2. Academic Validation
  3. DNA sequence and analysis of human chromosome 9

DNA sequence and analysis of human chromosome 9

  • 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

Affiliation

  • 1 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. [email protected]
PMID: 15164053 DOI: 10.1038/nature02465
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.

Figures