%0 Journal Article %1 aguado2014validation %A Aguado, Cristina %A Gayà-Vidal, Magdalena %A Villatoro, Sergi %A Oliva, Meritxell %A Izquierdo, David %A Giner-Delgado, Carla %A Montalvo, Víctor %A García-González, Judit %A Martínez-Fundichely, Alexander %A Capilla, Laia %A Ruiz-Herrera, Aurora %A Estivill, Xavier %A Puig, Marta %A Cáceres, Mario %D 2014 %I Public Library of Science %J PLoS Genet %K human_genome inversions recurrent_mutation structural_variation %N 3 %P e1004208 %R 10.1371/journal.pgen.1004208 %T Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence %U http://dx.doi.org/10.1371%2Fjournal.pgen.1004208 %V 10 %X Inversions have been an evolutionary biology model for almost a century, and recently the discovery of a high amount of structural variation in multiple organisms, including humans, has renewed the interest in them. Since early on, it was shown that they were adaptive and that they were involved in human diseases. However, in humans, the study of inversions has lagged behind due to important limitations in the experimental methods to analyze them. Here, we have optimized a technique for high-throughput validation and genotyping of inversions mediated by inverted repeats. By genotyping 17 of these inversions in a diverse sample of human individuals, including many of European origin and several non-human primates, we have carried out the most complete genotyping effort of human inversions to date. The results of our study indicate that a high proportion of these inversions are recurrent and have occurred multiple times during evolution. This represents an example of the plasticity of the genome and opens a new paradigm in the study of inversions, challenging the common view that inversions have a unique origin.

@article{aguado2014validation, abstract = {Inversions have been an evolutionary biology model for almost a century, and recently the discovery of a high amount of structural variation in multiple organisms, including humans, has renewed the interest in them. Since early on, it was shown that they were adaptive and that they were involved in human diseases. However, in humans, the study of inversions has lagged behind due to important limitations in the experimental methods to analyze them. Here, we have optimized a technique for high-throughput validation and genotyping of inversions mediated by inverted repeats. By genotyping 17 of these inversions in a diverse sample of human individuals, including many of European origin and several non-human primates, we have carried out the most complete genotyping effort of human inversions to date. The results of our study indicate that a high proportion of these inversions are recurrent and have occurred multiple times during evolution. This represents an example of the plasticity of the genome and opens a new paradigm in the study of inversions, challenging the common view that inversions have a unique origin.}, added-at = {2015-03-27T17:58:41.000+0100}, author = {Aguado, Cristina and Gayà-Vidal, Magdalena and Villatoro, Sergi and Oliva, Meritxell and Izquierdo, David and Giner-Delgado, Carla and Montalvo, Víctor and García-González, Judit and Martínez-Fundichely, Alexander and Capilla, Laia and Ruiz-Herrera, Aurora and Estivill, Xavier and Puig, Marta and Cáceres, Mario}, biburl = {https://www.bibsonomy.org/bibtex/24c7af83cb6fb5a6dac866556c39bb12d/peter.ralph}, doi = {10.1371/journal.pgen.1004208}, interhash = {2d84c1dac1691647ad863981bd3b270d}, intrahash = {4c7af83cb6fb5a6dac866556c39bb12d}, journal = {PLoS Genet}, keywords = {human_genome inversions recurrent_mutation structural_variation}, month = {03}, number = 3, pages = {e1004208}, publisher = {Public Library of Science}, timestamp = {2015-03-27T17:58:41.000+0100}, title = {Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence}, url = {http://dx.doi.org/10.1371%2Fjournal.pgen.1004208}, volume = 10, year = 2014 }