The DNA sequence and comparative analysis of human chromosome 5

Nature. 2004 Sep 16;431(7006):268-74. doi: 10.1038/nature02919.


Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.

Publication types

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

MeSH terms

  • Animals
  • Base Composition
  • Cadherins / genetics
  • Chromosomes, Human, Pair 5 / genetics*
  • Conserved Sequence / genetics
  • Gene Duplication
  • Genes / genetics
  • Genetic Diseases, Inborn / genetics
  • Genomics
  • Humans
  • Interleukins / genetics
  • Molecular Sequence Data
  • Muscular Atrophy, Spinal / genetics
  • Pan troglodytes / genetics
  • Physical Chromosome Mapping
  • Pseudogenes / genetics
  • Sequence Analysis, DNA*
  • Synteny / genetics
  • Vertebrates / genetics


  • Cadherins
  • Interleukins

Associated data

  • RefSeq/NC_000005