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Nature. 2004 May 27;429(6990):369-74. doi: 10.1038/nature02465.
S J Humphray
1, K Oliver
, A R Hunt
, R W Plumb
, J E Loveland
, K L Howe
, T D Andrews
, S Searle
, S E Hunt
, C E Scott
, M C Jones
, R Ainscough
, J P Almeida
, K D Ambrose
, R I S Ashwell
, A K Babbage
, S Babbage
, C L Bagguley
, J Bailey
, R Banerjee
, D J Barker
, K F Barlow
, K Bates
, H Beasley
, O Beasley
, C P Bird
, S Bray-Allen
, A J Brown
, J Y Brown
, D Burford
, W Burrill
, J Burton
, C Carder
, N P Carter
, J C Chapman
, Y Chen
, G Clarke
, S Y Clark
, C M Clee
, S Clegg
, R E Collier
, N Corby
, M Crosier
, A T Cummings
, J Davies
, P Dhami
, M Dunn
, I Dutta
, L W Dyer
, M E Earthrowl
, L Faulkner
, C J Fleming
, A Frankish
, J A Frankland
, L French
, D G Fricker
, P Garner
, J Garnett
, J Ghori
, J G R Gilbert
, C Glison
, D V Grafham
, S Gribble
, C Griffiths
, S Griffiths-Jones
, R Grocock
, J Guy
, R E Hall
, S Hammond
, J L Harley
, E S I Harrison
, E A Hart
, P D Heath
, C D Henderson
, B L Hopkins
, P J Howard
, P J Howden
, E Huckle
, C Johnson
, D Johnson
, A A Joy
, M Kay
, S Keenan
, J K Kershaw
, A M Kimberley
, A King
, A Knights
, G K Laird
, C Langford
, S Lawlor
, D A Leongamornlert
, M Leversha
, C Lloyd
, D M Lloyd
, J Lovell
, S Martin
, M Mashreghi-Mohammadi
, L Matthews
, S McLaren
, K E McLay
, A McMurray
, S Milne
, T Nickerson
, J Nisbett
, G Nordsiek
, A V Pearce
, A I Peck
, K M Porter
, R Pandian
, S Pelan
, B Phillimore
, S Povey
, Y Ramsey
, V Rand
, M Scharfe
, H K Sehra
, R Shownkeen
, S K Sims
, C D Skuce
, M Smith
, C A Steward
, D Swarbreck
, N Sycamore
, J Tester
, A Thorpe
, A Tracey
, A Tromans
, D W Thomas
, M Wall
, J M Wallis
, A P West
, S L Whitehead
, D L Willey
, S A Williams
, L Wilming
, P W Wray
, L Young
, J L Ashurst
, A Coulson
, H Blöcker
, R Durbin
, J E Sulston
, T Hubbard
, M J Jackson
, D R Bentley
, S Beck
, J Rogers
, I Dunham
Affiliations
1. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. [email protected]
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.
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