Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.     

Structural basis of water-specific transport through the AQP1 water channel.

Water channels facilitate the rapid transport of water across cell membranes in response to osmotic gradients. These channels are believed to be involved in many physiological processes that include renal water conservation, neuro-homeostasis, digestion, regulation of body temperature and reproduction. Members of the water channel superfamily have been found in a range of cell types from bacteria to human. In mammals, there are currently 10 families of water channels, referred to as aquaporins (AQP): AQP0-AQP9. Here we report the structure of the aquaporin 1 (AQP1) water channel to 2.2 A resolution. The channel consists of three topological elements, an extracellular and a cytoplasmic vestibule connected by an extended narrow pore or selectivity filter. Within the selectivity filter, four bound waters are localized along three hydrophilic nodes, which punctuate an otherwise extremely hydrophobic pore segment. This unusual combination of a long hydrophobic pore and a minimal number of solute binding sites facilitates rapid water transport. Residues of the constriction region, in particular histidine 182, which is conserved among all known water-specific channels, are critical in establishing water specificity. Our analysis of the AQP1 pore also indicates that the transport of protons through this channel is highly energetically unfavourable.     

Shoshonitic intrusive suite in SE Guangxi: Petrology and geochemistry

A NE-direction Mesozoic shoshonitic intrusive suite in SE Guangxi has been identified in terms of geological, petrological and geochemical investigations. The shoshonitic intrusives are characterized by enrichment of LILE, HFSE and LREE and no obvious Nb-Ta depletion, similar to those potassic rocks formed in within-plate and rifting environments. Unlike most shoshonitic rocks forming in arc settings, the SE Guangxi shoshonitic intrusives were likely generated during regional lithosphere extension induced by upwelling of asthenosphere mantle.     

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.     

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not unique to cancer cells but also occurs in the germline, where it can resolve to a relatively balanced state with frequent inversions. We detected a high incidence of complex rearrangements (19.2%) and substantially less reliance on microhomology (31%) than previously observed in benign copy-number variants (CNVs). We compared these results to experimentally generated DNA breakage-repair by sequencing seven transgenic animals, revealing extensive rearrangement of the transgene and host genome with similar complexity to human germline alterations. Inversion was the most common rearrangement, suggesting that a combined mechanism involving template switching and non-homologous repair mediates the formation of balanced complex rearrangements that are viable, stably replicated and transmitted unaltered to subsequent generations.     

渤海湾盆地东濮凹陷的形成及断裂构造研究

讨论了中、新生代以来．中国东部构造应力场的变化及其对渤海湾地区的影响、作用；提出渤海湾盆地是在中国东部陆壳伸展、拉张作用的构造背景上，叠加右行走滑拉分作用形成的“拉分──伸展型”复合盆地．东濮凹陷作为渤海湾盆地系统的一部分，具有与渤海湾盆地相同的基底构造和相似的构造演化历史．本文通过对东濮凹陷基底断裂构造的特征及沿兰聊断裂两侧众多探井岩芯破裂构造的观察、分析和研究，证实了兰聊断裂在东濮凹陷形成过程中的右行平移作用．     

长白山区次生林恢复过程中天然更新的动态

以长白山区天然次生林为研究对象,采用空间代替时间的方法,分别对不同年度进行择代后形成的天然次生林进行群落学调查,分析择伐后28年恢复期间高度小于3m的幼苗幼树的天然更新过程及特点。结果表明,恢复初期更新幼苗幼树的树种出现比率较低,随着次生林恢复时间的增加,更新幼苗幼树的树种出现比率超过75％,且15年后变化相对较小;次生林内更新幼苗幼树的分布密度随着恢复时间的增加呈增加的趋势,恢复15年时分布密度达7500株／hm^2,此后分布密度的变化相对较小;在次生林内幼苗幼树主要是集中分布在距最近立木1．5～3．5m的范围内,随着次生林恢复时间的增加,幼树的分布范围相对靠近立木,幼苗的分布范围则相对远离立木。