Analysis of the DNA sequence and duplication history of human chromosome 15
2006 (English)In: Nature, ISSN 0028-0836, Vol. 440, no 7084, 671-675 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2006. Vol. 440, no 7084, 671-675 p.
Research subject Genetics
IdentifiersURN: urn:nbn:se:uu:diva-108245DOI: 10.1038/nature04601OAI: oai:DiVA.org:uu-108245DiVA: diva2:234669