复杂易位遗传效应的探讨—附一例罕见复杂易位核型

本报道一例罕见复杂易位核型：46,XX,t(1;14;10)。并到往资料,探讨和分析复杂易位和一般平衡易位对表型及生育的遗传效应。结果显示,一般易位导致智能低下和多发畸形的频率各为3.57%,复杂易位所致智能低下频率为21.73%, 多发畸形的频率为17.39%。提示复杂2易位所致智能低下和畸形频率明显高于一般易位。     

Preprotein Import into Chloroplasts via the Toc and Tic Complexes Is Regulated by Redox Signals in Pisum sativum

The import of nuclear-encoded preproteins is necessary to maintain chloroplast function. The recognition and transfer of most precursor proteins across the chloroplast envelopes are facilitated by two membrane-inserted protein complexes, the translocons of the chloroplast outer and inner envelope （Toc and Tic complexes, respectively）. Several signals have been invoked to regulate the import of preproteins. In our study, we were interested in redox-based import regulation mediated by two signals： regulation based on thiols and on the metabolic NADP＋/NADPH ratio. We sought to identify the proteins participating in the regulation of these transport pathways and to characterize the preprotein subgroups whose import is redox-dependent. Our results provide evidence that the formation and reduction of disulfide bridges in the Toc receptors and Toc translocation channel have a strong influence on import yield of all tested preproteins that depend on the Toc complex for translocation. Furthermore, the metabolic NADP＋/NADPH ratio influences not only the composition of the Tic complex, but also the import efficiency of most, but not all, preproteins tested. Thus, several Tic subcomplexes appear to participate in the translocation of different preprotein subgroups, and the redox-active compo- nents of these complexes likely play a role in regulating transport.     

Translocation of Otostegia bucharica,a highly threatened narrowly distributed relict shrub

Translocation is a recognized means of rescuing imperiled species but the evidence for the long-term success of translocations is limited. We report the successful translocation of reproductive individuals of a critically endangered shrub Otostegia bucharica from a site facing imminent habitat destruction into a nearby natural population of the species. The relocated plants were visited the year after planting and 13 years later to assess short-and long-term plant survival. Significant percentage of plants that survived transplanting shock and very dry spring following transplanting(around 36%), and further decrease of this number in the next 12 years by only 14%, indicated that O. bucharica is amenable to translocation using reproductive plants. Based on results of species distribution modeling, and failed attempts of ex situ cultivation, we propose introduction of this species into areas with suitable climatic and soil conditions.However, because there is currently no nature reserve in Uzbekistan having suitable conditions for the species under the present climate and that expected in the near future, and because all known habitats of O. bucharica are exposed to the very strong anthropogenic pressure, establishment of a new protected area, awareness building and involvement of local community in conservation activities are required to prevent extinction of this extremely rare species.     

Compensatory foraging in Trinidadian guppies： Effects of acute and chronic predation threats

In response to acute predation threats, prey may sacrifice foraging opportunities in favour of increased predator avoidance. Under conditions of high or frequent predation risk, such tradeoffs may lead to reduced fitness. Here, we test the pre diction that prey reduce the costs associated with lost opportunities following acute predation threats by exhibiting shortterm compensatory foraging responses. Under seminatural conditions, we exposed female guppies Poecilia reticulate from high and low predation risk sites to one of three levels of acute predation threat （high, intermediate or low concentrations of conspecific alarm cues）. Our results confirm previous reports, demonstrating that guppies from a high predation site were consistently ＇bolder＇ （shorter escape latencies） and exhibited graded threatsensitive responses to different simulated threat levels while those from the low predation site were ＇shyer＇ and exhibited nongraded responses. Most importantly, we found that when guppies from low predation sites resumed foraging, they did so at rates significantly lower than baseline rates. However, guppies from high preda tion sites resumed foraging either at rates equal to baseline （in response to low or intemaediate risk stimuli） or significantly in creased relative to baseline rates （in response to high risk stimuli）. Together, these results highlight a complex compensatory be havioral mechanism that may allow prey to reduce the longterm costs associated with predator avoidance [Current Zoology 60 （3）： 323-332, 2014 ].     

A genome-wide survey of alternative translational initiation events in Homo sapiens

Alternative translational initiation is an important mechanism to increase the diversity of gene products. Although some of alternative translational initiation events have been reported, such information remains anecdotal and does not allow for any generalizations. The number of the known alternative translational initiation genes is so few that we know little about its mechanism. There is a great demand to discover more alternative translational initiation genes. However, it is arduously time-consuming to discover novel alternative translational initiation genes by the experimental method. Therefore we systematically analyzed protein sequences available in public database and predicted 1237 protein clusters as potential alternative translational initiation events. We concluded that about 8%—10% of human genes have alternative translational initiation sites. The results significantly increased the number of alternative translation initiation events and indicated that alternative translation initiation is an important and general regulation mechanism in the cellular process.     

Induction and transmission of wheat-Haynaldia villosa chromosomal translocations

In order to develop more wheat-Haynaldia villosa translocations involving different chromosomes and chromosome segments of H. villosa, T. durum-H, villosa amphiploid was irradiated with ^60Co γ-rays at doses of 800, 1,200, and 1,600 rad. Pollen collected from the spikes 1, 2, and 3 days after irradiation were transferred to emasculated spikes of the common wheat cv. ‘Chinese Spring＇. Genomic in situ hybridization was used to identify wheat-H, villosa chromosome translocations in the M1 generation. Transmission of the identified translocation chromosomes was analyzed in the BC1, BC2, and BC3 generations. The results indicated that all three irradiation doses were highly efficient for inducing wheat-alien translocations without affecting the viability of the M1 seeds. Within the range of 800-1,600 rad, both the efficiency of translocation induction and the frequency of interstitial chromosome breakage-fusion increased as the irradiation dosage increased. A higher translocation induction frequency was observed using pollen collected from the spikes 1 day after irradiation over that of 2 or 3 days after irradiation. More than 70% of the translocations detected in the M1 generation were transmitted to the BC1 through the female gametes. All translocations recovered in the BC1 generation were recovered in the following BC2, and BC3 generations. The transmission ability of different translocation types in different genetic backgrounds showed an order of ‘whole-arm translocation 〉 small alien segment translocation 〉 large alien segment translocation＇, through either male or female gametes, In general, the transmission ability through the female gametes was higher than that through the male gametes. By this approach, 14 translocation lines that involved different H. villosa chromosomes have been identified in the BC3 using EST-STS markers, and eight of them were homozygous.     

栽培稻×大颖野生稻F~2 多倍现象的细胞遗传学研究

A栽培稻(Oryza sativa)×大颖野生稻(Oryza grandiglumis)F2经细胞学鉴定为2n=4x=48, 即已由杂种F1的ACD异源三倍体变成了异源四倍体。研究了从粗线期到末期Ⅱ的染色体行为,结果表明,F2的染色体构型为异源节段异段类型,且异常染色体频率极高,合计为87.13%。各类异常染色体频率变化按比例大小依次为: 单价体,染色体拖曳,落后染色体,多价体,邻接型易位,不均等分离,桥,不分离和松散配对等。邻接型易位是本研究的中心论题。因邻接型易位的存在是F2花粉不育的一个重要原因, 也是产生节段异段染色体构型的重要原因;因邻接型易位带来相互易位,可供育种利用。 Abstract:The chromosome number in F2 of O.sativa×O.grandiglumis were 2n=4x=48.This showed that the allotriploid of hybrid F1 had been changed into allotetraploid in F2.The chromosome constitution of this allotetraploid remained to be determined.The chromosome behavior was studied during meiosis from pachytene to telophase II.Results showed that the chromosome configuration of F2 belonged to the type of the nodal section-allosection,and possessed very high rate of anomalous chromosome,the total rate of anomalous chromosome accounting for 87.13%.The frequency of anomalous chromosome were ranked as follows:univalent,chromosome straggling,lagging chromosome,polyvalent,adjoin translocation,unequal division,chromosome bridge,non-disjunction and loose pairing in descent order.The adjoin translocation was the topic in this study.With this translocation,no vitality gamentes were produced in F2.However,this is a mutual translocation,hence that is very useful for breeding.     

Nuclear proteome profile of C57BL/6J mouse liver

The liver proteome can serve as a reference to better understand both disease mechanisms and possible therapeutics,since the liver is an important organ in the body that performs a large number of tasks.Here we identify the organelle proteome of C57BL/6J mouse liver nuclei as a promising strategy to enrich low abundance proteins,in the sense that analysis of whole liver cells is rather complex for current techniques and may not be suitable for proteins with low abundance.Evaluation of nucleus integrity and purity was performed to demonstrate the effectiveness of the optimized isolation procedure.The extracted nuclear proteins were identified by 2-DE MS analyses,and a total of 748 proteins were identified.Bioinformatic analyses were performed to demonstrate the physicochemical properties,cellular locations and functions of the proteins.     

Downregulation of wild-type p53 protein by HER-2／neu mediated PI3K pathway activation in human breast cancer cells： its effect on cell proliferation and implication for therapy

Overexpression and activation of HER-2/neu (also known as c-erbB-2), a proto-oncogene, was found in about 30% of human breast cancers, promoting cancer growth and making cancer cells resistant to chemo- and radio-therapy.Wild-type p53 is crucial in regulating cell growth and apoptosis and is found to be mutated or deleted in 60-70% of human cancers. And some cancers with a wild-type p53 do not have normal p53 function, suggesting that it is implicated in a complex process regulated by many factors. In the present study, we showed that the overexpression of HER-2/neu could decrease the amount of wild-type p53 protein via activating PI3K pathway, as well as inducing MDM2 nuclear translocation in MCF7 human breast cancer cells. Blockage of PI3K pathway with its specific inhibitor LY294002 caused G1-S phase arrest, decreased cell growth rate and increased chemo- and radio-therapeutic sensitivity in MCF7 cells expressing wild-type p53. However, it did not increase the sensitivity to adriamycin in MDA-MB-453 breast cancer cells containing mutant p53. Our study indicates that blocking PI3K pathway activation mediated by HER-2/neu overexpression may be useful in the treatment of breast tumors with HER-2/neu overexpression and wild-type p53.     

Control of PHERES1 Imprinting in Arabidopsis by Direct Tandem Repeats

Genomic imprinting is an epigenetic phenomenon that causes monoallelic expression of specific genes dependent on the parent-of-origin. Imprinting of the Arabidopsis gene PHERES1 requires the function of the FERTILIZATION INDEPENDENT SEED （FIS） Polycomb group complex as well as a distally located methylated region containing a tandem triple repeat sequence. In this study, we investigated the regulation of the close PHERES1 homolog PHERES2. We found that PHERES2 is also a direct target gene of the FIS Polycomb group complex, but, in contrast to PHERES1, PHERES2 is equally expressed from maternal and paternal alleles. Thus, PHERES2 is not regulated by genomic imprinting, correlating with the lack of tandem repeats at PHERES2. Eliminating tandem repeats from the PHERES1 locus abolishes PHERES1 imprinting, demonstrating that tandem repeats are essential forPHERES1 imprinting. Taking these results together, our study shows that the recently duplicated genes PHERES1 and PHERES2 are both target genes of the FIS Polycomb group complex but only PHERES1 is regulated by genomic imprinting, which is likely caused by the presence of repeat sequences in the proximity of the PHERES1 locus.     

Investigation of the mechanism of temperature sensitivity of the electroreceptors of ampullae of lorenzini

In experiments on Black Sea skates (Raja clavata), the potential of the receptor epithelium of the ampullae of Lorenzini and spike activity of single nerve fibers connected to them were investigated during electrical and temperature stimulation. Usually the potential within the canal was between 0 and –2 mV, and the input resistance of the ampulla 250–400 k. Heating of the region of the receptor epithelium was accompanied by a negative wave of potential, an increase in input resistance, and inhibition of spike activity. With worsening of the animal's condition the transepithelial potential became positive (up to +10 mV) but the input resistance of the ampulla during stimulation with a positive current was nonlinear in some cases: a regenerative spike of positive polarity appeared in the channel. During heating, the spike response was sometimes reversed in sign. It is suggested that fluctuations of the transepithelial potential and spike responses to temperature stimulation reflect changes in the potential difference on the basal membrane of the receptor cells, which is described by a relationship of the Nernst's or Goldman's equation type.I. P. Pavlov Institute of Physiology, Academy of Sciences of the USSR, Leningrad. I. M. Sechenov, Institute of Evolutionary Physiology and Biochemistry, Academy of Sciences of the USSR, Leningrad. Pacific Institute of Oceanology, Far Eastern Scientific Center, Academy of Sciences of the USSR, Vladivostok. Translated from Neirofiziologiya, Vol. 12, No. 1, pp. 67–74, January–February, 1980.     

Principles of organization and evolution of systems of regulation of functions

Evolution of living organisms is closely connected with evolution of structure of the system of regulations and its mechanisms. The functional ground of regulations is chemical signalization. As early as in unicellular organisms there is a set of signal mechanisms providing their life activity and orientation in space and time. Subsequent evolution of ways of chemical signalization followed the way of development of delivery pathways of chemical signal and development of mechanisms of its regulation. The mechanism of chemical regulation of the signal interaction is discussed by the example of the specialized system of transduction of signal from neuron to neuron, of effect of hormone on the epithelial cell and modulation of this effect. These mechanisms are considered as the most important ways of the fine and precise adaptation of chemical signalization underlying functioning of physiological systems and organs of the living organism