Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Turco, Matteo; Biscontin, Alberto; Corrias, Michela; Caccin, Laura; Bano, M; Chiaromanni, Federica; Salamanca, M; Mattei, Daniele; Salvoro, Cecilia; Mazzotta, Gabriella; Pittà, Cristiano De; Middleton, Benita; Skene, Debra J.; Montagnese, Sara

doi:10.1038/s41598-017-06769-w

Cited by 21 publications

(31 citation statements)

References 36 publications

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“…We also found evidence of positive selection in genes linked with entrainment and the master regulation of circadian clock rhythm (SFPQ and Per1) [ 31 , 32 ]. Although not in the same genes specifically, previous studies have shown polymorphisms in circadian clock regulatory genes to be related to diurnal preference [ 33 , 34 ], strengthening the link between circadian genes and diurnal behavior. While speculative, these results do provide some support toward the idea that Homotherium hunted during the day, unlike many extant cat species, which are either crepuscular or nocturnal [ 35 ].…”

Section: Resultsmentioning

confidence: 99%

Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens

et al. 2020

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Summary Homotherium was a genus of large-bodied scimitar-toothed cats, morphologically distinct from any extant felid species, that went extinct at the end of the Pleistocene [ 1 , 2 , 3 , 4 ]. They possessed large, saber-form serrated canine teeth, powerful forelimbs, a sloping back, and an enlarged optic bulb, all of which were key characteristics for predation on Pleistocene megafauna [ 5 ]. Previous mitochondrial DNA phylogenies suggested that it was a highly divergent sister lineage to all extant cat species [ 6 , 7 , 8 ]. However, mitochondrial phylogenies can be misled by hybridization [ 9 ], incomplete lineage sorting (ILS), or sex-biased dispersal patterns [ 10 ], which might be especially relevant for Homotherium since widespread mito-nuclear discrepancies have been uncovered in modern cats [ 10 ]. To examine the evolutionary history of Homotherium , we generated a ∼7x nuclear genome and a ∼38x exome from H. latidens using shotgun and target-capture sequencing approaches. Phylogenetic analyses reveal Homotherium as highly divergent (∼22.5 Ma) from living cat species, with no detectable signs of gene flow. Comparative genomic analyses found signatures of positive selection in several genes, including those involved in vision, cognitive function, and energy consumption, putatively consistent with diurnal activity, well-developed social behavior, and cursorial hunting [ 5 ]. Finally, we uncover relatively high levels of genetic diversity, suggesting that Homotherium may have been more abundant than the limited fossil record suggests [ 3 , 4 , 11 , 12 , 13 , 14 ]. Our findings complement and extend previous inferences from both the fossil record and initial molecular studies, enhancing our understanding of the evolution and ecology of this remarkable lineage.

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Section: Resultsmentioning

confidence: 99%

Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens

et al. 2020

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“…In this study, the allele was shown to encode a CRY1 protein with an internal deletion, affecting its function as a transcriptional inhibitor and lengthening the circadian period [99]. Additional findings indicate that several coding variations of the core-clock gene PER3 may be associated with late chronotype and DSPD patterns [100,101,102,103,104]; however, these studies relied on limited samples and/or may be population-specific. Finally, another example is the association between a specific mutation in the transcriptional repressor DEC2 [105] and a short sleep phenotype [106].…”

Section: Clock Genes Sleep and Metabolismmentioning

confidence: 99%

Off the Clock: From Circadian Disruption to Metabolic Disease

Maury

2019

IJMS

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Circadian timekeeping allows appropriate temporal regulation of an organism’s internal metabolism to anticipate and respond to recurrent daily changes in the environment. Evidence from animal genetic models and from humans under circadian misalignment (such as shift work or jet lag) shows that disruption of circadian rhythms contributes to the development of obesity and metabolic disease. Inappropriate timing of food intake and high-fat feeding also lead to disruptions of the temporal coordination of metabolism and physiology and subsequently promote its pathogenesis. This review illustrates the impact of genetically or environmentally induced molecular clock disruption (at the level of the brain and peripheral tissues) and the interplay between the circadian system and metabolic processes. Here, we discuss some mechanisms responsible for diet-induced circadian desynchrony and consider the impact of nutritional cues in inter-organ communication, with a particular focus on the communication between peripheral organs and brain. Finally, we discuss the relay of environmental information by signal-dependent transcription factors to adjust the timing of gene oscillations. Collectively, a better knowledge of the mechanisms by which the circadian clock function can be compromised will lead to novel preventive and therapeutic strategies for obesity and other metabolic disorders arising from circadian desynchrony.

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“…Both courses are run during the second semester (March-May) for two to four hours per week, and they have partly overlapping programmes, with molecular biology students learning more about the neurogenetic bases of circadian rhythmicity and the functional organization of the biological clock [4], and medical students learning more about the mechanisms of clock synchronisation and the health consequences of desynchronization [5,6]. Over the years practicals, which also have partly overlapping programmes, have included genotyping for clock gene polymorphisms [7], definition of chronotype [8], and direct experience of the effects of light administration on sleep-wake patterns and melatonin urinary metabolites [9,10]. Students from both courses have also been welcome to test actigraphs, polygraphs, skin and core temperature sensors and other tools for the evaluation of circadian rhythmicity, in either of the laboratories run by RC and SM.…”

Section: Introductionmentioning

confidence: 99%

Sleep, Circadian Rhythmicity and Response to Chronotherapy in University Students: Tips from Chronobiology Practicals

Montagnese

Zarantonello

Formentin

et al. 2021

Journal of Circadian Rhythms

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Chronobiology is not routinely taught to biology or medical students in most European countries. Here we present the results of the chronobiology practicals of a group of students of the University of Padova, with a view to highlight some interesting features of this group, and to share a potentially interesting cross-faculty teaching experience. Thirty-eight students (17 males; 22.9 ± 1.6 yrs) completed a set of self-administered electronic sleep quality [Pittsburgh Sleep Quality Index (PSQI)], chronotype and sleepiness [Epworth Sleepiness Scale (ESS)] questionnaires. They then went on to complete sleep diaries for two weeks. Sixteen also wore an actigraph, 8 wore wireless sensors for skin temperature, and 8 underwent a course of chronotherapy aimed at anticipating their sleep-wake timing. Analyses were performed as practicals, together with the students. Average PSQI score was 5.4 ± 1.9, with 15 (39%) students being poor sleepers. Average ESS score was 6.5 ± 3.3, with 3 (8%) students exhibiting excessive daytime sleepiness. Seven classified themselves as definitely/moderately morning, 25 as intermediates, 6 as moderately/definitely evening. Students went to bed/fell asleep significantly later on weekends, it took them less to fall asleep and they woke up/got up significantly later. Diary-reported sleep onset time coincided with the expected decrease in proximal skin temperature. Finally, during chronotherapy they took significantly less time to fall asleep. In conclusion, significant abnormalities in the sleep-wake patterns of a small group of university students were observed, and the students seemed to benefit from chronotherapy. We had a positive impression of our teaching experience, and the chronobiology courses obtained excellent student feedback.

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Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Cited by 21 publications

References 36 publications

Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens

Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens

Off the Clock: From Circadian Disruption to Metabolic Disease

Sleep, Circadian Rhythmicity and Response to Chronotherapy in University Students: Tips from Chronobiology Practicals

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