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The DNA sequence and analysis of human chromosome 6.

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

Pubmed ID: 14574404

Authors

  • Mungall AJ
  • Palmer SA
  • Sims SK
  • Edwards CA
  • Ashurst JL
  • Wilming L
  • Jones MC
  • Horton R
  • Hunt SE
  • Scott CE
  • Gilbert JG
  • Clamp ME
  • Bethel G
  • Milne S
  • Ainscough R
  • Almeida JP
  • Ambrose KD
  • Andrews TD
  • Ashwell RI
  • Babbage AK
  • Bagguley CL
  • Bailey J
  • Banerjee R
  • Barker DJ
  • Barlow KF
  • Bates K
  • Beare DM
  • Beasley H
  • Beasley O
  • Bird CP
  • Blakey S
  • Bray-Allen S
  • Brook J
  • Brown AJ
  • Brown JY
  • Burford DC
  • Burrill W
  • Burton J
  • Carder C
  • Carter NP
  • Chapman JC
  • Clark SY
  • Clark G
  • Clee CM
  • Clegg S
  • Cobley V
  • Collier RE
  • Collins JE
  • Colman LK
  • Corby NR
  • Coville GJ
  • Culley KM
  • Dhami P
  • Davies J
  • Dunn M
  • Earthrowl ME
  • Ellington AE
  • Evans KA
  • Faulkner L
  • Francis MD
  • Frankish A
  • Frankland J
  • French L
  • Garner P
  • Garnett J
  • Ghori MJ
  • Gilby LM
  • Gillson CJ
  • Glithero RJ
  • Grafham DV
  • Grant M
  • Gribble S
  • Griffiths C
  • Griffiths M
  • Hall R
  • Halls KS
  • Hammond S
  • Harley JL
  • Hart EA
  • Heath PD
  • Heathcott R
  • Holmes SJ
  • Howden PJ
  • Howe KL
  • Howell GR
  • Huckle E
  • Humphray SJ
  • Humphries MD
  • Hunt AR
  • Johnson CM
  • Joy AA
  • Kay M
  • Keenan SJ
  • Kimberley AM
  • King A
  • Laird GK
  • Langford C
  • Lawlor S
  • Leongamornlert DA
  • Leversha M
  • Lloyd CR
  • Lloyd DM
  • Loveland JE
  • Lovell J
  • Martin S
  • Mashreghi-Mohammadi M
  • Maslen GL
  • Matthews L
  • McCann OT
  • McLaren SJ
  • McLay K
  • McMurray A
  • Moore MJ
  • Mullikin JC
  • Niblett D
  • Nickerson T
  • Novik KL
  • Oliver K
  • Overton-Larty EK
  • Parker A
  • Patel R
  • Pearce AV
  • Peck AI
  • Phillimore B
  • Phillips S
  • Plumb RW
  • Porter KM
  • Ramsey Y
  • Ranby SA
  • Rice CM
  • Ross MT
  • Searle SM
  • Sehra HK
  • Sheridan E
  • Skuce CD
  • Smith S
  • Smith M
  • Spraggon L
  • Squares SL
  • Steward CA
  • Sycamore N
  • Tamlyn-Hall G
  • Tester J
  • Theaker AJ
  • Thomas DW
  • Thorpe A
  • Tracey A
  • Tromans A
  • Tubby B
  • Wall M
  • Wallis JM
  • West AP
  • White SS
  • Whitehead SL
  • Whittaker H
  • Wild A
  • Willey DJ
  • Wilmer TE
  • Wood JM
  • Wray PW
  • Wyatt JC
  • Young L
  • Younger RM
  • Bentley DR
  • Coulson A
  • Durbin R
  • Hubbard T
  • Sulston JE
  • Dunham I
  • Rogers J
  • Beck S

Journal

Nature

Publication Data

October 23, 2003

Associated Grants

None

Mesh Terms

  • Animals
  • Chromosomes, Human, Pair 6
  • Exons
  • Genes
  • Genetic Diseases, Inborn
  • HLA-B Antigens
  • Humans
  • Physical Chromosome Mapping
  • Pseudogenes
  • RNA, Transfer
  • Sequence Analysis, DNA