Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome   总被引：1，自引：0，他引：1  

Rodriguez-Viciana P  Tetsu O  Tidyman WE  Estep AL  Conger BA  Cruz MS  McCormick F  Rauen KA 《Science (New York, N.Y.)》2006,311(5765):1287-1290

Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal abnormalities, and developmental delay. We demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase (MAPK) pathway cause CFC syndrome. The majority of cases (18 out of 23) are caused by mutations in BRAF, a gene frequently mutated in cancer. Of the 11 mutations identified, two result in amino acid substitutions that occur in tumors, but most are unique and suggest previously unknown mechanisms of B-Raf activation. Furthermore, three of five individuals without BRAF mutations had missense mutations in either MEK1 or MEK2, downstream effectors of B-Raf. Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome.  相似文献   

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis     

Okada K  Inoue A  Okada M  Murata Y  Kakuta S  Jigami T  Kubo S  Shiraishi H  Eguchi K  Motomura M  Akiyama T  Iwakura Y  Higuchi O  Yamanashi Y 《Science (New York, N.Y.)》2006,312(5781):1802-1805

The formation of the neuromuscular synapse requires muscle-specific receptor kinase (MuSK) to orchestrate postsynaptic differentiation, including the clustering of receptors for the neurotransmitter acetylcholine. Upon innervation, neural agrin activates MuSK to establish the postsynaptic apparatus, although agrin-independent formation of neuromuscular synapses can also occur experimentally in the absence of neurotransmission. Dok-7, a MuSK-interacting cytoplasmic protein, is essential for MuSK activation in cultured myotubes; in particular, the Dok-7 phosphotyrosine-binding domain and its target in MuSK are indispensable. Mice lacking Dok-7 formed neither acetylcholine receptor clusters nor neuromuscular synapses. Thus, Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK.  相似文献   

Reliability in somatic cell count measurement of clinical mastitis milk using DeLaval cell counter     

Kazuhiro Kawai  Tomohito Hayashi  Yoshio Kiku  Tomoyuki Chiba  Hajime Nagahata  Hidetoshi Higuchi  Tetsu Obayashi  Seigo Itoh  Ken Onda  Sachiko Arai  Reiichiro Sato  Toshio Oshida 《Animal Science Journal》2013,84(12):805-807

Somatic cell counts (SCC) measurements are typically performed using quantitative methods, such as the Breed method (Breed) and the Fossomatic method (FSCC). The DeLaval cell counter (DCC) developed recently is a quantitative somatic cell counter with a low initial cost and superior portability. However, since the DCC was specifically developed for measuring SCC of ≤ 4 × 10⁶ cells/mL milk from bulk tanks or individual cows, its reliability for estimating SCC that exceed this concentration has not yet been clarified. This study therefore examined whether it is possible to accurately measure SCC by diluting milk samples with initial SCC of 4 × 10⁶ cells/mL, as seen in clinical mastitis milk. We collected milk samples from 99 quarters of 99 Holstein cows with clinical mastitis. These milk samples were diluted 10‐fold with saline and thoroughly mixed before performing SCC measurement with the DCC. The correlation coefficients of SCC measured by the FSCC, Breed and DCC methods indicated strong correlations between each pair of methods. The findings showed that DCC can be used to identify bovine clinical mastitis milk and is useful as a quantitative SCC measurement device on farm sites.  相似文献   

Confirmation of Novel Quantitative Trait Loci for Seed Dormancy at Different Ripening Stages in Rice     

Kazuhiro SASAKI  Yuri KAZAMA  Youn CHAE  Tadashi SATO 《水稻科学》2013,20(3):207-212

Seed dormancy contributes resistance to pre-harvest sprouting.Effects on respective quantitative trait loci (QTLs) for dormancy should be assessed by using fresh seeds before germinability altered through storage.We investigated QTLs related to seed dormancy using backcross inbred lines derived from a cross between Nipponbare and Kasalath.Four putative QTLs for seed dormancy were detected immediately after harvest using composite interval mapping.These putative QTLs were mapped near C1488 on chromosome 3 (qSD-3.1),R2171 on chromosome 6 (qSD-6.1),R1245 on chromosome 7 (qSD-7.1) and C488 on chromosome 10 (qSD-10.1).Kasalath alleles promoted dormancy for qSD-3.1,qSD-6.1 and qSD-7.1,and the respective proportions of phenotypic variation explained by each QTL were 12.9%,9.3% and 8.1%.We evaluated the seed dormancy harvested at different ripening stages during seed development using chromosome segment substitution lines (CSSLs) to confirm gene effects.The germination rates of CSSL27 and CSSL28 substituted with the region including qSD-6.1 were significantly lower than those of Nipponbare and other CSSLs at the late ripening stage.Therefore,qSD-6.1 is considered the most effective novel QTL for pre-harvest sprouting resistance among the QTLs detected in this study.  相似文献   

Herniation of Duodenum into the Right Ventral Hepatic Peritoneal Cavity with Groove Formation at the Ventral Hepatic Surface in a 2-Week-Old Chicken     

Mohie HARIDY  Jun SASAKI  Masanobu GORYO 《The Journal of veterinary medical science / the Japanese Society of Veterinary Science》2013,75(10):1405-1407

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Adjusting for heterogeneity of variance for carcass traits affects single and multiple trait selections in genetic evaluation of Japanese Black cattle     

Hirofumi NAKAOKA  Claude GAILLARD  Takayuki IBI  Yotaro SASAE  Yoshiyuki SASAKI 《Animal Science Journal》2008,79(6):645-654

Heterogeneity of variance among subclasses of an effect is a potential source of bias in genetic evaluation. Degrees of the heterogeneity of variance among farm‐market‐year‐sex (FMYS) subclasses for carcass weight, beef marbling standard number, rib‐eye area, rib thickness and subcutaneous fat thickness were investigated in Japanese Black cattle. Consequences of adjusting for the heterogeneity on the predicted breeding values (PBVs) or on the genetic indexes derived from the PBVs of the five carcass traits were assessed. A total of 57 461 records were collected between 1997 and 2002 from steers and heifers fattened at farms across Japan. These records were grouped into 1591 FMYS subclasses. Bartlett's test showed that the degree of the heterogeneity of variance among the FMYS subclasses was sizeable in all traits (P < 0.0001). By applying a two‐step adjustment procedure it was possible to reduce the standard deviation, the coefficient of variation and the Gini coefficient of the phenotypic variances by 67.5% to 75.0% in the different traits. The applied adjustment caused a substantial re‐ranking of elite dams in the PBV for each trait as well as in the genetic index. This study provided evidence that the applied adjustment reduces the bias in the PBVs due to heterogeneous variances and increases the accuracy of bull‐dam selection.  相似文献   

Transport and environmental temperature variability of eggs and larvae of the Japanese anchovy (Engraulis japonicus) and Japanese sardine (Sardinops melanostictus) in the western North Pacific estimated via numerical particle-tracking experiments     

SACHIHIKO ITOH  ICHIRO YASUDA  HARUKA NISHIKAWA  HIDEHARU SASAKI  YOSHIKAZU SASAI 《Fisheries Oceanography》2009,18(2):118-133

Numerical particle-tracking experiments were performed to investigate the transport and variability in environmental temperature experienced by eggs and larvae of Pacific stocks of the Japanese anchovy ( Engraulis japonicus ) and Japanese sardine ( Sardinops melanostictus ) using high-resolution outputs of the Ocean General Circulation Model for the Earth Simulator (OFES) and the observed distributions of eggs collected from 1978 to 2004. The modeled anchovy individuals tend to be trapped in coastal waters or transported to the Kuroshio–Oyashio transition region. In contrast, a large proportion of the sardines are transported to the Kuroshio Extension. The egg density-weighted mean environmental temperature until day 30 of the experiment was 20–24°C for the anchovy and 17–20°C for the sardine, which can be explained by spawning areas and seasons, and interannual oceanic variability. Regression analyses revealed that the contribution of environmental temperature to the logarithm of recruitment per spawning (expected to have a negative relationship with the mean mortality coefficient) was significant for both the anchovy and sardine, especially until day 30, which can be regarded as the initial stages of their life cycles. The relationship was quadratic for the anchovy, with an optimal temperature of 21–22°C, and linear for the sardine, with a negative coefficient. Differences in habitat areas and temperature responses between the sardine and anchovy are suggested to be important factors in controlling the dramatic out-of-phase fluctuations of these species.  相似文献   

Simultaneous steroids measurement in dogs with hyperadrenocorticism using a column-switching liquid chromatography-tandem mass spectrometry method     

Noboru SASAKI  Thandar OO  Yoshikazu YASUDA  Takahiro ICHISE  Noriyuki NAGATA  Nozomu YOKOYAMA  Kazuyoshi SASAOKA  Keitaro MORISHITA  Shouta MM NAKAYAMA  Mayumi ISHIZUKA  Kensuke NAKAMURA  Mitsuyoshi TAKIGUCHI  Yoshinori IKENAKA 《The Journal of veterinary medical science / the Japanese Society of Veterinary Science》2021,83(11):1634

We developed an analytical method using an on-line column-switching liquid chromatography with triple quadrupole mass spectrometry (LC/MS/MS) for quantifying multiple steroids in serum. Using the developed method, we evaluated the serum concentration of nine steroids (cortisol, corticosterone, cortisone, 11-deoxycortisol, 21-deoxycortisol, deoxycorticosterone, progesterone, 17α-OH-progesterone and aldosterone) in dogs with hyperadrenocorticism (HAC). Serum was mixed with stable isotope internal standards and thereafter purified by the automated column-switching system. The limit of detection ranged 2–16 pg/ml for nine steroids. In the baseline samples, five steroids (cortisol, corticosterone, cortisone, 11-deoxycortisol, and 17α-OH-progesterone) were detected in all dogs. The concentrations of cortisone, 11-deoxycortisol, and 17α-OH-progesterone in dogs with HAC (n=19) were significantly higher those in dogs without HAC (n=15, P<0.02). After the adrenocorticotropic hormone stimulation test, six steroids (cortisol, corticosterone, cortisone, 11-deoxycortisol, 17α-OH-progesterone, and deoxycorticosterone) were above the limit of quantification in all dogs. Cortisol, corticosterone, cortisone, and deoxycorticosterone concentrations of dogs with HAC were significantly higher than those of dogs without HAC (P<0.02). In addition, 11-deoxycortisol and 17α-OH-progesterone concentration was higher in dogs with HAC than in dogs without HAC (P=0.044 and P=0.048, respectively). The on-line column-switching LC/MS/MS would be feasible for measuring multiple steroids in dog serum. The results suggest that cortisone, 11-deoxycortisol, and 17α-OH-progesterone would be related to HAC. Further studies are warranted to assess the clinical feasibility of steroid profile in dogs with HAC.  相似文献   

Work-related increases in titer of Campylobacter jejuni antibody among workers at a chicken processing plant in Miyazaki prefecture,Japan, independent of individual ingestion of edible raw chicken meat     

Elisabet TANGKONDA  Meiko KUBO  Satoshi SEKIGUCHI  Taisuke SHINKI  Satomi SASAKI  Kentaro YAMADA  Takako TANIGUCHI  Torrung VETCHAPITAK  Naoaki MISAWA 《The Journal of veterinary medical science / the Japanese Society of Veterinary Science》2021,83(8):1306

Workers in poultry abattoirs may be frequently exposed to Campylobacter jejuni, which is a leading cause of bacterial food poisoning in Japan. The present study was conducted to measure the titers of IgG and IgA antibodies against C. jejuni among 104 female workers in a chicken processing plant in Miyazaki prefecture, Japan. Information regarding habitual ingestion of raw chicken meat and potential occupational risk factors was collected using a questionnaire. Acid extracts of four C. jejuni strains representing the genotypes most dominant in Miyazaki were used as antigens. The levels of both immunoglobulins measured by ELISA were not correlated with ingestion of edible raw chicken meat, the amount consumed in one sitting, or its frequency. Although age was correlated with antibody levels, the length of employment was not. Furthermore, the IgG and IgA levels in workers at the evisceration step were significantly higher than those at other locations in the plant. To identify the bacterial proteins recognized by the workers’ IgG and IgA antibodies, Western blotting followed by LC/MS was conducted. Flagellin was identified as the common protein recognized in the sera of workers for whom ELISA demonstrated both the highest and lowest antibody levels. We concluded that the titers of IgG and IgA against C. jejuni in workers at the processing plant had been increased by occupational exposure to Campylobacter, regardless of raw chicken meat ingestion.  相似文献   

Relationship between mineral composition or soil texture and available silicon in alluvial paddy soils on the Shounai Plain, Japan   总被引：1，自引：0，他引：1  

Shuhei MAKABE  Ken-ichi KAKUDA  Yuka SASAKI  Tadashi ANDO  Hiroshi FUJII  Ho ANDO 《Soil Science and Plant Nutrition》2009,55(2):300-308

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