Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome     

Miyake N  Chilton J  Psatha M  Cheng L  Andrews C  Chan WM  Law K  Crosier M  Lindsay S  Cheung M  Allen J  Gutowski NJ  Ellard S  Young E  Iannaccone A  Appukuttan B  Stout JT  Christiansen S  Ciccarelli ML  Baldi A  Campioni M  Zenteno JC  Davenport D  Mariani LE  Sahin M  Guthrie S  Engle EC 《Science (New York, N.Y.)》2008,321(5890):839-843

Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. We found that these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity in vitro. Several of the mutations appeared to enhance alpha2-chimaerin translocation to the cell membrane or enhance its ability to self-associate. Expression of mutant alpha2-chimaerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding.  相似文献   

Chondrulelike objects in short-period comet 81P/Wild 2   总被引：1，自引：0，他引：1  

Nakamura T  Noguchi T  Tsuchiyama A  Ushikubo T  Kita NT  Valley JW  Zolensky ME  Kakazu Y  Sakamoto K  Mashio E  Uesugi K  Nakano T 《Science (New York, N.Y.)》2008,321(5896):1664-1667

The Stardust spacecraft returned cometary samples that contain crystalline material, but the origin of the material is not yet well understood. We found four crystalline particles from comet 81P/Wild 2 that were apparently formed by flash-melting at a high temperature and are texturally, mineralogically, and compositionally similar to chondrules. Chondrules are submillimeter particles that dominate chondrites and are believed to have formed in the inner solar nebula. The comet particles show oxygen isotope compositions similar to chondrules in carbonaceous chondrites that compose the middle-to-outer asteroid belt. The presence of the chondrulelike objects in the comet suggests that chondrules have been transported out to the cold outer solar nebula and spread widely over the early solar system.  相似文献   

Influence of SHIP on the NK repertoire and allogeneic bone marrow transplantation     

Wang JW  Howson JM  Ghansah T  Desponts C  Ninos JM  May SL  Nguyen KH  Toyama-Sorimachi N  Kerr WG 《Science (New York, N.Y.)》2002,295(5562):2094-2097

Natural killer cell (NK) receptors for major histocompatibility complex (MHC) class I influence engraftment and graft-versus-tumor effects after allogeneic bone marrow transplantation. We find that SH2-containing inositol phosphatase (SHIP) influences the repertoire of NK receptors. In adult SHIP-/- mice, the NK compartment is dominated by cells that express two inhibitory receptors capable of binding either self or allogeneic MHC ligands. This promiscuous repertoire has significant functional consequences, because SHIP-/- mice fail to reject fully mismatched allogeneic marrow grafts and show enhanced survival after such transplants. Thus, SHIP plays an important role in two processes that limit the success of allogeneic marrow transplantation: graft rejection and graft-versus-host disease.  相似文献   

Occurrence and characterization of tomato spotted wilt orthotospovirus isolated from cucumber     

Kon  Tatsuya  Watanabe  Noriko  Ootake  Hironori  Fuji  Shin-ichi 《European journal of plant pathology / European Foundation for Plant Pathology》2022,163(4):789-797

European Journal of Plant Pathology - Diseases associated with tomato spotted wilt orthotospovirus (TSWV) are a serious threat to vegetable production worldwide. In 2019, leaf necrosis disease was...  相似文献   

Evaporative light-scattering analysis of sulforaphane in broccoli samples: Quality of broccoli products regarding sulforaphane contents     

Nakagawa K  Umeda T  Higuchi O  Tsuzuki T  Suzuki T  Miyazawa T 《Journal of agricultural and food chemistry》2006,54(7):2479-2483

Broccoli sulforaphane has received attention as a possible anticarcinogen. Sulforaphane analysis is difficult due to the lack of a chromophore for spectrometric detection. Hence, we developed a method for determining sulforaphane by using high-performance liquid chromatography (HPLC) coupled with an evaporative light-scattering detector (ELSD). Sulforaphane was extracted from acid-hydrolyzed broccoli samples, followed by solid-phase extraction and reversed-phase HPLC. Sulforaphane was detected by ELSD and concurrently identified by electrospray ionization time-of-flight mass spectrometry. The recovery of sulforaphane from broccoli samples was above 95%. The detection limit was 0.5 mug. The present method was sensitive enough to determine sulforaphane in mature broccoli, broccoli sprouts, and commercial broccoli products. Sulforaphane concentration in broccoli sprout (1153 mg/100 g dry weight) was about 10 times higher than that of mature broccoli (44-171 mg/100 g dry weight). Therefore, the broccoli sprout is recommended as a source of sulforaphane-rich products. In contrast, we found that sulforaphane could not be detected in most of broccoli products, suggesting present commercial broccoli products having low quality.  相似文献   

Arsenic immobilization in anaerobic soils by the application of by-product iron materials obtained from the casting industry     

Aomi Suda  Noriko Yamaguchi  Hayato Taniguchi  Tomoyuki Makino 《Soil Science and Plant Nutrition》2018,64(2):210-217

ABSTRACT

Reducing the arsenic (As) concentration in rice grains is of great interest from a human health perspective. Iron (Fe) materials immobilize As in soils, thereby effectively reducing the As concentration in rice grains. We investigated the effect of by-product Fe materials obtained from the casting industry on the As mobility in two soils (soil A and soil B) by a long-term (approximately 100 days) flooded soil incubation experiment. The examined Fe materials were spent steel shot (SSS), fine spent casting sand (SCS) containing steel shot, and two kinds of residual Fe materials (RIMs) from steel shot production. Commercial Fe materials used to immobilize As (zero-valent Fe and ferrihydrite) were tested for comparison. The dissolved As in soil solution of controls for soil A and soil B reached approximately 100 and 800 μg L^?1, respectively. The effect on As immobilization of all the by-product Fe materials increased with time and was comparable to or greater than that of commercial ferrihydrite, except for SCS. The additions of SSS and RIMs decreased by more than 90% of the dissolved As in soil A and decreased by more than 50% in soil B after 100 days incubation. Overall, the effect of the by-product Fe materials on the solubility of silicon and phosphorus was much less than that of the commercial Fe materials. Considering the cost advantage over commercial Fe materials, the Fe materials obtained from the casting industry as by-products are promising amendments for the immobilization of As in paddy soils.  相似文献   

Serum lipid peroxide and alpha-tocopherol concentrations and superoxide dismutase activity in captive bottle-nosed dolphins.     

M Kasamatsu  M Tsunokawa  M Taki  H Higuchi  H Nagahata 《American journal of veterinary research》2001,62(12):1952-1956

OBJECTIVE: To evaluate serum lipid peroxide (LPO) and alpha-tocopherol concentrations and superoxide dismutase (SOD) activity in captive bottle-nosed dolphins and to evaluate effects of storage on production of LPO in various marine fish. ANIMALS: 16 bottle-nosed dolphins. PROCEDURE: 8 dolphins (group A) were fed chub mackerel and herring (high fat) and arabesque greenling and banded blue-sprat (low fat); the other 8 dolphins (group B) were fed chub mackerel and Pacific saury (high fat) and shishamo smelt and Japanese horse mackerel (low fat). Each group had been on these respective diets for 3 years. Serum LPO and alpha-tocopherol concentrations, serum SOD activity, and superoxide production by neutrophils were measured. All types of marine fish were frozen at -20 C for 6 months, and concentrations of LPO were measured at various time points. RESULTS: Serum LPO concentrations in group-A dolphins were significantly higher than those in group B. Serum alpha-tocopherol concentrations and SOD activity in group A were significantly lower than those in group B. A significant negative correlation was found between serum LPO and alpha-tocopherol concentrations in all 16 dolphins. The LPO concentrations in mackerel and herring fed to group-A dolphins were higher than those of other fish. Concentrations of LPO in herring stored for 3 and 6 months at -20 C were higher than those in herring before freezing and in herring stored for 1 month. CONCLUSIONS AND CLINICAL RELEVANCE: Serum LPO and alpha-tocopherol concentrations in captive bottle-nosed dolphins may be strongly influenced by high amounts of polyunsaturated fatty acid and LPO found in marine fatty fishes. High concentrations of serum LPO, as found in group-A dolphins, were associated with decreased antioxidative states. Monitoring of serum LPO and alpha-tocopherol concentrations and serum SOD activity may be useful for the management of captive marine mammals.  相似文献