Journal
NATURE
Volume 440, Issue 7084, Pages 671-675Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature04601
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- Medical Research Council [G0000107] Funding Source: researchfish
- Medical Research Council [G0000107] Funding Source: Medline
- MRC [G0000107] Funding Source: UKRI
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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(1), 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(2,3). Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity(4). 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.
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