title: DNA sequence and analysis of human chromosome 9.
abstract: Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. sjh@sanger.ac.uk
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mesh_terms: D001482:Base Composition; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D022041:Euchromatin / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D020440:Gene Duplication; D005796:Genes; D020131:Genes, Duplicate / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005826:Genetics, Medical; D023281:Genomics; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA; D019849:Sex Determination Processes
chemical_list: D022041:Euchromatin; D006570:Heterochromatin