The DNA sequence and analysis of human chromosome 6

Nature. 2003 Oct 23;425(6960):805-11. doi: 10.1038/nature02055.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 6 / genetics*
  • Exons / genetics
  • Genes / genetics*
  • Genetic Diseases, Inborn / genetics
  • HLA-B Antigens / genetics
  • Humans
  • Physical Chromosome Mapping*
  • Pseudogenes / genetics
  • RNA, Transfer / genetics
  • Sequence Analysis, DNA


  • HLA-B Antigens
  • RNA, Transfer