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Analysis of the DNA sequence and duplication history of human chromosome 15
- Source :
- Nature. 440(7084)
- Publication Year :
- 2005
-
Abstract
- 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.
- Subjects :
- Molecular Sequence Data
Biology
Synteny
Evolution, Molecular
Chromosome 16
Chromosome 19
Gene Duplication
Animals
Humans
Conserved Sequence
Phylogeny
Segmental duplication
Genetics
Chromosome 7 (human)
Chromosomes, Human, Pair 15
Multidisciplinary
Polymorphism, Genetic
Genome, Human
Sequence Analysis, DNA
Macaca mulatta
Chromosome 17 (human)
Chromosome 4
Genes
Haplotypes
Multigene Family
Chromosome 21
Chromosome 22
Subjects
Details
- ISSN :
- 14764687
- Volume :
- 440
- Issue :
- 7084
- Database :
- OpenAIRE
- Journal :
- Nature
- Accession number :
- edsair.doi.dedup.....c1689df3c989f121efb1a413942291f4