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1.
We describe a 26-year-old patient with 17-ketoreductase deficiency who was raised as a male from 8 months and whose left testis was brought down at the age of 2.5 years and the right testis at the age of 4. Despite the early orchidopexy and not significantly decreased serum testosterone, he was sterile, and biopsy of the testes at the age of 26 revealed absence of spermatogenesis. This case indicates that the absence of spermatogonia in previously reported patients whose testes remained undescended until a later age could not be attributed solely to cryptorchidism. We suggest that decreased intratesticular testosterone due to steroidogenic defect in the developing testis mainly contributes to the arrest of spermatogenesis.  相似文献   
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A mutation assay in cultured mammalian cells based on the direct analysis of minisatellite DNA was developed. Band pattern variations reflect DNA alterations ranging from single base changes to complex rearrangements. By DNA fingerprinting a large number of autosomal loci throughout the human genome can be simultaneously checked, therefore minimizing the size of the samples of cell colonies to be scored in the absence of phenotypic selection. For the mutation assay chinese hamster cells (V79) were treated with Nitrosoguanidine and 14 independent colonies were isolated and expanded. DNA fingerprints were obtained after digestion of the DNA extracted from each clone with bothHinfI andHae III, and hybridisation with both 33.15 and 33.6 probes. Twelve colonies from untreated cells were also analysed. Several differences in the band pattern of treated colonies were observed when compared with untreated cells; digestion withHae III and hybridisation with 33.15 probe allowed the detection of the highest frequency of induced variants. The results suggest that minisatellite sequences are hypermutable sites that can be used to monitor the mutagenic potential of chemical agents directly at the DNA level, without phenotypic selection. Moreover, with the method herein decribed, it is possible to distinguish between true mutations and epimutations, such as those caused by changes in DNA methylation.  相似文献   
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Since birds use the earth's magnetic field for compass orientation when astronomical cues are lacking and it has recently been suggested that the pineal body is part of their magnetic compass, test releases have been performed in overcast conditions with pigeons deprived of the pineal body. On the whole, both experimental and control birds were capable of homeward orientation, though the bearings of experimental were rather more scattered. No differences in homing speed or success were recorded. Thus, the pineal body does not appear to play an important role in the homing of pigeons.  相似文献   
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Searching for nestedness has become a popular exercise in community ecology. Significance of a nestedness index is usually evaluated using z values, and finding that a matrix is nested is typically a common result. However, nestedness is not likely to be spread uniformly within a matrix of species presence/absence per site. Selected parts of the matrix may show a degree of nestedness significantly higher (or lower) than expected from the overall pattern. Here we describe a procedure to assess if a particular submatrix (i.e., a peculiar combination of rows and columns extracted from the complete matrix) is more or less nested than expected for an assortment of sites and species taken at random from the same overall matrix. The idea is to obtain several submatrices of different sizes from the same overall matrix and to calculate their z values. A regression is then performed between z values of submatrices and their sizes. A nestedness index independent of matrix size is suggested as the deviation of the z value of a particular submatrix from that expected according to the regression line. We applied our protocol to 55 matrices with different nestedness indices under various null-models and, for purpose of demonstration, we discussed in detail a single case study regarding various animal groups of the Aegean Islands (Greece). The obtained results strongly encourage further research to focus not only on the question whether a matrix is nested or not, but also on where and why nestedness is confined.  相似文献   
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The most pervasive macroecological patterns concern (1) the frequency distribution of range size, (2) the relationship between range size and species abundance and (3) the effect of body size on range size. We investigated these patterns at a regional scale using the tenebrionid beetles of Latium (Central Italy). For this, we calculated geographical range size (no. of 10‐km square cells), ecological tolerance (no. of phytoclimatic units) and abundance (no. of sampled individuals) using a large database containing 3561 georeferenced records for 84 native species. For each species, we also calculated body mass and its ‘phylogenetic diversity’ on the basis of cladistic relationships. Frequency distribution of range size followed a log‐normal distribution as found in many other animal groups. However, a log‐normal distribution accommodated well the frequency distribution of ecological tolerance, a so far unexplored issue. Range size was correlated with abundance and ecological tolerance, thus supporting the hypothesis that a positive correlation between distribution and abundance is a reflection of interspecific differences in ecological specialization. Larger species tended to have larger ranges and broader ecological tolerance. However, contrary to what known in most vertebrates, not only small‐sized, but also many medium‐to‐large‐sized species exhibited great variability in their range size, probably because tenebrionids are not so strictly influenced by body size constraints (e.g. home ranges) as vertebrates. Moreover, in contrast to other animals, tenebrionid body size does not influence species abundances, probably because these detritivorous animals are not strongly regulated by competition. Finally, contrary to the assumption that rare species should be mainly found among lineages that split from basal nodes, rarity of a tenebrionid species was not influenced by the phylogenetic position of its tribe. However, lineages that split from more basal nodes had lower variability in terms of species geographical distribution, ecological tolerance and abundance, which suggests that lineages that split from more basal nodes are not only morphologically conservative but also tend to have an ecological ‘inertia’.  相似文献   
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Planta - Cold-acclimation genes in woody dicots without winter-dormancy, e.g., olive-tree, need investigation. Positive relationships between OeFAD8, OeOSM , and OeLIP19 and olive-tree...  相似文献   
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The social parasitic beetle Puussus favieri(Coleoptera,Carabidae,Paussini)performs different types of stridulations,which sclectively mimic those emitted by dif-ferent ant castes of its host Pheidole pallidula(Hymenoptera,Formicidae,Myrmicinae).However,the significance of this acoustical mimicry for the success of the parasitic strat-egy and the behaviors elicited in the host ants by stridulations was unknown.We reared Paussus favieri in Pheidole pallidula colonies and filmed their interacting behaviors.We analyzed in slow motion the behavior of ants near a stridulating beetle.We analyzed sep-arately trains of pulse(Pa+Pb,produced by repeated rubbings)and single pulse(Pc,produced by a single rubbing)of stridulations,clearly recognizable from the shaking up and down of the beetle hind legs.and associated them with differcent ant responscs.The full repertoire of sounds produced by P:favieri elicited benevolent responses both in workers and soldiers.We found that different signals elicit different(sometimes multiplc)bchaviors in ants,with different frequency in the two ant castes.However,Pc(alone or in conjunction with other types of pulses)appears to be the type of acoustic signal mostly responsible for all recorded behaviors.These results indicate that the acoustic channel plays a pivotal role in the host-parasite interaction.Finding that a parasite uses the acoustical channel so intensively,and in such a complicated way to trigger ant bchaviors,indicates that acoustic signals may be more important in ant societies than commonly recognized.  相似文献   
9.
ERK signaling is required for eye-specific retino-geniculate segregation   总被引:1,自引:0,他引:1  
In the mammalian visual system, retinal ganglion cell (RGC) projections from each eye, initially intermixed within the dorsal-lateral geniculate nucleus (dLGN), become segregated during the early stages of development, occupying distinct eye-specific layers. Electrical activity has been suggested to play a role in this process; however, the cellular mechanisms underlying eye-specific segregation are not yet defined. It is known that electrical activity is among the strongest activators of the extracellular signal-regulated kinase (ERK) pathway. Moreover, the ERK pathway is involved in the plasticity of neural connections during development. We examine the role of ERK in the segregation of retinal afferents into eye-specific layers in the dLGN. The activation of this signaling cascade was selectively blocked along the retino-thalamic circuitry by specific inhibitors, and the distribution of RGC fibers in the dLGN was studied. Our results demonstrate that the blockade of ERK signaling prevents eye-specific segregation in the dLGN, providing evidence that ERK pathway is required for the proper development of retino-geniculate connections. Of particular interest is the finding that ERK mediates this process both at the retinal and geniculate level.  相似文献   
10.
The possible contribution of NKT cells to resistance to Mycobacterium tuberculosis infection remains unclear. In this paper we characterized the Valpha14 NKT cell population following infection with Mycobacterium bovis bacillus Calmette-Guérin (BCG). BCG infection determined an early expansion of Valpha14 NKT cells in liver, lungs, and spleen, which peaked on day 8 and was sustained until day 30. However, an NK1.1(+) Valpha14 NKT population preferentially producing IFN-gamma predominated at an early stage (day 8), which was substituted by an NK1.1(-) population preferentially producing IL-4 at later stages (day 30). Despite the fact that Valpha14 NKT cell-deficient mice eliminated BCG as did control mice, they had significantly higher numbers of granulomas in liver and lungs. Additionally, while control mice developed organized small granulomas, those in Valpha14 NKT-deficient mice had signs of caseation, large cellular infiltrates, and some multinucleated macrophages, suggesting that Valpha14 NKT cells may actually work as anti-inflammatory cells by limiting excessive lymphocyte influx and tissue pathology. In agreement, we found an increased spontaneous production and mRNA expression of TNF-alpha in liver and lungs of Valpha14 NKT-deficient mice, whose neutralization in vivo by anti-TNF-alpha mAbs consistently reduced the number of granulomas in liver and lungs. Together, our results support a regulatory role for Valpha14 NKT cells in the course of BCG infection through their ability to limit the extent of inflammatory response and point to an important role for this cell subset as a regulator of the balance between protective responses and immunopathology.  相似文献   
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