, L
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/162063
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