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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
Published on: May 7, 2010
Human-specific changes of genome structure detected by genomic triangulation
R A Harris1, J Rogers, A Milosavljevic
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Science (New York, N.Y.)
|April 14, 2007
Summary
Understanding the rhesus macaque genome aids human genome ancestral state reconstruction. Genomic triangulation identified 130 human-specific rearrangements, revealing evolutionary changes and gene impacts.
Area of Science:
- Comparative genomics
- Human and primate evolution
- Genome structural variation
Background:
- The rhesus macaque genome sequence aids ancestral human genome reconstruction.
- Nonhuman primate genome assembly quality limits detection of structural variations and evolutionary changes.
Purpose of the Study:
- To reconstruct the ancestral state of the human genome before primate divergence.
- To identify evolutionary changes and structural variations between human, chimpanzee, and rhesus macaque genomes.
Main Methods:
- Genomic triangulation, an integrative method for ancestral state and genome evolution reconstruction.
- Integration of genomic assemblies, large-insert clones, linkage maps, and radiation hybrid maps.
Main Results:
- Identified 130 human-specific breakpoints in genome structure (10 kb to 4 Mb).
- Discovered 64 insertions affecting 58 genes.
- Found many identified rearrangements are polymorphic when compared to human structural polymorphism databases.
Conclusions:
- Genomic triangulation effectively reconstructs ancestral states and identifies intermediate-scale genome rearrangements.
- Human-specific genomic rearrangements, including gene-affecting insertions, are numerous and often polymorphic.
- Improved methods are needed to overcome challenges posed by draft genome quality in comparative genomics.
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