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Títol:
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A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction
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Autor/a:
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Royo Sánchez-Palencia, José Luis; Valls Marsal, Joan; Acemel, Rafael D.; Gómez-Marin, Carlos; Pascual Pons, Mariona; Lupiañez, Arantxa; Gomez-Skarmeta, Jose Luis; Fibla Palazón, Joan
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Notes:
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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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Drets:
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cc-by (c) Royo et al., 2018
http://creativecommons.org/licenses/by/4.0/
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Tipus de document:
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article
publishedVersion |
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Publicat per:
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Public Library of Science
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