Human Genome Project: Chromosome 6

The Wellcome Trust Sanger Institute played a substantial role in the sequencing and interpretation of the human genome, contributing almost one third of the gold-standard sequence, published in 2004. The Institute engaged in collaborative projects to sequence 9 of the 23 human chromosomes. This document is historical, presented here to provide a complete record. It might not have been updated and is a contemporary account.

Chromosome 6 publication front cover.

Chromosome 6 publication front cover. [Reprinted by permission from Macmillan Publishers Ltd: [Nature] (425 (6960): 749 - 877), ©2003]

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Chromosome 6 is a submetacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Our analysis further shows that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provides 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 have shown that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we found HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

References

  • The DNA sequence and analysis of human chromosome 6.

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    Nature 2003;425;6960;805-11

* quick link - http://q.sanger.ac.uk/1biw890j