Experimental validation of inter-subspecific genetic diversity in rice represented by the differences between the DNA sequences of ‘Nipponbare’ and ‘93-11’

The pedigrees of three sequenced rice cultivars were analyzed to show that a majority of the genetic composition of 'Nipponbare' originates from japonica cultivars while the minority originates from indica cultivars. In contrast, '93-11' is derived mainly from indica cultivars with a smaller contribution from japonica cultivars. All ancestors of 'Guang lu ai 4' appeared to be indica lines. A set of molecular markers (46 InDels and 53 SSRs) polymorphic between 'Nipponbare' and '93-11' were examined in 46 typical indica and 47 typical japonica cultivars selected from 443 accessions according to Cheng's index. All cultivars were divided into indica and japonica groups without overlapping when clustered by Cheng's index, InDels and SSRs. Much higher InDel and SSR diversity between groups than within groups implies that the marker polymorphisms between 'Nipponbare' and '93-11' represent a large proportion of inter-subspecific diversity. About 85% of indica cultivars and more than 90% of japonica cultivars were confirmed to have the same PCR banding patterns as '93-11' and 'Nipponbare', respectively. Some polymorphic loci between 'Nipponbare' and '93-11' cannot be validated in other indica and japonica cultivars, either as subspecies-specific but not predominant alleles, or alleles not specific between the two groups. It was concluded that molecular markers developed from sequence polymorphism between 'Nipponbare' and '93-11' often represent inter-subspecific diversity, although some exceptions were sensitive to either particular marker loci or particular cultivars.     

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

Collagen VI is an extracellular matrix protein that forms a microfilamentous network in skeletal muscles and other organs. Inherited mutations in genes encoding collagen VI in humans cause two muscle diseases, Bethlem myopathy and Ullrich congenital muscular dystrophy. We previously generated collagen VI-deficient (Col6a1-/-) mice and showed that they have a muscle phenotype that strongly resembles Bethlem myopathy. The pathophysiological defects and mechanisms leading to the myopathic disorder were not known. Here we show that Col6a1-/- muscles have a loss of contractile strength associated with ultrastructural alterations of sarcoplasmic reticulum (SR) and mitochondria and spontaneous apoptosis. We found a latent mitochondrial dysfunction in myofibers of Col6a1-/- mice on incubation with the selective F1F(O)-ATPase inhibitor oligomycin, which caused mitochondrial depolarization, Ca2+ deregulation and increased apoptosis. These defects were reversible, as they could be normalized by plating Col6a1-/- myofibers on collagen VI or by addition of cyclosporin A (CsA), the inhibitor of mitochondrial permeability transition pore (PTP). Treatment of Col6a1-/- mice with CsA rescued the muscle ultrastructural defects and markedly decreased the number of apoptotic nuclei in vivo. These findings indicate that collagen VI myopathies have an unexpected mitochondrial pathogenesis that could be exploited for therapeutic intervention.     

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.     

Heritable and inducible genetic interference by double-stranded RNA encoded by transgenes

Double-stranded RNA interference (RNAi) is an effective method for disrupting expression of specific genes in Caenorhabditis elegans and other organisms. Applications of this reverse-genetics tool, however, are somewhat restricted in nematodes because introduced dsRNA is not stably inherited. Another difficulty is that RNAi disruption of late-acting genes has been generally less consistent than that of embryonically expressed genes, perhaps because the concentration of dsRNA becomes lower as cellular division proceeds or as developmental time advances. In particular, some neuronally expressed genes appear refractory to dsRNA-mediated interference. We sought to extend the applicability of RNAi by in vivo expression of heritable inverted-repeat (IR) genes. We assayed the efficacy of in vivo-driven RNAi in three situations for which heritable, inducible RNAi would be advantageous: (i) production of large numbers of animals deficient for gene activities required for viability or reproduction; (ii) generation of large populations of phenocopy mutants for biochemical analysis; and (iii) effective gene inactivation in the nervous system. We report that heritable IR genes confer potent and specific gene inactivation for each of these applications. We suggest that a similar strategy might be used to test for dsRNA interference effects in higher organisms in which it is feasible to construct transgenic animals, but impossible to directly or transiently introduce high concentrations of dsRNA.     

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we report on DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy. DFNB59 encodes pejvakin, a 352-residue protein. Pejvakin is a paralog of DFNA5, a protein of unknown function also involved in deafness. By immunohistofluorescence, pejvakin is detected in the cell bodies of neurons of the afferent auditory pathway. Furthermore, Dfnb59 knock-in mice, homozygous for the R183W variant identified in one DFNB59 family, show abnormal auditory brainstem responses indicative of neuronal dysfunction along the auditory pathway. Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect.     

珠江流域盆地表层沉积物的黏土矿物及其对南海沉积物的贡献

黏土矿物以其示踪洋流变化和揭示物源区陆地同时期气候变化的能力, 近年来在南海东亚季风演化的研究中起到了重要作用. 珠江作为南海北部陆源物质输入的重要河流之一, 以往的研究还没有开展过详细的黏土矿物学工作. 运用X射线衍射方法, 系统地研究了珠江流域盆地(包括珠江主流、各支流和珠江口伶仃洋)表层沉积物的黏土矿物组合. 结果显示, 珠江流域盆地黏土矿物组合主要由高岭石(35%~65%)、绿泥石(20%~35%)和伊利石(12%~42%)组成, 蒙脱石含量一般小于5%, 区域分布上不具明显的差异性. 但是, 从珠江流域盆地到南海北部, 高岭石含量持续降低, 蒙脱石含量持续上升, 伊利石含量也不断上升, 伊利石化学指数递减, 伊利石结晶度增强, 这些特征都表明珠江流域盆地对南海北部黏土矿物的贡献主要是高岭石, 其次是伊利石和绿泥石, 基本不提供蒙脱石. 研究认为, 珠江对南海北部陆缘的黏土矿物贡献率最多为72%, 而对北部陆坡的贡献率最多仅为15%. 无论是冰期还是间冰期时期, 高岭石都指示了珠江流域的机械侵蚀能力.     

工业烟气脱硫同时制取硫化氢的初步研究

提出一种无废烟气脱硫新方法。用硫化钠溶液洗脱工业烟气中二氧化硫，同时生成硫化氢。后者用Ｃｌａｕｓ反应可制取元素硫。反应过程为三阶段模式。第一阶段发生二氧化硫溶解和硫离子向硫氢根离子转变；第二阶段主要发生硫氢根离子向硫化氢转变同时吸收二氧化硫；第三阶段，溶液逐渐失去脱除ＳＯ２的能力。提高硫化钠初始浓度和反应温度或降低进气中二氧化硫含量，于提高Ｈ２Ｓ转化率有利。进气中二氧化硫分压增大，各阶段周期缩短。     

Late Cretaceous-Cenozoic exhumation history of Tiantangzhai region of Dabieshan Orogen： Constraints from （U-Th）／He and fission track analysis

Integrated fission track and (U-Th)/He analysis is carried out on 6 apatite and 6 zircon samples from a near vertical section in The Tiantangzhai region at the core of the present Dabieshan orogen. The result shows that the region experienced cooling/exhumation during the Late Cretaceousand Early Tertiary period. Age-elevation relationships for different dating systems and different minerals suggest a pulse of rapid exhumation at ～110 Ma before present, preserved in the structurally highest samples. At lower elevations, ages begin to decrease with decreasing elevation, suggesting lower exhumation rates since 90 Ma. Two periods of different exhumation rates are identified since 90 Ma. The average apparent exhumation rate for the period of 43.4—22.5 is 0.062 km/Ma, whereas that for the period of 76.4—47.4 Ma is 0.039 km/Ma.     

关于转基因食品的争论

植物的遗传操作目前在英国产生了极大的轰动效应,可谓是议论纷纷,褒贬不一。超级市场上的新型食品丰富多彩,满足了消费者的需求,感谢现代集约型农业所提供的这一切。但富余也同时带有自身的问题,这不仅是技术变化的加速。物质的丰富,寿命的延长,都对无风险环境提出了要求。和世纪初相比,当今的西方人更讲究健康食品;所以对用新法生产的同种食品,态度冷淡;尤其是对那些被怀疑有风险的食品,即使对健康稍有涉嫌,公众也不愿轻易接受。关于超级杂草fo］题英国医学会和环境保护人员,否定了对草甘脚含有抗性的GM油菜;认为一种特异…     

形变双奇核1944Au中的强耦合带

利用重离子融合蒸发反应159Tb（29Si,4nγ）194Au布居了形变双奇核184Au的高自旋态,用GASP探测器阵列进行了在束γ实验测量．通过对实验数据的深入分析,新发现了一条可归属于184Au核的强耦合转动带．基于对转动带有效K值的分析以及从实验数据中提取出的带内B（M1）／B（E2）值与理论计算值的比较,建议了转动带的准粒子组态和能级的自旋宇称值．