title: Human chromosome 7: DNA sequence and biology.
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.
authors.affiliation: Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8. steve@genet.sickkids.on.ca
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mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D002869:Chromosome Aberrations; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019295:Computational Biology; D000013:Congenital Abnormalities / Q000235:genetics; D018899:CpG Islands; D018076:DNA, Complementary; D030541:Databases, Genetic; D022041:Euchromatin / Q000235:genetics; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D005807:Genes, Overlapping; D030342:Genetic Diseases, Inborn / Q000235:genetics; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017880:Limb Deformities, Congenital / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D011544:Pseudogenes; D012313:RNA / Q000235:genetics; D018626:Retroelements; D017422:Sequence Analysis, DNA; D018980:Williams Syndrome / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D022041:Euchromatin; D018626:Retroelements; D012313:RNA