Open AccessA common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction
Author(s) -
José Luis Royo,
Joan Valls,
Rafael D. Acemel,
Carlos Gómez-Marín,
Mariona Pascual-Pons,
Arantxa Lupiañez,
José Luis Gómez-Skármeta,
Joan Fibla
Publication year - 2018
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0193614
Subject(s) - locus (genetics) , biology , gene duplication , haplotype , genetics , allele , enhancer , gene , human genome , copy number variation , evolutionary biology , genome , gene expression
Previous 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.