The DNA sequence and comparative analysis of human chromosome 10

Nature. 2004 May 27;429(6990):375-81. doi: 10.1038/nature02462.


The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. Sequence annotation revealed 1,357 genes, of which 816 are protein coding, and 430 are pseudogenes. We observed widespread occurrence of overlapping coding genes (either strand) and identified 67 antisense transcripts. Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. Multispecies comparative analysis indicated that we can readily annotate the protein-coding genes with current resources. We estimate that over 95% of all coding exons were identified in this study. Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence.

Publication types

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

MeSH terms

  • Animals
  • Base Composition
  • Chromosomes, Human, Pair 10 / genetics*
  • Contig Mapping
  • CpG Islands / genetics
  • Evolution, Molecular
  • Exons / genetics
  • Gene Duplication
  • Genes*
  • Genetic Variation / genetics
  • Genetics, Medical
  • Genomics
  • Humans
  • Pan troglodytes / genetics
  • Physical Chromosome Mapping*
  • Proteins / genetics
  • Pseudogenes / genetics
  • Sequence Analysis, DNA


  • Proteins