The DNA sequence and biology of human chromosome 19

Nature. 2004 Apr 1;428(6982):529-35. doi: 10.1038/nature02399.


Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.

Publication types

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

MeSH terms

  • Alternative Splicing / genetics
  • Animals
  • Base Composition
  • Chromosomes, Human, Pair 19 / genetics*
  • Conserved Sequence / genetics
  • CpG Islands / genetics
  • Evolution, Molecular
  • Gene Duplication
  • Genes / genetics*
  • Genetics, Medical
  • Humans
  • Mice
  • Molecular Sequence Data
  • Multigene Family / genetics
  • Physical Chromosome Mapping*
  • Pseudogenes / genetics
  • Sequence Analysis, DNA

Associated data

  • RefSeq/NT_011109
  • RefSeq/NT_011295
  • RefSeq/NT_077812