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DNA sequence and analysis of human chromosome 9

Humphray, SJ; Oliver, K; Hunt, AR; Plumb, RW; Loveland, JE; Howe, KL; ... Dunham, I; + view all (2004) DNA sequence and analysis of human chromosome 9. NATURE , 429 (6990) 369 - 374. 10.1038/nature02465.

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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.

Type:Article
Title:DNA sequence and analysis of human chromosome 9
DOI:10.1038/nature02465
Keywords:HUMAN GENOME SEQUENCE, BCR-ABL, SEGMENTAL DUPLICATIONS, PHYSICAL MAPS, GENE, EVOLUTION, REGION, HUMAN-CHROMOSOME-20, HETEROCHROMATIN, RECOMBINATION
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Wolfson Institute and Cancer Institute Administration > Cancer Institute > Research Department of Cancer Biology
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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