21 research outputs found

    Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys

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    Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT. Moreover, blood transcriptome profiling revealed that mutant monkeys resembled RTT patients in immune gene dysregulation. Taken together, the stark similarity in phenotype and/or endophenotype between monkeys and patients suggested that gene-edited RTT founder monkeys would be of value for disease mechanistic studies as well as development of potential therapeutic interventions for RTT

    Sources, factors, mechanisms and possible solutions to pollutants in marine ecosystems

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    Effects of solar UV radiation on germination of conchospores and morphogenesis of sporelings in Porphyra haitanensis (Rhodophyta)

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    The eVects of ultraviolet radiation (UVR 280–400 nm) on the germination of Porphyra haitanensis conchospores and on the growth and morphogenesis of the subsequent sporelings were investigated by culturing the released conchospores under natural sunlight from 29 September to 6 October 2005. Germination increased with time and was faster when UV-Bwas excluded using cut-oV Wlters. There were signicant negative eVects of UV-B radiation on growth and cell division of sporelings, with decreases up to 18% for thallus length, between 6 and 18% for thallus width, up to 29% for thallus area, and between 6 and 14% for cell size as compared to PAR-controls. UV-A had a signicant positive eVect on morphogenesis, enhancing the formation of sporelings with cells dividing transversely; on the other hand, UV-B delayed the formation of such sporelings. We also tested the eVects of solar UVR on the growth of P. haitanensis juveniles and found no signiWcant eVects. Our results indicate that UV-A has an important role in the germination and morphogenesis of the species, but on the other hand, sporelings of P. haitanensis are more sensitive to UV-B radiation than juveniles.Fil: Jiang, Hongxia. Shantou University; ChinaFil: Gao, Kunshan. Shantou University; ChinaFil: Helbling, Eduardo Walter. Fundación Playa Unión. Estación de Fotobiología Playa Unión; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin

    The conchocelis of porphyra haitanensis (rhodophyta) is protected from harmful UV radiation by the covering calcareous matrix

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    Previous study has shown that Porphyra conchocelis is sensitive to high levels of PAR (400–700 nm) as well as ultraviolet radiation (UVR: 280–400 nm), resulting in high inhibition of photosynthesis. However, little is known about whether the inner covering layer of the shell, in which the conchocelis lives, may provide protection against solar UVR. Our study indicates that the covering calcareous matrix is about 0.06 mm thick, transmitting 63, 47, and 28% of PAR, ultraviolet radiation A (UVA: 315–400 nm), and ultraviolet radiation B (UVB: 280–315 nm), respectively. We used a shading layer that simulated the above transmissions, and the effective quantum yield of PSII and photosynthetic carbon fixation in the conchocelis increased to greater extents in the presence of UVA or UVB. Attenuation of UVA by 19% and UVB by 37% due to the shading layer increased the PSII yield by 44%–77% and photosynthetic carbon fixation by about 60%. Our study clearly shows that the photosynthetic machinery of Porphyra haitanensis T. J. Chang et B. F. Zheng conchocelis was efficiently protected from harmful UVR by the covering calcareous matrix.Fil: Jiang, Hongxia. Changshu Institute Of Technology; China. Xiamen University; ChinaFil: Gao, Kunshan. Xiamen University; ChinaFil: Helbling, Eduardo Walter. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación Playa Unión. Estación de Fotobiología Playa Unión; Argentin

    UV-absorbing compounds in Porphyra haitanensis (Rhodophyta) with special reference to effects of desiccation

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    The intertidal red alga Porphyra haitanensis Chang et Zheng is episodically desiccated and exposed to high levels of solar radiation at low tide during emersion. However, little has been documented on the relationship between the stresses during desiccation and related chemical compounds. We found that P. haitanensis thalli, when desiccated under indoor (artificial radiation) or outdoor (solar radiation) conditions, with or without UV radiation (UVR: 280-400 nm), contained significantly higher concentrations of UV-absorbing compounds (peak at 336 nm) than those maintained submerged (without desiccation). Solar UVR had no effect on the content of UV-absorbing compounds. Even though the concentration of these compounds decreased with time in all treatments, a slower decrease was observed in the desiccated samples. The samples with higher levels of UV-absorbing compounds showed higher photochemical efficiency of photosystem II (PS II) during the exposure or subsequent recovering process than samples with low concentration of UV-absorbing compounds, reflecting their protective role. The concentration of these compounds varied in different parts of the thallus, with the middle and marginal parts containing 60-80% more UV-absorbing compounds than the basal parts in both female and male plants. In addition, the marginal parts of male thalli contained more UV-absorbing compounds than the corresponding parts of female thalli. Our data suggest that desiccation plays a key role in this alga to maintain high concentration of UV-absorbing compounds, and that this might provide a beneficial advantage to compete in the intertidal zone where the organism is normally exposed to high levels of UVR. © 2007 Springer Science+Business Media B.V.Fil: Jiang, Hongxia. Changshu Institute Of Technology; China. Shantou University; ChinaFil: Gao, Kunshan. Shantou University; China. Xiamen University; ChinaFil: Helbling, Eduardo Walter. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación Playa Unión; Argentin

    Seawater carbonate chemistry and specific growth rate, respiration rate, net photosynthetic rate and photochemical parameters of Phaeodactylum tricornutum

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    Experimentally elevated pCO2 and the associated pH drop are known to differentially affect many aspects of the physiology of diatoms under different environmental conditions or in different regions. However, contrasting responses to elevated pCO2 in the dark and light periods of a diel cycle have not been documented. By growing the model diatom Phaeodactylum tricornutum under 3 light levels and 2 different CO2 concentrations, we found that the elevated pCO2/pH drop projected for future ocean acidification reduced the diatom's growth rate by 8–25% during the night period but increased it by up to 9–21% in the light period, resulting in insignificant changes in growth over the diel cycle under the three different light levels. The elevated pCO2 increased the respiration rates irrespective of growth light levels and light or dark periods and enhanced its photosynthetic performance during daytime. With prolonged exposure to complete darkness, simulating the sinking process in the dark zones of the ocean, the growth rates decreased faster under elevated pCO2, along with a faster decline in quantum yield and cell size. Our results suggest that elevated pCO2 enhances the diatom's respiratory energy supplies to cope with acidic stress during the night period but enhances its death rate when the cells sink to dark regions of the oceans below the photic zone, with implications for a possible acidification-induced reduction in vertical transport of organic carbon

    Variability of total alkalinity in coastal surface waters determined using an in-situ analyzer in conjunction with the application of a neural network-based prediction model

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    Total alkalinity (TA) is an important variable of the ocean carbonate system. In coastal oceans, carbonate system dynamics are controlled by a range of processes including photosynthesis and respiration, calcification, mixing of water masses, continental inputs, temperature changes, and seasonal upwelling. Assessments of diel, seasonal and interannual variations in TA are required to understand the carbon cycle in coastal oceans. However, our understanding of these variations remains underdeveloped due to limitations in observational techniques. Autonomous TA measurements are therefore required. In this study, an in situ TA analyzer (ISA-TA) based on a single-point titration with spectrophotometric pH detection was deployed in Tong'an Bay, Xiamen, China, over a five-month period in 2021 to determine diel and seasonal TA variations. The TA observations were combined with an artificial neural network (ANN) model to construct TA prediction models for this area. This provided a simple method to investigate TA variations in this region and was applied to predict surface water TA between March and April 2021. The in situ TA observations showed that TA values in Tong'an Bay varied within a range from 1931 to 2294 μmol kg−1 over the study period, with low TA in late winter, early summer and late summer, and high TA in early winter. The TA variations in late summer and early winter were mainly controlled by mixing of water bodies. The diel variations of TA were greatly determined by tides, with a diel amplitude of 9 to 247 μmol kg−1. The ANN model used temperature, salinity, chlorophyll, and dissolved oxygen to estimate TA, with a root-mean-square error (RMSE) of ∼14 μmol kg−1, with salinity as the input variable with the greatest weight. The approach of combining ISA-TA observations with an ANN model can be extended to study the carbonate system in other coastal regions

    Effects of UV radiation on the photosynthesis of conchocelis of Porphyra haitanensis (Bangiales, Rhodophyta)

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    Previous studies showed that photosynthesis and morphogenesis of Porphyra plants could be affected by solar UV radiation (UVR: 280-400 nm). However, little is known about the sensitivity of their conchocelis stage to UVR. We investigated the photosynthetic performance of P. haitanensis conchocelis under natural and simulated solar radiation with or without UVR and compared its responses among different developmental stages (vegetative and sporangial phases). High solar PAR accounted for most of the reduction of the effective quantum yield of PS II. Presence of UVR further reduced the yield by 53-55% in contrast to PAR alone treatment under solar radiation (UV-A of 33.2 W m(-2) and UV-B of 0.85 W m(-2)) or a xenon lamp (UV-A of 25.5 W m(-2) and UV-B of 1.15 W m(-2)). CO2 fixation was more reduced by UVR in the free-living vegetative (38%) than in the sporangial conchocelis (14%). Photosynthetic tolerance of UVR increased from vegetative to sporangial phase, then to thallus stage, correlating with the increased contents of UV-absorbing compounds and/or differentiated structure

    LAMINARIOCOLAX SP (PHAEOPHYCEAE) ASSOCIATED WITH GALL DEVELOPMENTS IN LESSONIA NIGRESCENS (PHAEOPHYCEAE)1

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    of gall development on this alga, identified the possible causal agent, and assessed the extent of the phenomenon in two wild stands of the host. Our results showed that galls affecting natural populations of L. nigrescens were associated with the infection by a filamentous brown algal endophyte of the genus Laminariocolax. Assignment to Laminariocolax of the endophytes isolated from cultured gall tissue was based on the (i) high internal transcribed spacer 1 (ITS1) sequence similarity and phylogenetic relationship between the Chilean isolates and several species of the genus Laminariocolax endophytic in other kelps, (ii) reproductive and vegetative features of the endophyte in culture, and (iii) anatomical agreement of fully developed galls of Lessonia with those described for other kelp galls caused by endophytic members of Laminariocolax. Unequivocal identification at the species level of the endophytes infecting Lessonia, however, awaits further studies.Ministry of Science and Technology, National Natural Science Foundation of China [90411018]; Science Foundation of Changshu Institute of Technology [KY11707

    Effects of solar UV radiation on germination of conchospores and morphogenesis of sporelings in Porphyra haitanensis (Rhodophyta)

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    The effects of ultraviolet radiation (UVR 280-400 nm) on the germination of Porphyra haitanensis conchospores and on the growth and morphogenesis of the subsequent sporelings were investigated by culturing the released conchospores under natural sunlight from 29 September to 6 October 2005. Germination increased with time and was faster when UV-B was excluded using cut-off filters. There were significant negative effects of UV-B radiation on growth and cell division of sporelings, with decreases up to 18% for thallus length, between 6 and 18% for thallus width, up to 29% for thallus area, and between 6 and 14% for cell size as compared to PAR-controls. UV-A had a significant positive effect on morphogenesis, enhancing the formation of sporelings with cells dividing transversely; on the other hand, UV-B delayed the formation of such sporelings. We also tested the effects of solar UVR on the growth of P. haitanensis juveniles and found no significant effects. Our results indicate that UV-A has an important role in the germination and morphogenesis of the species, but on the other hand, sporelings of P. haitanensis are more sensitive to UV-B radiation than juveniles.The effects of ultraviolet radiation (UVR 280-400 nm) on the germination of Porphyra haitanensis conchospores and on the growth and morphogenesis of the subsequent sporelings were investigated by culturing the released conchospores under natural sunlight from 29 September to 6 October 2005. Germination increased with time and was faster when UV-B was excluded using cut-off filters. There were significant negative effects of UV-B radiation on growth and cell division of sporelings, with decreases up to 18% for thallus length, between 6 and 18% for thallus width, up to 29% for thallus area, and between 6 and 14% for cell size as compared to PAR-controls. UV-A had a significant positive effect on morphogenesis, enhancing the formation of sporelings with cells dividing transversely; on the other hand, UV-B delayed the formation of such sporelings. We also tested the effects of solar UVR on the growth of P. haitanensis juveniles and found no significant effects. Our results indicate that UV-A has an important role in the germination and morphogenesis of the species, but on the other hand, sporelings of P. haitanensis are more sensitive to UV-B radiation than juveniles
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