Analysis of the DNA sequence and duplication history of human chromosome 15.
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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. |
Year of Publication | 2006
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Journal | Nature
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Volume | 440
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Issue | 7084
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Pages | 671-5
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Date Published | 2006 Mar 30
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ISSN | 1476-4687
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URL | |
DOI | 10.1038/nature04601
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PubMed ID | 16572171
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Grant list | G0000107 / Medical Research Council / United Kingdom
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