2007/04/12 by R. Alan Harris, Jeffrey Rogers, Aleksandar Milosavljevic · 31 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Biology #Chromosomal and Genetic Variations #Computational biology #Evolutionary biology #Gene #Gene duplication #Gene family #Genetics #Genome #Genome evolution #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Human genome #Segmental duplication #Structural variation
paper · doi:10.1126/science.1139477
published in Science 316(5822), 235-237 (American Association for the Advancement of Science)
openalex publication_date 2007/04/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.