DNA sequence and analysis of human chromosome 18

Nature. 2005 Sep 22;437(7058):551-5. doi: 10.1038/nature03983.


Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.

Publication types

  • Comparative Study

MeSH terms

  • Aneuploidy
  • Animals
  • Chromosomes, Human, Pair 18 / genetics*
  • Conserved Sequence / genetics
  • CpG Islands / genetics
  • DNA / genetics*
  • Exons / genetics
  • Expressed Sequence Tags
  • Genes / genetics
  • Genome, Human
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Sequence Analysis, DNA
  • Synteny


  • DNA

Associated data

  • RefSeq/NC_000018