TY - JOUR
T1 - Evolutionary and functional impact of common polymorphic inversions in the human genome
AU - Giner-Delgado, Carla
AU - Villatoro, Sergi
AU - Lerga-Jaso, Jon
AU - Gayà-Vidal, Magdalena
AU - Oliva, Meritxell
AU - Castellano, David
AU - Pantano, Lorena
AU - Bitarello, Bárbara D.
AU - Izquierdo, David
AU - Noguera, Isaac
AU - Olalde, Iñigo
AU - Delprat, Alejandra
AU - Blancher, Antoine
AU - Lalueza-Fox, Carles
AU - Esko, Tõnu
AU - O'Reilly, Paul F.
AU - Andrés, Aida M.
AU - Ferretti, Luca
AU - Puig, Marta
AU - Cáceres, Mario
PY - 2019/12/1
Y1 - 2019/12/1
N2 - Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1-415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.
AB - Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1-415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.
UR - http://www.scopus.com/inward/record.url?scp=85072273592&partnerID=8YFLogxK
U2 - 10.1038/s41467-019-12173-x
DO - 10.1038/s41467-019-12173-x
M3 - Article
C2 - 31530810
AN - SCOPUS:85072273592
SN - 2041-1723
VL - 10
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 4222
ER -