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.
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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.
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Nature
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Sulston J.E.,
Beck S.,
Smith M.,
Martin S.,
Brown A.J.,
Rogers J.,
Davies J.,
Coulson A.,
Patel R.,
Durbin R.,
Smith S.,
Griffiths C.,
Carter N.P.,
Clegg S.,
Hall R.,
Bentley D.R.,
Bailey J.,
Ainscough R.,
Thorpe A.,
Wood J.M.,
Rice C.M.,
Johnson C.M.,
Horton R.,
Clark G.,
King A.,
Edwards C.A.,
Collins J.E.,
Jones M.C.,
Young L.,
Dunham I.,
White S.S.,
Phillips S.,
French L.,
West A.P.,
Wild A.,
Leversha M.,
Burton J.,
Banerjee R.,
Maslen G.L.,
Wall M.,
Durbin R.M.,
Parker A.,
Kay M.,
Niblett D.,
Oliver K.,
Gilbert J.G.R.,
Humphray S.J.,
Ross M.T.,
Andrews T.D.,
Hart E.A.,
Howell G.R.,
Huckle E.,
Matthews L.,
Mungall A.J.,
Sheridan E.,
Thomas D.W.,
Milne S.,
Ramsey Y.,
Hunt A.R.,
Beare D.M.,
Almeida J.P.,
Babbage A.K.,
Barlow K.F.,
Bird C.P.,
Blakey S.E.,
Carder C.,
Collier R.E.,
Corby N.R.,
Coville G.J.,
Grafham D.V.,
Griffiths M.N.D.,
Hunt S.E.,
Kimberley A.M.,
Laird G.K.,
Lloyd D.M.,
Mashreghi-Mohammadi M.,
Pearce A.V.,
Phillimore B.J.C.T.,
Plumb R.W.,
Scott C.E.,
Sehra H.K.,
Skuce C.D.,
Steward C.A.,
Wallis J.M.,
Wilmer T.E.,
Wilming L.,
Hubbard T.,
Bray-Allen S.,
McLay K.,
McMurray A.,
Grant M.,
Tromans A.,
Dunn M.,
Ashurst J.L.,
Bagguley C.L.
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