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101.
102.
Shigeaki Nonoyama Mitsunobu Shimadzu Hano Toru Kuniaki Seyama Hiroyuki Nunoi Michael Neubauer Jun-ichi Yata Hans D. Ochs 《Human genetics》1997,99(5):624-627
X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency caused by a defective CD40 ligand. We identified mutations
of the CD40 ligand gene in 13 unrelated Japanese XHIM patients. Of the four patients with missense mutations, one had a mutation
within the transmembrane domain, and the three others had mutations affecting the TNF homology region of the extracellular
domain. Two of the missense mutations resulted in the substitution of amino acids that are highly conserved in TNF family
proteins. Three patients had nonsense mutations, all of which resulted in the truncation of the TNF homology domain of the
CD40 ligand. Three patients had genomic DNA deletions of 2, 3 or 4 nucleotides, respectively. All of the deletions were flanked
by direct repeat sequences, suggesting that these deletions were caused by slipped mispairing. Three patients had mutations
within introns resulting in altered splicing, and multiple splicing products were found in one patient. Thus, each of the
13 Japanese patients had different mutations, 9 of them being novel mutations. These results indicate that mutations in XHIM
are highly heterogeneous, although codon 140 seems to be a hot spot of the CD40 ligand gene since two additional point mutations
were located at Trp 140, bringing the total numbers of mutations affecting codon 140 to six. In one XHIM family with a missense
mutation, prenatal diagnosis was performed by single-strand conformation polymorphism analysis of genomic DNA of a male fetus.
Received: 20 August 1996 相似文献
103.
104.
Shigeaki Takagi Kunio Takeda Keiichi Kameyama Toshio Takagi 《Bioscience, biotechnology, and biochemistry》2013,77(8):2035-2040
Lutein, one of the most common carotenoids, has been believed to be optically inactive in the visible region. Lutein was found, however, to acquire a very strong circular dichroic (CD) activity in this region when dispersed in an aqueous solution in the presence of sodium dodecyl sulfate (SDS). The CD spectrum of lutein had positive and negative extrema before and behind a crossover at about 390 nm, respectively. The signs of the extrema were inverted when the amount of SDS was increased. Further addition of SDS destroyed the CD activity. These phenomena are suggested to reflect a sequence of events, namely; 1) the formation of a helical assembly of the lutein molecules; 2) a wholesale structural change of the assembly resulting in the inversion of its chirality, and 3) the breakdown of the assembly followed by the inclusion of the lutein molecules into SDS micelles. 相似文献
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Rabbits were immunized with dinitrophenyl-coupled Ascaris antigen (DNP-Asc) or ragweed antigen (DNP-Rag) included in aluminum hydroxide gel and their mesenteric lymph node cells were cultured for 24 hr in vitro in the presence of free homologous carrier. The cell-free supernatant thus obtained enhanced both IgG and IgE antihapten antibody responses of DNP-primed cells to DNP-heterologous carrier conjugate (DNP-keyhole limpet hemocyanin). Since the cell-free supernatant obtained from Rag-specific cells enhanced antibody response of hapten-primed cells raised by immunization with DNP-Asc, no carrier specificity was involved in the enhancement. It was found that treatment of primed cells with 10-5 M pactamycin suppressed the formation of the enhancing soluble factor, whereas the factor was readily formed in the presence of 2 mug/mol of cytosine arabinoside in the culture. The results indicated that cell proliferation was not required but de novo synthesis of protein was essential for the formation of soluble factor(s). The enhancing factor was not absorbed by either carrier-coated or anti-carrier antibody-coated immunosorbent. It was also found that the enhancing factor was formed by incubating primed cells with carrier-coated Sepharose. The cell-free supernatant containing no free carrier enhanced both IgG and IgE anti-hapten antibody responses. The activities of the cell-free supernatant to enhance IgG and IgE antibody responses were not absorbed by anti-Fab, anti-gamma-or anti-mu-chain antibody immunosorbent, indicating that the nonspecific enhancing factor did not possess immunoglobulin determinant. The cell-free supernatant was fractionated by sucrose density gradient ultracentrifugation and by gel filtration with three radiolabeled proteins, i.e., IgG, ovalbumin, and cytochrome C as markers. Enhancing activity for IgG antibody response was recovered in a fraction between ovalbumin peak (40,000 m.w.) and cytochrome C peak (20,000 m.w.). The activity for IgE antibody response was recovered in a fraction containing IgG marker (150,000 m.w.). By block electrophoresis, both activities were detected in beta globulin fraction. The results suggested that different T cell factors are involved in the IgG and IgE antibody responses. 相似文献
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109.
On the morphology of antennular sensory and attachment organs in cypris larvae of the deep‐sea vent/seep barnacles,Ashinkailepas and Neoverruca 下载免费PDF全文
Takefumi Yorisue Benny K. K. Chan Ryusuke Kado Hiromi Watanabe Koji Inoue Shigeaki Kojima Jens T. Høeg 《Journal of morphology》2016,277(5):594-602
Barnacle cypris larvae show high morphological variation in the organs used in search of and attaching to a substratum. This variation may represent adaptation to the habitat of the species. Here, we studied SEM level morphologies of cypris antennular sensory and attachment organs in a deep‐sea vent endemic species (Neoverruca sp.) and a vent/seep inhabiting species (Ashinkailepas seepiophila). We compare them with three species from other environments. The antennular morphologies of Neoverruca sp. and A. seepiophila were similar, which is consistent with recent molecular studies showing a close relationship of the two species. The setation pattern of the antennules was very conservative among species from various environments. In contrast, striking differences were observed in the structure of the attachment organ (the third antennular segment). Neoverruca sp. and A. seepiophila had no velum or a skirt surrounding the attachment disc on the third segment, while other cirripede cyprids almost always have either of these structures. In addition, both cyprids of A. seepiophila and Neoverruca sp. had the attachment disc angled toward the substratum, whereas it faces distally in cyprids from hard bottom inhabiting barnacles. We suggest that both velum/skirt and the angle of the attachment disc play an important role, when the antennules are contacting the substratum during surface exploration. Differences in attachment organ structures may be highly adaptive, enabling cirripede species to enter new habitats during evolution. J. Morphol. 277:594–602, 2016. © 2016 Wiley Periodicals, Inc. 相似文献
110.
Makoto Watanabe Yu Kamimaki Marino Mori Shigeaki Okabe Izumi Arakawa Yoshiyuki Kinose Satoshi Nakaba Takeshi Izuta 《Journal of plant research》2018,131(6):907-914
Ozone is an air pollutant that negatively affects photosynthesis in woody plants. Previous studies suggested that ozone-induced reduction in photosynthetic rates is mainly attributable to a decrease of maximum carboxylation rate (Vcmax) and/or maximum electron transport rate (Jmax) estimated from response of net photosynthetic rate (A) to intercellular CO2 concentration (Ci) (A/Ci curve) assuming that mesophyll conductance for CO2 diffusion (gm) is infinite. Although it is known that Ci-based Vcmax and Jmax are potentially influenced by gm, its contribution to ozone responses in Ci-based Vcmax and Jmax is still unclear. In the present study, therefore, we analysed photosynthetic processes including gm in leaves of Siebold’s beech (Fagus crenata) seedlings grown under three levels of ozone (charcoal-filtered air or ozone at 1.0- or 1.5-times ambient concentration) for two growing seasons in 2016–2017. Leaf gas exchange and chlorophyll fluorescence were simultaneously measured in July and September of the second growing season. We determined the A, stomatal conductance to water vapor and gm, and analysed A/Ci curve and A/Cc curve (Cc: chloroplast CO2 concentration). We also determined the Rubisco and chlorophyll contents in leaves. In September, ozone significantly decreased Ci-based Vcmax. At the same time, ozone decreased gm, whereas there was no significant effect of ozone on Cc-based Vcmax or the contents of Rubisco and chlorophyll in leaves. These results suggest that ozone-induced reduction in Ci-based Vcmax is a result of the decrease in gm rather than in carboxylation capacity. The decrease in gm by elevated ozone was offset by an increase in Ci, and Cc did not differ depending on ozone treatment. Since Cc-based Vcmax was also similar, A was not changed by elevated ozone. We conclude that gm is an important factor for reduction in Ci-based Vcmax of Siebold’s beech under elevated ozone. 相似文献