Large-scale comparative sequencing of primate genomes promises to reconstruct the evolutionary history of the human genome and to highlight the functional genetic differences between human and non-human primates. Regions enriched for segmental duplication are not adequately resolved within preliminary working draft genome assemblies;however, these regions contribute significantly to disease, the emergence of novel genes and are a source of considerable genetic differences between and within primate species. The object of this four-year proposal is to a) identify and validate regions of segmental duplication and structural variation in five non-human primate species (chimpanzee, orangutan, gibbon, macaque and marmoset), b) to target large-insert clones for sequencing in order to provide high-quality sequence continuity across these genetically complex regions and c) to assess the extent of polymorphism within respective populations of each primate group. The data will significantly enhance the quality of forthcoming primate genome assemblies, improve our understanding of the frequency of de novo duplications events;provide insight into the mechanisms underlying segmental duplication and improve annotation of lineage-specific gene families that lack clear orthologues within outgroup species. Such targeted studies are essential to complete our understanding of the evolution of the human genome.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
5R01HG002385-09
Application #
7666302
Study Section
Genetic Variation and Evolution Study Section (GVE)
Program Officer
Schloss, Jeffery
Project Start
2001-09-21
Project End
2010-07-31
Budget Start
2009-08-01
Budget End
2010-07-31
Support Year
9
Fiscal Year
2009
Total Cost
$441,072
Indirect Cost
Name
University of Washington
Department
Genetics
Type
Schools of Medicine
DUNS #
605799469
City
Seattle
State
WA
Country
United States
Zip Code
98195
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