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1.
2.
Kei Watanabe Kenta Wada Tomoko Ohashi Saki Okubo Kensuke Takekuma Ryoichi Hashizume Jun-Ichi Hayashi Tadao Serikawa Takashi Kuramoto Yoshiaki Kikkawa 《PloS one》2012,7(11)
We discovered a new cataract mutation, kfrs4, in the Kyoto Fancy Rat Stock (KFRS) background. Within 1 month of birth, all kfrs4/kfrs4 homozygotes developed cataracts, with severe opacity in the nuclei of the lens. In contrast, no opacity was observed in the kfrs4/+ heterozygotes. We continued to observe these rats until they reached 1 year of age and found that cataractogenesis did not occur in kfrs4/+ rats. To define the histological defects in the lenses of kfrs4 rats, sections of the eyes of these rats were prepared. Although the lenses of kfrs4/kfrs4 homozygotes showed severely disorganised fibres and vacuolation, the lenses of kfrs4/+ heterozygotes appeared normal and similar to those of wild-type rats. We used positional cloning to identify the kfrs4 mutation. The mutation was mapped to an approximately 9.7-Mb region on chromosome 7, which contains the Mip gene. This gene is responsible for a dominant form of cataract in humans and mice. Sequence analysis of the mutant-derived Mip gene identified a 5-bp insertion. This insertion is predicted to inactivate the MIP protein, as it produces a frameshift that results in the synthesis of 6 novel amino acid residues and a truncated protein that lacks 136 amino acids in the C-terminal region, and no MIP immunoreactivity was observed in the lens fibre cells of kfrs4/kfrs4 homozygous rats using an antibody that recognises the C- and N-terminus of MIP. In addition, the kfrs4/+ heterozygotes showed reduced expression of Mip mRNA and MIP protein and the kfrs4/kfrs4 homozygotes showed no expression in the lens. These results indicate that the kfrs4 mutation conveys a loss-of-function, which leads to functional inactivation though the degradation of Mip mRNA by an mRNA decay mechanism. Therefore, the kfrs4 rat represents the first characterised rat model with a recessive mutation in the Mip gene. 相似文献
3.
The level of urine selenium in healthy adult population, 230 persons, was examined. Persons were selected regarding sex, ages, and smoking habits. No differences versus these observations have been found. For a total, group values are 16.96 Se nmol/creatinine mmol, SD=5.44. It is possible from a single-void specimen to express daily excretion of selenium. 相似文献
4.
Parathyroid hormone-related protein (PTHrP) can be secreted from cells and interact with its receptor, the Type 1 PTH/PTHrP Receptor (PTHR1) in an autocrine, paracrine or endocrine fashion. PTHrP can also remain inside cells and be transported into the nucleus, where its functions are unclear, although recent experiments suggest that it may broadly regulate cell survival and senescence. Disruption of either the PTHrP or PTHR1 gene results in many abnormalities including a failure of embryonic mammary gland development in mice and in humans. In order to examine the potential functions of nuclear PTHrP in the breast, we examined mammary gland development in PTHrP (1–84) knock-in mice, which express a mutant form of PTHrP that lacks the C-terminus and nuclear localization signals and which can be secreted but cannot enter the nucleus. Interestingly, we found that PTHrP (1–84) knock-in mice had defects in mammary mesenchyme differentiation and mammary duct outgrowth that were nearly identical to those previously described in PTHrP−/− and PTHR1−/− mice. However, the mammary buds in PTHrP (1–84) knock-in mice had severe reductions in mutant PTHrP mRNA levels, suggesting that the developmental defects were due to insufficient production of PTHrP by mammary epithelial cells and not loss of PTHrP nuclear function. Examination of the effects of nuclear PTHrP in the mammary gland in vivo will require the development of alternative animal models. 相似文献
5.
M. R. Sarić 《Plant and Soil》1987,99(1):197-209
Summary The paper discusses the problems of genetic aspects of plant mineral nutrition in the light of the results presented at the
First and Second Symposia on ‘Genetic Aspects of Plant Mineral Nutrition’ organized in Beograd in 1982 and Madison in 1985,
respectively. On the basis of the results, future directions of research are discussed. The papers deal with the concentration
and content of mineral nutrients in different genotypes, physiological and biochemical aspects of the genetic specificity
of plant mineral nutrition, relations between plant genotypes and nitrogen fixing micro-organism strains, as well as with
some related problems which have been investigated to a lesser extent. Particular attention is paid to papers and problems
referring to genetic and breeding research work linked with genetic aspects of plant mineral nutrition as well as the possibilities
of developing new cultivars requiring certain soil and mineral nutrition conditions for their cultivation. 相似文献
6.
Saki Itonori Kazuya Hidari Yutaka Sanai Masaru Taniguchi Yoshitaka Nagai 《Glycoconjugate journal》1989,6(4):551-560
The effect of the chain length of the fatty acid residue of the ceramide moiety of ganglioside GM3 on the binding ability of monoclonal antibody M2590, which is specific for the carbohydrate structure of GM3-ganglioside, was examined by means of a direct binding assay on thin layer chromatography plates (TLC immunostaining) and a quantitative enzyme-linked immunosorbent assay (ELISA). Derivatives of GM3 with a long fatty acid chain reacted with the M2590 antibody, but those with a short fatty acid chain showed no reaction in either assay system. These results suggested that the acyl fatty acid moiety of the ganglioside played an important role in the formation or maintenance of the antigenic structure of the carbohydrate moiety of the ganglioside. 相似文献
7.
In the lichen genusUsnea different species ofTrebouxia-phycobionts as well as different haustorial types are known. The isolated and cultivated phycobiont ofUsnea longissima
Ach. was studied by light- and electron microscopy and resembles in cytomorphological details the type ofTrebouxia impressa
Ahmad. In addition to simple wall-to-wall contacts between the symbiotic components also intraparietal (=intrawall-)haustoria could be observed as the normal interaction type.
Frau Prof. Dr.Elisabeth Tschermak-Woess zu ihrem 70. Geburtstag gewidmet. 相似文献
8.
S. Živanović 《Human Evolution》1988,3(5):329-334
Studies of the morphological features of the temporal region of mesolithic skulls from Padina in the Iron Gate Gorge of the
Danube revealed a very prominent and large supramastoid ridge which is the most striking feature in skulls of both sexes.
Mastoid processes were larger in male skulls, but in 25% of the cases there was an overlap between the size of the processes
in male and female specimens. The mastoid ridge was prominent in both sexes. The digastric fossa was always well defined in
both sexes and in the two thirds of the skull specimens it was deep. The posterior root of the zygoma was prominent in all
the skulls, but it was better developed in the male specimens. The parietotemporal suture in both sexes rises above the level
of the pterion. There were no morphological or anthropometrical differences between the left and the right side of individual
skulls outside the limits of natural asymmetry. All these morphological characteristics of the temporal region may help in
racial and sexual diagnosis of the Mesolithic skulls from the Iron Gate Gorge. 相似文献
9.
Krystyna Szczawinska P. A. Ferchmin Richard M. Hann Vesna A. Eterović 《Cellular and molecular neurobiology》1992,12(2):95-106
1. The electric organ of Torpedo nobiliana contained putrescine (PUT), spermidine (SPD), spermine (SPM), and cadaverine (CAD). Traces of acetylated SPD and SPM were occasionaly seen. 2. Upon fractionation of the tissue by differential centrifugation, the polyamines (PA) were found predominantly in the soluble fraction. The postsynaptic membrane fraction, containing a high concentration of acetylcholine receptor (AChR), was proportionally enriched in SPM. The molar ratio of SPM to AChR was approximately two in these membranes. 3. The effect of exogeneous PA on AChR function was studied by two methods: carbamoylcholine (CCh)-dependent 86Rb+ influx into receptor-rich membrane vesicles and [alpha-125I]bungarotoxin (Bgt) binding to the AChR. 4. SPM inhibited both ion influx and the rate of Bgt binding at concentrations above 1 mM, and therefore it appears to act as a competitive antagonist of the AChR. 5. At submicromolar concentrations, and only after preincubation with the receptor-rich membrane, SPM and PUT increased the ion influx by about 20% over control values. 6. Preincubation with 100 nM SPM did not affect the equilibrium binding of iodinated toxin or the rate of toxin binding, and therefore SPM was not uncovering new receptors. 7. By measuring the initial rate of toxin binding after different periods of preincubation with 1 microM CCh, the rate of the slow phase of receptor desensitization was determined. This rate was not changed by 100 nM SPM. 8. Although these results suggest that at low concentrations SPM is a positive modulator of the AChR, the precise mechanism of action is not determined yet. 相似文献
10.
Branka Brukner Dabović Dragica Radojković Predrag Minić Jovan Savić Ana Savić 《Human genetics》1992,88(6):699-700
Summary A study was undertaken to find the frequency of the F508 deletion and those of the G551D, R553X and G524X mutations among the mainly Slavic population of Serbia, Bosnia, Herzegovina, and Montenegro and compare the frequencies determined with those in other European populations. The F508 mutation was found to account for about 70% of CF genes in central Jugoslavia, where its frequency is significantly higher than elsewhere in Southern European populations. 相似文献