Recent segmental duplications in the human genome

Science. 2002 Aug 9;297(5583):1003-7. doi: 10.1126/science.1072047.


Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity.

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • Biological Evolution
  • Chromosomes, Human / genetics
  • Computational Biology
  • Databases, Nucleic Acid
  • Exons
  • Expressed Sequence Tags
  • Gene Duplication*
  • Gene Rearrangement
  • Genes, Duplicate*
  • Genetic Diseases, Inborn / genetics
  • Genome, Human*
  • Humans
  • Models, Genetic
  • Polymorphism, Single Nucleotide
  • Proteome
  • Recombination, Genetic
  • Sequence Alignment


  • Proteome