2024-03-28T10:48:57Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/771212021-12-27T15:51:43Zcom_10261_9676com_10261_8col_10261_9677
Accelerated exon evolution within primate segmental duplications
Lorente-Galdós, Belén
Bleyhl, Jonathan
Santpere, Gabriel
Vives, Laura
Ramírez, Óscar
Hernandez, Jessica
Anglada, Roger
Cooper, Gregory M
Navarro, Arcadi
Eichler, Evan E.
Marqués-Bonet, Tomàs
This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
[Background] The identification of signatures of natural selection has long been used as an approach to understanding the unique features of any given species. Genes within segmental duplications are overlooked in most studies of selection due to the limitations of draft nonhuman genome assemblies and to the methodological reliance on accurate gene trees, which are difficult to obtain for duplicated genes.
[Results] In this work, we detected exons with an accumulation of high-quality nucleotide differences between the human assembly and shotgun sequencing reads from single human and macaque individuals. Comparing the observed rates of nucleotide differences between coding exons and their flanking intronic sequences with a likelihood-ratio test, we identified 74 exons with evidence for rapid coding sequence evolution during the evolution of humans and Old World monkeys. Fifty-five percent of rapidly evolving exons were either partially or totally duplicated, which is a significant enrichment of the 6% rate observed across all human coding exons.
[Conclusions] Our results provide a more comprehensive view of the action of selection upon segmental duplications, which are the most complex regions of our genomes. In light of these findings, we suggest that segmental duplications could be subjected to rapid evolution more frequently than previously thought.
2013-05-29T19:10:20Z
2013-05-29T19:10:20Z
2013-01-29
2013-05-29T19:10:21Z
artículo
Genome Biology 14(1): R9 (2013)
1465-6906
http://hdl.handle.net/10261/77121
10.1186/gb-2013-14-1-r9
23360670
eng
Publisher’s version
http://dx.doi.org/10.1186/gb-2013-14-1-r9
Sí
Belen Lorente-Galdos et al.; licensee BioMed Central Ltd.
http://creativecommons.org/licenses/by/2.0
openAccess
BioMed Central