西伯利亚南部黄土沉积物的磁学性质

对西伯利亚南部Ｋｕｒｔａｋ剖在末次间冰期以来黄土－古土壤进行了较为详细的岩石磁学研究。实验结果表明该剖面磁化率变化特征与阿拉斯加风成沉积物相同，与中国黄土完全相反，Ｋｕｒｔａｋ剖面黄土和古土壤的频率磁化率值基本一致，这表明其成土作用较弱，磁化率随温度的变化特征以及等温剩磁测定结果揭示出黄土和古土壤的磁性的都是以磁铁矿为主，只含有极少的磁赤铁矿和赤铁矿，磁化率各向异性研究表明，Ｋｕｒｔａｋ地区黄土沉     

Rock-magnetic investigation of Siberia loess and its implication

Multiple-rock magnetic investigations conducted on the loess-paleosol sequences at Kurtak in Southwestern Siberia reveal that the mass-normalized low-field magnetic susceptibility profiles reflect changes in lithology between relatively unweathered primary loess of glacial periods and the interglacial paleosols. Maxima in susceptibility values correspond with the least-weathered loess horizons, and minima with the humic horizons of soils. Frequency-dependent susceptibility of the loess-paleosol sequences at Kurtak is very low and practically uniform, indicating the dominance of non-SP ferrimagnetic minerals and negligible pedogenesis. The history of temperature-dependence of susceptibility (TDS) and stepwise acquisition of the isothermal remanent magnetization (SIRM) have confirmed that magnetite is predominant magnetic mineral, and only few maghemite and probably hematite are present within the studied section. Anisotropy of the magnetic susceptibility (AMS) can be used to monitor tilt and disturbance of the sedimentary layers, and also to provide information about the paleo-transport direction for Siberia loess.     

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Charcot-Marie-Tooth (CMT) neuropathies are common disorders of the peripheral nervous system caused by demyelination or axonal degeneration, or a combination of both features. We previously assigned the locus for autosomal dominant intermediate CMT neuropathy type C (DI-CMTC) to chromosome 1p34-p35. Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. Biochemical experiments and genetic complementation in yeast show partial loss of aminoacylation activity of the mutant proteins, and mutations in YARS, or in its yeast ortholog TYS1, reduce yeast growth. YARS localizes to axonal termini in differentiating primary motor neuron and neuroblastoma cultures. This specific distribution is significantly reduced in cells expressing mutant YARS proteins. YARS is the second aminoacyl-tRNA synthetase found to be involved in CMT, thereby linking protein-synthesizing complexes with neurodegeneration.     

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous system resulting in severe atrophy and wasting of distal limb muscles. In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, we identified the same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8; also called HSP22). We found a second mutation (K141E) in two smaller families. Both mutations target the same amino acid, which is essential to the structural and functional integrity of the small heat-shock protein alphaA-crystallin. This positively charged residue, when mutated in other small heat-shock proteins, results in various human disorders. Coimmunoprecipitation experiments showed greater binding of both HSPB8 mutants to the interacting partner HSPB1. Expression of mutant HSPB8 in cultured cells promoted formation of intracellular aggregates. Our findings provide further evidence that mutations in heat-shock proteins have an important role in neurodegenerative disorders.