Analysis of the DNA sequence and duplication history of human chromosome 15

Nature. 2006 Mar 30;440(7084):671-5. doi: 10.1038/nature04601.


Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 15 / genetics*
  • Conserved Sequence / genetics
  • Evolution, Molecular*
  • Gene Duplication*
  • Genes
  • Genome, Human
  • Haplotypes / genetics
  • Humans
  • Macaca mulatta / genetics
  • Molecular Sequence Data
  • Multigene Family / genetics
  • Phylogeny
  • Polymorphism, Genetic / genetics
  • Sequence Analysis, DNA
  • Synteny / genetics

Associated data

  • RefSeq/NC_000015