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- Medema, M. H., et al.
(författare)
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Minimum Information about a Biosynthetic Gene cluster
- 2015
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Ingår i: Nature Chemical Biology. - : Springer Science and Business Media LLC. - 1552-4450 .- 1552-4469. ; 11:9, s. 625-631
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Forskningsöversikt (refereegranskat)abstract
- A wide variety of enzymatic pathways that produce specialized metabolites in bacteria, fungi and plants are known to be encoded in biosynthetic gene clusters. Information about these clusters, pathways and metabolites is currently dispersed throughout the literature, making it difficult to exploit. To facilitate consistent and systematic deposition and retrieval of data on biosynthetic gene clusters, we propose the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard.
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| 3. |
- Wang, Z., et al.
(författare)
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Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
- 2022
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 54:9, s. 1332-1344
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Tidskriftsartikel (refereegranskat)abstract
- Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training. A missense variant in ACTN3 makes the alpha-actinin-3 filaments more flexible, resulting in lower maximal force in isolated type IIA muscle fibers, and possibly protection from exercise-induced muscle damage. Finally, Mendelian randomization analyses show that beneficial effects of lower LST and higher MVPA on several risk factors and diseases are mediated or confounded by body mass index (BMI). Our results provide insights into physical activity mechanisms and its role in disease prevention. Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.
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| 4. |
- Monroe, TO, et al.
(författare)
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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 5903-
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Tidskriftsartikel (refereegranskat)abstract
- The neuronal primary cilium and centriolar satellites have functions in neurogenesis, but little is known about their roles in the postnatal brain. We show that ablation of pericentriolar material 1 in the mouse leads to progressive ciliary, anatomical, psychomotor, and cognitive abnormalities. RNAseq reveals changes in amine- and G-protein coupled receptor pathways. The physiological relevance of this phenotype is supported by decreased available dopamine D2 receptor (D2R) levels and the failure of antipsychotic drugs to rescue adult behavioral defects. Immunoprecipitations show an association with Pcm1 and D2Rs. Finally, we sequence PCM1 in two human cohorts with severe schizophrenia. Systematic modeling of all discovered rare alleles by zebrafish in vivo complementation reveals an enrichment for pathogenic alleles. Our data emphasize a role for the pericentriolar material in the postnatal brain, with progressive degenerative ciliary and behavioral phenotypes; and they support a contributory role for PCM1 in some individuals diagnosed with schizophrenia.
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| 6. |
- Zaletel, Michael P., et al.
(författare)
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Colloquium : Quantum and classical discrete time crystals
- 2023
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Ingår i: Reviews of Modern Physics. - 0034-6861 .- 1539-0756. ; 95:3
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Forskningsöversikt (refereegranskat)abstract
- The spontaneous breaking of time-translation symmetry has led to the discovery of a new phase of matter: the discrete time crystal. Discrete time crystals exhibit rigid subharmonic oscillations that result from a combination of many-body interactions, collective synchronization, and ergodicity breaking. This Colloquium reviews recent theoretical and experimental advances in the study of quantum and classical discrete time crystals. The breaking of ergodicity is focused upon as the key to discrete time crystals and the delaying of ergodicity as the source of numerous phenomena that share many of the properties of discrete time crystals, including the ac Josephson effect, coupled map lattices, and Faraday waves. Theoretically, there is a diverse array of strategies to stabilize time crystalline order in both closed and open systems, ranging from localization and prethermalization to dissipation and error correction. Experimentally, many-body quantum simulators provide a natural platform for investigating signatures of time-crystalline order; recent work utilizing trapped ions, solid-state spin systems, and superconducting qubits are reviewed. Finally, this Colloquium concludes by describing outstanding challenges in the field and a vision for new directions on both the experimental and theoretical fronts.
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