Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

The microtubule-associated protein tau (encoded by MAPT) and several tau kinases have been implicated in neurodegeneration, but only MAPT has a proven role in disease. We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11. Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.     

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associated with elite athlete status and human muscle performance, suggesting that alpha-actinin-3 deficiency influences the function of fast muscle fibers. Here we show that loss of alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance. In addition, we demonstrate that the genomic region surrounding the 577X null allele shows low levels of genetic variation and recombination in individuals of European and East Asian descent, consistent with strong, recent positive selection. We propose that the 577X allele has been positively selected in some human populations owing to its effect on skeletal muscle metabolism.     

Effect of ethanol on toxicity and metabolism of amphetamine in the mouse.

Ethanol, 3 g/kg i.p., did not significantly alter the acute toxicity of amphetamine in the mouse. However, the urinary metabolite pattern was changed, suggesting that ethanol suppressed metabolism of the stimulant during the initial 6 h period. After 24 h, the mouse metabolized the same fraction of a given dose of amphetamine, whether it was given as amphetamine alone or amphetamine mixed with 2,3 or 4 g/kg ethanol.     

关于Quarter可层化空间

对第二纲的仿紧Quarter可层化空间进行了研究,证明了这类空间含有σ闭离散的稠密子集. 同时给出了实数集的子集是消去拓扑半群,但是不是Quarter可层化空间.     

Amplitudes, rates, periodicities and causes of temperature variations in the past 2485 years and future trends over the central-eastern Tibetan Plateau

Amplitudes, rates, periodicities, causes and future trends of temperature variations based on tree rings for the past 2485 years on the central-eastern Tibetan Plateau were analyzed. The results showed that extreme climatic events on the Plateau, such as the Medieval Warm Period, Little Ice Age and 20th Century Warming appeared synchronously with those in other places worldwide. The largest amplitude and rate of temperature change occurred during the Eastern Jin Event (343-425 AD), and not in the late 20th century. There were significant cycles of 1324 a, 800 a, 199 a, 110 a and 2-3 a in the 2485-year temperature series. The 1324 a, 800 a, 199 a and 110 a cycles are associated with solar activity, which greatly affects the Earth surface temperature. The long-term trends (>1000 a) of temperature were controlled by the millennium-scale cycle, and amplitudes were dominated by multi-century cycles. Moreover, cold intervals corresponded to sunspot minimums. The prediction indicated that the temperature will decrease in the future until to 2068 AD and then increase again.     

并六苯环石墨烯带的密度泛函研究

以并六苯环石墨烯带为研究对象,采用密度泛函理论的B3LYP方法,及6-31+G(d)基组,对该模型进行了分子轨道分析和频率计算。通过轨道分析得出了分子轨道能隙和轨道密度;经过频率计算得出模型的红外和拉曼光谱并说明了振动光谱中出现强峰的原因;最后与加氢并六苯环比较,对并六苯环石墨烯带的稳定性进行了讨论。     

Grenvillian orogeny in the Southern Cathaysia Block: Constraints from U-Pb ages and Lu-Hf isotopes in zircon from metamorphic basement

Metamorphic basement rocks in the Cathaysia Block are composed mainly of meta-sediments with different ages. New zircon U-Pb geochronological results from the meta-sedimentary rocks exposed in the Zengcheng and Hezi areas, southern Cathaysia Block, show that they consist dominantly of early Neoproterozoic （1.0-0.9 Ga） materials with minor Paleo- to Mesoproterozoic and late Neoproterozoic （0.8-0.6 Ga） components, suggesting that the detritus mostly come from a Grenvillian orogen. The youngest detrital zircon ages place a constraint on the deposition time of these sediments in Late Neoproterozoic. Zircon Hf isotopic compositions indicate that the Grenvillian zircons were derived from the reworking of Mesoproterozoic arc magmatic rocks and Paleoproterozoic continental crust, implying an arc-continent collisional setting. Single-peak age spectra and the presence of abundant euhedral Grenvillian zircons suggest that the sedimentary provenance is not far away from the sample location. Thus, the Grenvillian orogen probably preexisted along the southern margin of the Cathaysia Block, or very close to the south. Similarity in the ages of Grenvillian orogeny and the influence of the assembly of Gondwana in South China with India and East Antarctic are discussed, with suggestion that South China was more likely linked with the India-East Antarctica continents in Early Neoproterozoic rather than between western Laurentia and eastern Australia.