DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

Nature
Authors
Keywords
Abstract

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.

Year of Publication
2006
Journal
Nature
Volume
440
Issue
7087
Pages
1045-9
Date Published
2006 Apr 20
ISSN
1476-4687
URL
DOI
10.1038/nature04689
PubMed ID
16625196
PubMed Central ID
PMC2610434
Links
Grant list
077187 / Wellcome Trust / United Kingdom
G0000107 / Medical Research Council / United Kingdom
Wellcome Trust / United Kingdom