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Population-Specific Genetic and Expression Differentiation in Europeans
- Source :
- Genome Biology and Evolution
- Publication Year :
- 2020
- Publisher :
- Oxford University Press (OUP), 2020.
-
Abstract
- Much of the enormous phenotypic variation observed across human populations is thought to have arisen from events experienced as our ancestors peopled different regions of the world. However, little is known about the genes involved in these population-specific adaptations. Here, we explore this problem by simultaneously examining population-specific genetic and expression differentiation in four human populations. In particular, we derive a branch-based estimator of population-specific differentiation in four populations, and apply this statistic to single-nucleotide polymorphism and RNA-seq data from Italian, British, Finish, and Yoruban populations. As expected, genome-wide estimates of genetic and expression differentiation each independently recapitulate the known relationships among these four human populations, highlighting the utility of our statistic for identifying putative targets of population-specific adaptations. Moreover, genes with large copy number variations display elevated levels of population-specific genetic and expression differentiation, consistent with the hypothesis that gene duplication and deletion events are key reservoirs of adaptive variation. Further, many top-scoring genes are well-known targets of adaptation in Europeans, including those involved in lactase persistence and vitamin D absorption, and a handful of novel candidates represent promising avenues for future research. Together, these analyses reveal that our statistic can aid in uncovering genes involved in population-specific genetic and expression differentiation, and that such genes often play important roles in a diversity of adaptive and disease-related phenotypes in humans.
- Subjects :
- Population genetics
Biology
Polymorphism, Single Nucleotide
White People
03 medical and health sciences
human evolution
0302 clinical medicine
Gene duplication
Genetics
Humans
Copy-number variation
Selection, Genetic
Gene
Ecology, Evolution, Behavior and Systematics
genetic divergence
030304 developmental biology
0303 health sciences
expression divergence
population genetics
Adaptation, Physiological
Phenotype
Genetic divergence
Lactase persistence
Genetics, Population
Evolutionary biology
030220 oncology & carcinogenesis
Adaptation
Research Article
Subjects
Details
- ISSN :
- 17596653
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Genome Biology and Evolution
- Accession number :
- edsair.doi.dedup.....eb0fcb55b8c42381342f20036ce76884