How have our clocks evolved? Adaptive and demographic history of the out-of-African dispersal told by polymorphic loci in circadian genes
Abstract
The mechanism of the molecular circadian clocks is currently understood as a transcription/translation feedback loop involving more than ten genes. Genetic variation at some of loci in these genes has been shaped by adaptation to environmental factors. In particular, latitudinal clines in allele frequency were documented in several animal species, but the contradictory conclusions were drawn from the results of rare human studies. Here we tested whether the out-of-African dispersal of human populations to higher latitudes of the Eurasian continent was associated with latitude-dependent shifts in allele frequency at polymorphic loci in genes of three (reference, circadian and skin pigmentation) groups. In order to detect the genetics-based signatures left by latitude-driven adaptation and to distinguish them from the confounding effects of population demographic history, we analyzed allele frequencies in 1594 individuals from 5 African and 11 Eurasian populations of the 1000 Genomes Project Phase 3. Up to 80 polymorphisms with global minor allele frequency > 0.2 were sampled from each of 36 genes (1665 polymorphisms in total). As expected, percentage of polymorphisms demonstrating both significantly enlarged differentiation of Eurasian populations on allele frequency and significant correlation between latitude and allele frequency was significantly higher in pigmentation genes compared to circadian genes and in circadian genes compared to reference genes. We also showed that the latitude-driven adaptation can be separated from genetic consequences of demographic perturbations by comparison of results obtained for the whole set of 16 African and Eurasian populations with results for only Eurasian populations that share the common demographic history. The revealed latitudinal clines in allele frequency seemed to be shaped by polygenic selection occurring by small allele frequency shifts spread across many loci in circadian and non-circadian genes. The present results provided a rationale for necessity to facilitate candidate gene studies by prioritizing genetic markers of chronotype.
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Palm, D., Uzoni, A., Simon, F., Fischer, M., Coogan, A., Tucha, O., Thome, J., & Faltraco, F. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.06.007 · Cited by 20 · see citing works
Archaic Introgression Shaped Human Circadian Traits
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Genetic-based signatures of the latitudinal differences in chronotype
Putilov, A. A., Dorokhov, V. B., Puchkova, A. N., Arsenyev, G. N., & Sveshnikov, D. S. (2019) · Biological Rhythm Research · doi:10.1080/09291016.2018.1465249 · Cited by 4 · see citing works
Self-citation
- Authors
- Putilov, A. A., Dorokhov, V. B., & Poluektov, M. G.
- Affiliations
- Institute of Molecular Biology and Biophysics (RU)
- Laboratory of Sleep/Wake Neurobiology, The Institute of Higher Nervous Activity and Neurophysiology of the Russian Academy of Sciences, Moscow, Russia
- Sechenov University (RU)
- Corresponding author
- Putilov, Arcady A.
- ORCID
- Putilov, Arcady A.
- Venue
- Chronobiology International
- Publisher
- Informa UK Limited
- Published
- 2017-12-20
- Volume
- 35
- Issue
- 4
- Pages
- 511-532
- ISSN
- 0742-0528 (ISSN-L)
- 1525-6073
- OpenAlex
- W2778013517
- Cited by
- 8
- References
- 119
- Citations by year
- 2023: 1 · 2021: 4 · 2020: 1 · 2018: 2
- FWCI
- 0.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Chronobiology International (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- clock genes, latitudinal cline, allele frequency, polygenic selection, demographic history, Eurasian populations, African populations, chronotype, transcription-translation feedback loop, 1000 Genomes Project
- MeSH terms
- Acclimatization, Circadian Rhythm, Emigration and Immigration, Gene Frequency, Genotype, Humans, Phenotype, Polymorphism, Genetic, Selection, Genetic, Skin Pigmentation, Weather, Computational Biology, Gene Expression Profiling, Databases, Genetic, Black People, White People, Asian People, Genetic Loci, Circadian Rhythm Signaling Peptides and Proteins
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