The DNA sequence and comparative analysis of human chromosome 20

Nature. 2001 Dec;414(6866):865-71. doi: 10.1038/414865a.


The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 20*
  • Computational Biology
  • Contig Mapping
  • DNA
  • Genetic Diseases, Inborn / genetics
  • Genetic Variation
  • Humans
  • Mice
  • Physical Chromosome Mapping
  • Proteome
  • Sequence Analysis, DNA


  • Proteome
  • DNA