Analysis of the DNA sequence and duplication history of human chromosome 15.

Nature
Authors
Keywords
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
Journal
Nature
Volume
440
Issue
7084
Pages
671-5
Date Published
2006 Mar 30
ISSN
1476-4687
URL
DOI
10.1038/nature04601
PubMed ID
16572171
Links
Grant list
G0000107 / Medical Research Council / United Kingdom