The DNA sequence and analysis of human chromosome 6
- PMID: 14574404
- DOI: 10.1038/nature02055
The DNA sequence and analysis of human chromosome 6
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.
Comment in
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  Genomics: six is seventh.Nature. 2003 Oct 23;425(6960):775-6. doi: 10.1038/425775a. Nature. 2003. PMID: 14574390 No abstract available.
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