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.
|Titolo:||Human chromosome 7: DNA sequence and biology|
|Parole Chiave:||Animals; Humans; In Situ Hybridization, Fluorescence; Chromosome Mapping; Genomic Imprinting; Limb Deformities, Congenital; DNA, Complementary; Williams Syndrome; Autistic Disorder; Chromosome Fragility; Molecular Sequence Data; Databases, Genetic; Congenital Abnormalities; Pseudogenes; Euchromatin; Gene Duplication; Genes, Overlapping; Mice; Computational Biology; Sequence Analysis, DNA; Retroelements; Chromosomes, Human, Pair 7; Neoplasms; RNA; Genetic Diseases, Inborn; CpG Islands; Chromosome Fragile Sites; Chromosome Aberrations; Expressed Sequence Tags; Mutation|
|Settore Scientifico Disciplinare:||Settore MED/04 - Patologia Generale|
|Data di pubblicazione:||2-mag-2003|
|Digital Object Identifier (DOI):||10.1126/science.1083423|
|Appare nelle tipologie:||01 - Articolo su periodico|