Evolution of a Length Polymorphism in the Human PER3 Gene, a Component of the Circadian System
- 1 December 2005
- journal article
- Published by SAGE Publications in Journal of Biological Rhythms
- Vol. 20 (6), 490-499
- https://doi.org/10.1177/0748730405281332
Abstract
Period homologue 3 ( PER3) is a component of the mammalian circa-dian system, although its precise role is unknown. A biallelic variable number tandem repeat (VNTR) polymorphism exists in human PER3, consisting of 4 or 5 repeats of a 54-bp sequence in a region encoding a putative phosphorylation domain. This polymorphism has previously been reported to associate with diurnal preference (“morningness” and “eveningness”) and delayed sleep-phase syndrome. We have investigated the global allele frequencies of this variant in ethnically distinct indigenous populations. All populations were polymorphic, with the shorter (4-repeat) allele ranging in frequency from 0.19 (Papua New Guinea) to 0.89 (Mongolia). To investigate if allele frequency has been influenced by natural selection, the authors 1) tested for a correlation with latitude and mean annual insolation (incident sunlight energy), using classical markers to correct for historical population differentiation; and they 2) compared allele-frequency difference between European American, African American, and East Asian populations, as measured using FST, to an empirical null distribution of FSTvalues based on a genome-wide dataset of single nucleotide polymorphisms (SNPs) of presumed neutral loci that were previously typed by The SNP Consortium. The variation in allele frequencies between indigenous populations did not show a pattern that would indicate selective pressure on PER3resulting from day-length variation or mean annual insolation, and the allele-frequency difference between European Americans, African Americans, and East Asians was not an outlier when compared to the distribution for presumed neutral SNPs. We therefore find no evidence for differential or balancing selection in the contemporary pattern of global PER3allele frequencies.Keywords
This publication has 20 references indexed in Scilit:
- Expansion during Primate Radiation of a Variable Number Tandem Repeat in the Coding Region of the Circadian Clock Gene Period3Journal of Biological Rhythms, 2005
- MAMMALIAN CIRCADIAN BIOLOGY: Elucidating Genome-Wide Levels of Temporal OrganizationAnnual Review of Genomics and Human Genetics, 2004
- Enhanced Fitness Conferred by Naturally Occurring Variation in the Circadian ClockScience, 2003
- The Circadian Gene Period2 Plays an Important Role in Tumor Suppression and DNA Damage Response In VivoCell, 2002
- Coordination of circadian timing in mammalsNature, 2002
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001
- Demography of sleep disturbances associated with circadian rhythm disorders in JapanPsychiatry and Clinical Neurosciences, 1999
- The prevalence of delayed and advanced sleep phase syndromesJournal of Sleep Research, 1993
- A latitudinal cline in aDrosophilaclock geneProceedings. Biological sciences, 1992
- Population structure and human evolutionProceedings of the Royal Society of London. B. Biological Sciences, 1966