A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction

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2018Author
Valls Marsal, Joan
Acemel, Rafael D.
Gómez-Marin, Carlos
Pascual Pons, Mariona
Lupiañez, Arantxa
Gomez-Skarmeta, Jose Luis
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Royo Sánchez-Palencia, José Luis;
Valls Marsal, Joan;
Acemel, Rafael D.;
Gómez-Marin, Carlos;
Pascual Pons, Mariona;
Lupiañez, Arantxa;
...
Fibla Palazón, Joan.
(2018)
.
A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction.
Plos One, 2018, vol. 13, núm. 3.
https://doi.org/10.1371/journal.pone.0193614.
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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.
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Plos One, 2018, vol. 13, núm. 3European research projects
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