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Pubmed ID :14574404
Publication Date : //

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.

Authors : Mungall A J , Palmer S A , Sims S K , Edwards C A , Ashurst J L , Wilming L , Jones M C , Horton R , Hunt S E , Scott C E , Gilbert J G R , Clamp M E , Bethel G , Milne S , Ainscough R , Almeida J P , Ambrose K D , Andrews T D , Ashwell R I S , Babbage A K , Bagguley C L , Bailey J , Banerjee R , Barker D J , Barlow K F , Bates K , Beare D M , Beasley H , Beasley O , Bird C P , Blakey S , Bray-Allen S , Brook J , Brown A J , Brown J Y , Burford D C , Burrill W , Burton J , Carder C , Carter N P , Chapman J C , Clark S Y , Clark G , Clee C M , Clegg S , Cobley V , Collier R E , Collins J E , Colman L K , Corby N R , Coville G J , Culley K M , Dhami P , Davies J , Dunn M , Earthrowl M E , Ellington A E , Evans K A , Faulkner L , Francis M D , Frankish A , Frankland J , French L , Garner P , Garnett J , Ghori M J R , Gilby L M , Gillson C J , Glithero R J , Grafham D V , Grant M , Gribble S , Griffiths C , Griffiths M , Hall R , Halls K S , Hammond S , Harley J L , Hart E A , Heath P D , Heathcott R , Holmes S J , Howden P J , Howe K L , Howell G R , Huckle E , Humphray S J , Humphries M D , Hunt A R , Johnson C M , Joy A A , Kay M , Keenan S J , Kimberley A M , King A , Laird G K , Langford C , Lawlor S , Leongamornlert D A , Leversha M , Lloyd C R , Lloyd D M , Loveland J E , Lovell J , Martin S , Mashreghi-Mohammadi M , Maslen G L , Matthews L , McCann O T , McLaren S J , McLay K , McMurray A , Moore M J F , Mullikin J C , Niblett D , Nickerson T , Novik K L , Oliver K , Overton-Larty E K , Parker A , Patel R , Pearce A V , Peck A I , Phillimore B , Phillips S , Plumb R W , Porter K M , Ramsey Y , Ranby S A , Rice C M , Ross M T , Searle S M , Sehra H K , Sheridan E , Skuce C D , Smith S , Smith M , Spraggon L , Squares S L , Steward C A , Sycamore N , Tamlyn-Hall G , Tester J , Theaker A J , Thomas D W , Thorpe A , Tracey A , Tromans A , Tubby B , Wall M , Wallis J M , West A P , White S S , Whitehead S L , Whittaker H , Wild A , Willey D J , Wilmer T E , Wood J M , Wray P W , Wyatt J C , Young L , Younger R M , Bentley D R , Coulson A , Durbin R , Hubbard T , Sulston J E , Dunham I , Rogers J , Beck S ,

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