PUBLICATION
A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction
- Authors
- Royo, J.L., Valls, J., Acemel, R.D., Gómez-Marin, C., Pascual-Pons, M., Lupiañez, A., Gomez-Skarmeta, J.L., Fibla, J.
- ID
- ZDB-PUB-180629-9
- Date
- 2018
- Source
- PLoS One 13: e0193614 (Journal)
- Registered Authors
- Gómez-Skarmeta, José Luis, Royo, Jose Luis
- Keywords
- none
- MeSH Terms
-
- Africa
- Animals
- Animals, Genetically Modified
- Central Nervous System/metabolism
- Chromatin/metabolism
- DNA Copy Number Variations*
- Epigenesis, Genetic
- Gene Expression
- Gene Frequency
- Genetic Association Studies
- Genetic Drift*
- Haplotypes
- Human Migration*
- Humans
- Promoter Regions, Genetic
- Racial Groups/genetics
- Receptors, Cell Surface/genetics*
- Receptors, Cell Surface/metabolism
- Zebrafish
- PubMed
- 29518122 Full text @ PLoS One
Citation
Royo, J.L., Valls, J., Acemel, R.D., Gómez-Marin, C., Pascual-Pons, M., Lupiañez, A., Gomez-Skarmeta, J.L., Fibla, J. (2018) A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction. PLoS One. 13:e0193614.
Abstract
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping