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Analysis of the DNA sequence and duplication history of human chromosome 15
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- Zody, Michael, 1968- (author)
- Broad Institute
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- Garber, Manuel (author)
- Broad Institute
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- Sharpe, Ted (author)
- Broad Institute
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- (creator_code:org_t)
- Springer Science and Business Media LLC, 2006
- 2006
- English.
- In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 440:7084, s. 671-675
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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 duplication 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.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- Genetics
- Genetik
- Genetics
- Genetik
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- ref (subject category)
- art (subject category)
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- About the subject
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- NATURAL SCIENCES
- NATURAL SCIENCES
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- and Genetics
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- Nature
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- Uppsala University
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