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21.
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.  相似文献   
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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.  相似文献   
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A color based system using multiple templates was developed and implemented for detecting human faces in color images. The algorithm consists of three image processing steps. The first step is human skin color statistics. Then it separates skin regions from non-skin regions. After that, it locates the frontal human face(s) within the skin regions. In the first step, 250 skin samples from persons of different ethnicities are used to determine the color distribution of human skin in chromatic color space in order to get a chroma chart showing likelihoods of skin colors. This chroma chart is used to generate, from the original color image, a gray scale image whose gray value at a pixel shows its likelihood of representing the skin. The algorithm uses an adaptive thresholding process to achieve the optimal threshold value for dividing the gray scale image into separate skin regions from non skin regions. Finally, multiple face templates matching is used to determine if a given skin region represents a frontal human face or not. Test of the system with more than 400 color images showed that the resulting detection rate was 83%, which is better than most color-based face detection systems. The average speed for face detection is 0.8 second/image (400 x 300 pixels) on a Pentium 3 (800MHz) PC.  相似文献   
26.
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.  相似文献   
27.
To date, the cost-effective utilization of solar energy by photovoltaics for large-scale deployment remains challenging. Further cost minimization and efficiency maximization, through reduction of material consumption, simplification of device fabrication as well as optimization of device structure and geometry, are required. The usage of 1D nanomaterials is attractive due to the outstanding light coupling effect, the ease of fabrication, and integration with one-dimensional(1-D) semiconductor materials. The light absorption efficiency can be enhanced significantly, and the corresponding light-toelectricity conversion efficiency can be as high as their bulk counterparts. Also, the amount of active materials used can be reduced. This review summarizes the recent development of 1-D nanomaterials for photovoltaic applications, including the anti-reflection, the light absorption,the minority diffusion, and the semiconductor junction properties. With solid progress and prospect shown in the past 10 years, 1-D semiconductor nanomaterials are attractive and promising for the realization of high-efficiency and low-cost solar cells.  相似文献   
28.
A microRNA component of the p53 tumour suppressor network   总被引:5,自引:0,他引:5  
  相似文献   
29.
Fingerprints of global warming on wild animals and plants   总被引:102,自引:0,他引:102  
Over the past 100 years, the global average temperature has increased by approximately 0.6 degrees C and is projected to continue to rise at a rapid rate. Although species have responded to climatic changes throughout their evolutionary history, a primary concern for wild species and their ecosystems is this rapid rate of change. We gathered information on species and global warming from 143 studies for our meta-analyses. These analyses reveal a consistent temperature-related shift, or 'fingerprint', in species ranging from molluscs to mammals and from grasses to trees. Indeed, more than 80% of the species that show changes are shifting in the direction expected on the basis of known physiological constraints of species. Consequently, the balance of evidence from these studies strongly suggests that a significant impact of global warming is already discernible in animal and plant populations. The synergism of rapid temperature rise and other stresses, in particular habitat destruction, could easily disrupt the connectedness among species and lead to a reformulation of species communities, reflecting differential changes in species, and to numerous extirpations and possibly extinctions.  相似文献   
30.
Temporal precision in the neural code and the timescales of natural vision   总被引:1,自引:0,他引:1  
Butts DA  Weng C  Jin J  Yeh CI  Lesica NA  Alonso JM  Stanley GB 《Nature》2007,449(7158):92-95
The timing of action potentials relative to sensory stimuli can be precise down to milliseconds in the visual system, even though the relevant timescales of natural vision are much slower. The existence of such precision contributes to a fundamental debate over the basis of the neural code and, specifically, what timescales are important for neural computation. Using recordings in the lateral geniculate nucleus, here we demonstrate that the relevant timescale of neuronal spike trains depends on the frequency content of the visual stimulus, and that 'relative', not absolute, precision is maintained both during spatially uniform white-noise visual stimuli and naturalistic movies. Using information-theoretic techniques, we demonstrate a clear role of relative precision, and show that the experimentally observed temporal structure in the neuronal response is necessary to represent accurately the more slowly changing visual world. By establishing a functional role of precision, we link visual neuron function on slow timescales to temporal structure in the response at faster timescales, and uncover a straightforward purpose of fine-timescale features of neuronal spike trains.  相似文献   
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