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The DNA sequence and analysis of human chromosome 6

Mungall, AJ; Palmer, SA; Sims, SK; Edwards, CA; Ashurst, JL; Wilming, L; Jones, MC; ... Beck, S; + view all (2003) The DNA sequence and analysis of human chromosome 6. NATURE , 425 (6960) 805 - U1. 10.1038/nature02055.

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Abstract

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.

Type: Article
Title: The DNA sequence and analysis of human chromosome 6
DOI: 10.1038/nature02055
Keywords: MAJOR HISTOCOMPATIBILITY COMPLEX, SINGLE NUCLEOTIDE POLYMORPHISMS, HUMAN-CHROMOSOME 6, HUMAN-GENOME, GENETIC-VARIATION, SEGMENTAL DUPLICATIONS, MEIOTIC RECOMBINATION, PHYSICAL MAPS, 6P22.3 GENE, LARGE-SCALE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
URI: http://discovery.ucl.ac.uk/id/eprint/133599
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