The finished DNA sequence of human chromosome 12

Nature. 2006 Mar 16;440(7082):346-51. doi: 10.1038/nature04569.


Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. The rate of base substitutions in recent evolutionary history shows an overall slowing in hominids compared with primates and rodents.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Base Composition
  • Chromosomes, Human, Pair 12 / genetics*
  • CpG Islands / genetics
  • Evolution, Molecular
  • Expressed Sequence Tags
  • Genes / genetics
  • Humans
  • Linkage Disequilibrium / genetics
  • Microsatellite Repeats / genetics
  • Molecular Sequence Data
  • Mutagenesis, Insertional / genetics
  • Pan troglodytes / genetics
  • Sequence Analysis, DNA
  • Sequence Deletion / genetics
  • Short Interspersed Nucleotide Elements / genetics
  • Synteny / genetics

Associated data

  • RefSeq/NC_000012