RT Journal
A1 Gazave, Elodie
A1 Darré, Fleur
A1 Morcillo-Suarez, Carlos
A1 Petit-Marty, Natalia
A1 Carreño, Angel
A1 Marigorta, Urko M.
A1 Ryder, Oliver A.
A1 Blancher, Antoine
A1 Rocchi, Mariano
A1 Bosch, Elena
A1 Baker, Carl
A1 Marquès-Bonet, Tomàs
A1 Eichler, Evan E.
A1 Navarro, Arcadi
T1 Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
JF Genome Research 
JO Genome Research 
YR 2011 
FD October 01 
VO 21 
IS 10 
SP 1626 
OP 1639 
DO 10.1101/gr.117242.110 
UL http://genome.cshlp.org/content/21/10/1626.abstract 
AB Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV data. We performed intraspecific comparative genomic hybridizations to identify loci harboring copy number variants in each of the four great apes: bonobos, chimpanzees, gorillas, and orangutans. For the first time, we could analyze differences in CNV location and frequency in these four species, and compare them with human CNVs and primate segmental duplication (SD) maps. In addition, for bonobo and gorilla, patterns of CNV and nucleotide diversity were studied in the same individuals. We show that CNVs have been subject to different selective pressures in different lineages. Evidence for purifying selection is stronger in gorilla CNVs overlapping genes, while positive selection appears to have driven the fixation of structural variants in the orangutan lineage. In contrast, chimpanzees and bonobos present high levels of common structural polymorphism, which is indicative of relaxed purifying selection together with the higher mutation rates induced by the known burst of segmental duplication in the ancestor of the African apes. Indeed, the impact of the duplication burst is noticeable by the fact that bonobo and chimpanzee share more CNVs with gorilla than expected. Finally, we identified a number of interesting genomic regions that present high-frequency CNVs in all great apes, while containing only very rare or even pathogenic structural variants in humans.