In an upcoming G&D paper, a team of German scientists presents a genetic basis for understanding human morning lark behavior. Dr. Achim Kramer (Charité Universitaetsmedizin Berlin) and colleagues have uncovered a genetic cause for the human familial advanced sleep phase syndrome (FASPS), which causes people to both go to sleep and wake up very early.
"Being a morning lark or a night owl is something encoded in people's genes and we here made substantial progress to uncover the molecular basis for that," explains Dr. Kramer.
FASPS is a dominantly inherited circadian rhythm disorder in which patients' inborn biological clock (or circadian clock as it is known by scientists) runs ahead of normal. Circadian clocks are found in organisms ranging from bacteria to humans. They keep our bodies' daily activities, like sleeping and eating, on a roughly 24 hour schedule, or period. FASPS patients' periods are about 4 hours advanced, causing the patients to retire at 6 or 7pm and rise by 4am. In 1999, it was discovered that a mutated gene, called PERIOD2 (PER2) is mutated in many cases of FASPS.
Dr. Kramer and colleagues mapped phosphorylation sites on the PER2 protein. They identified 21 sites, one of which (Serine 659), was implicated in FASPS. By monitoring the bioluminescence cycles of cell lines, the researchers demonstrated that mutation of Serine 659 causes a shortening of the luminescence period and recapitulates the FASPS phenotype. The researchers determined that the mutated form of Serine 659, which does not get phosphorylated, leads to PER2's destabilization and earlier clearance from the cell nucleus.
The research team went on to show that mutations of other PER2 phosphorylation sites have differential effects on PER2 protein stability, circadian period length, and organismal behavior. In fact, using a simple mathematical algorithm modeled after their work, the researchers successfully explained how different PER phosphorylation defects result in the behaviors displayed by well-known circadian mutants in hamsters and fruit flies.
Dr. Kramer adds that "This is the first example where the regulation of a complex human behaviour could be really nailed down to its genetic basis and molecular mechanism."
Heather Cosel | EurekAlert!
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22.09.2017 | Max-Planck-Institut für Biochemie
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Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
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For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
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