Human-specific changes of genome structure detected by genomic triangulation.

TitleHuman-specific changes of genome structure detected by genomic triangulation.
Publication TypeJournal Article
Year of Publication2007
AuthorsR Harris, A, Rogers, J, Milosavljevic, A
JournalScience
Volume316
Issue5822
Pagination235-7
Date Published2007 Apr 13
ISSN1095-9203
KeywordsAnimals, Chromosomes, Artificial, Bacterial, Evolution, Molecular, Gene Rearrangement, Genetic Techniques, Genome, Human, Humans, Macaca mulatta, Pan troglodytes, Polymorphism, Genetic, Species Specificity
Abstract

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.

DOI10.1126/science.1139477
Alternate JournalScience
PubMed ID17431168
Grant ListR01 004009-1 / / PHS HHS / United States
R01 02583-01 / / PHS HHS / United States
R24-RR015383 / RR / NCRR NIH HHS / United States
U01 RR 18464 / RR / NCRR NIH HHS / United States