Humphray, SJ and Oliver, K and Hunt, AR and Plumb, RW and Loveland, JE and Howe, KL and Andrews, TD and Searle, S and Hunt, SE and Scott, CE and Jones, MC and Ainscough, R and Almeida, JP and Ambrose, KD and Ashwell, RIS and Babbage, AK and Babbage, S and Bagguley, CL and Bailey, J and Banerjee, R and Barker, DJ and Barlow, KF and Bates, K and Beasley, H and Beasley, O and Bird, CP and Bray-Allen, S and Brown, AJ and Brown, JY and Burford, D and Burrill, W and Burton, J and Carder, C and Carter, NP and Chapman, JC and Chen, Y and Clarke, G and Clark, SY and Clee, CM and Clegg, S and Collier, RE and Corby, N and Crosier, M and Cummings, AT and Davies, J and Dhami, P and Dunn, M and Dutta, I and Dyer, LW and Earthrowl, ME and Faulkner, L and Fleming, CJ and Frankish, A and Frankland, JA and French, L and Fricker, DG and Garner, P and Garnett, J and Ghori, J and Gilbert, JGR and Glison, C and Grafham, DV and Gribble, S and Griffiths, C and Jones, SG and Grocock, R and Guy, J and Hall, RE and Hammond, S and Harley, JL and Harrison, ESI and Hart, EA and Heath, PD and Henderson, CD and Hopkins, BL and Howard, PJ and Howden, PJ and Huckle, E and Johnson, C and Johnson, D and Joy, AA and Kay, M and Keenan, S and Kershaw, JK and Kimberley, AM and King, A and Knights, A and Laird, GK and Langford, C and Lawlor, S and Leongamornlert, DA and Leversha, M and Lloyd, C and Lloyd, DM and Lovell, J and Martin, S and Mashreghi-Mohammadi, M and Matthews, L and McLaren, S and McLay, KE and McMurray, A and Milne, S and Nickerson, T and Nisbett, J and Nordsiek, G and Pearce, AV and Peck, AI and Porter, KM and Pandian, R and Pelan, S and Phillimore, B and Povey, S and Ramsey, Y and Rand, V and Scharfe, M and Sehra, HK and Shownkeen, R and Sims, SK and Skuce, CD and Smith, M and Steward, CA and Swarbreck, D and Sycamore, N and Tester, J and Thorpe, A and Tracey, A and Tromans, A and Thomas, DW and Wall, M and Wallis, JM and West, AP and Whitehead, SL and Willey, DL and Williams, SA and Wilming, L and Wray, PW and Young, L and Ashurst, JL and Coulson, A and Blocker, H and Durbin, R and Sulston, JE and Hubbard, T and Jackson, MJ and Bentley, DR and Beck, S and Rogers, J and Dunham, I (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 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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