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Science 13 April 2007:
Vol. 316. no. 5822, pp. 235 - 237
DOI: 10.1126/science.1139477
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Reports

Human-Specific Changes of Genome Structure Detected by Genomic Triangulation

R. A. Harris,1,2 J. Rogers,3 A. Milosavljevic1,2*

Knowledge of the rhesus macaque genome sequence enables reconstruction of the ancestral state of the human genome before the divergence of chimpanzees. However, the draft quality of nonhuman primate genome assemblies challenges the ability of current methods to detect insertions, deletions, and copy-number variations between humans, chimpanzees, and rhesus macaques and hinders the identification of evolutionary changes between these species. Because of the abundance of segmental duplications, genome comparisons require the integration of genomic assemblies and data from large-insert clones, linkage maps, and radiation hybrid maps. With genomic triangulation, an integrative method that reconstructs ancestral states and the structural evolution of genomes, we identified 130 human-specific breakpoints in genome structure due to rearrangements at an intermediate scale (10 kilobases to 4 megabases), including 64 insertions affecting 58 genes. Comparison with a human structural polymorphism database indicates that many of the rearrangements are polymorphic.

1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
2 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
3 Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245, USA.

* To whom correspondence should be addressed.

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies.
A. S. Lee, M. Gutierrez-Arcelus, G. H. Perry, E. J. Vallender, W. E. Johnson, G. M. Miller, J. O. Korbel, and C. Lee (2008)
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Evolutionary and Biomedical Insights from the Rhesus Macaque Genome.
Rhesus Macaque Genome Sequencing and Analysis Cons, R. A. Gibbs, J. Rogers, M. G. Katze, R. Bumgarner, G. M. Weinstock, E. R. Mardis, K. A. Remington, R. L. Strausberg, J. C. Venter, et al. (2007)
Science 316, 222-234
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