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dc.contributor.authorRoyo Sánchez-Palencia, José Luis
dc.contributor.authorValls Marsal, Joan
dc.contributor.authorAcemel, Rafael D.
dc.contributor.authorGómez-Marin, Carlos
dc.contributor.authorPascual Pons, Mariona
dc.contributor.authorLupiañez, Arantxa
dc.contributor.authorGomez-Skarmeta, Jose Luis
dc.contributor.authorFibla Palazón, Joan
dc.description.abstractPrevious reports have proposed that personality may have played a role on human Out-Of- Africa migration, pinpointing some genetic variants that were positively selected in the migrating populations. In this work, we discuss the role of a common copy-number variant within the SIRPB1 gene, recently associated with impulsive behavior, in the human Out-Of-Africa migration. With the analysis of the variant distribution across forty-two different populations, we found that the SIRPB1 haplotype containing duplicated allele significantly correlated with human migratory distance, being one of the few examples of positively selected loci found across the human world colonization. Circular Chromosome Conformation Capture (4C-seq) experiments from the SIRPB1 promoter revealed important 3D modifications in the locus depending on the presence or absence of the duplication variant. In addition, a 3' enhancer showed neural activity in transgenic models, suggesting that the presence of the CNV may compromise the expression of SIRPB1 in the central nervous system, paving the way to construct a molecular explanation of the SIRPB1 variants role in human migration.ca_ES
dc.publisherPublic Library of Scienceca_ES
dc.relation.isformatofReproducció del document publicat a
dc.relation.ispartofPlos One, 2018, vol. 13, núm. 3ca_ES
dc.rightscc-by (c) Royo et al., 2018ca_ES
dc.titleA common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correctionca_ES

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cc-by (c) Royo et al., 2018
Except where otherwise noted, this item's license is described as cc-by (c) Royo et al., 2018