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1.
H. Furuya Yoh-ji Kukita Sukehisa Nagano Yasuyoshi Sakai Yoriaki Yamashita Hidenao Fukuyama Yuichiro Inatomi Yutaka Saito Ryoko Koike Shoji Tsuji Yasuyuki Fukumaki Kenshi Hayashi Takuro Kobayashi 《Human genetics》1997,100(3-4):450-456
We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe
disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence
determination, and restriction enzyme digestion of PCR products. Initial symptoms were the onset of slowly progressive spastic
paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes. We identified
three missense mutations (I66M, G270D, L618S) and one exon-6 skipping (535– 573del). Two of the patients had only the I66M
mutant mRNA, and one only the G270D mutant mRNA. The fourth patient carried a compound heterozygous mutation of 535–573del
and L618S. To determine the enzymatic activities produced by these mutations, we constructed mutated GALC cDNAs and expressed
them in COS-1 cells. Three mutations, viz., G270D, L618S, and exon-6 skipping (535–573del), produced diminished GALC activity
as expected. The I66M mutation in the wild-type GALC cDNA(I289) had normal activity, but when this mutation and the V289 polymorphism
were introduced into the same allele, it had decreased activity. Thus, the combination of a unique mutation and polymorphism
causes conformational change in the GALC enzyme, resulting in low enzymatic activity. AO-GLD mutations, including those found
here, are located in the N-terminus (I66M, G270D, 535–573del) or C-terminus (L618S) of the GALC enzyme, whereas the reported
mutations in the infantile form (IF-GLD) are in the central domain. This difference in mutation sites may affect the clinical
features of GLD.
Received: 4 February 1997 / Accepted: 28 April 1997 相似文献
2.
Takayoshi Yamagishi Toshihiko Serikawa Ryoko Morita Shinichi Nakamura Shoki Nishida 《Microbiology and immunology》1976,20(5):397-403
TSN agar was applicable for enumeration of Clostridium perfringens in fecal samples of adults but not in those of infants. It was demonstrated using TSN agar that some healthy aged adults had persistently carried C. perfringens at levels ranging from 107 to 109, while some others ranged from 103 to 106 per ml volume of fecal sample although all of these adults had the same diets. In the test for agglutinability of isolates of C. perfringens collected from two elderly adults, a younger adult and a baby, it was demonstrated that most of the isolates obtained from an aged adult of high levels for 19 months belonged the same serotype, while rapid alteration of serotypes could be observed in three other persons with high or low levels. In spite of as many as 109 C. perfringens per ml of feces, no trace of α-toxin could be detected in the fecal samples. In in vitro tests, fecal suspension suppressed the production of α-toxin although it allowed the organism to grow sufficiently. 相似文献
3.
Taihei Miyakawa Shoichi Katsuragi Ryoko Kuramoto 《Virchows Archiv. B, Cell pathology including molecular pathology》1988,56(1):21-24
Perivascular amyloid fibrils in the brains of patients with Alzheimer's disease have been examined by electron microscopy. The amyloid fibrils showed a hollow rod structure and consisted of globular substances. Each turn appeared to be composed of five globular subunits. These findings coincide with the ultrastructure of amyloid fibrils obtained from replicas made by a rapid freezing method. 相似文献
4.
Ryoko Nishiuchi Junichi Takagi Maria Hayashi Hiroyuki Ido Yoshiko Yagi Noriko Sanzen Tsutomu Tsuji Masashi Yamada Kiyotoshi Sekiguchi 《Matrix biology》2006,25(3):189-197
The interactions of cells with basement membranes are primarily mediated via the engagement of laminins by a group of integrin family proteins, including integrins alpha3beta1, alpha6beta1, alpha7beta1 and alpha6beta4. To explore the ligand-binding specificities of these laminin-binding integrins, we produced these integrins, including two alpha7beta1 splice variants (alpha7X1beta1 and alpha7X2beta1), as soluble recombinant proteins and determined their binding specificities and affinities toward a panel of purified laminin isoforms containing distinct alpha chains. Among the five laminin-binding integrins investigated, alpha3beta1 and alpha6beta4 exhibited a clear specificity for laminin-332 (alpha3beta3gamma2) and laminin-511 (alpha5beta1gamma1)/521 (alpha5beta2gamma1), while integrin alpha6beta1 showed a broad specificity, binding to all laminin isoforms with a preference for laminin-111 (alpha1beta1gamma1), laminin-332 and laminin-511/521. The two alpha7beta1 variants were distinct from alpha3beta1, alpha6beta1 and alpha6beta4 in that they did not bind to laminin-332. alpha7X1beta1 bound to all laminins, except laminin-332, with a preference for laminin-211 (alpha2beta1gamma1)/221 (alpha2beta2gamma1) and laminin-511/521, while alpha7X2beta1 bound preferentially to laminin-111 and laminin-211/221. Laminin-511/521 was the most preferred ligand for all the laminin-binding integrins, except for alpha7X2beta1, whereas laminin-411 was the poorest ligand, capable of binding to alpha6beta1 and alpha7X1beta1 with only modest binding affinities. These comprehensive analyses of the interactions between laminin-binding integrins and a panel of laminins clearly demonstrate that the isoforms of both integrins and laminins differ in their binding specificities and affinities, and provide a molecular basis for better understanding of the adhesive interactions of cells with basement membranes of defined laminin compositions. 相似文献
5.
Many social animals develop vocal communications to send and receive information efficiently in a group. In alarm communication, call recipients in a social group evaluate alarm calls, enhancing their probability of survival in the face of predatory threats. Calls from naïve and younger group members might be less evocative, in terms of rendering group members vigilant, than calls from more experienced adults because adults are generally more reliable. It remains uncertain, however, what acoustic characteristics render an alarm call reliable. Here, we report that adult degus, Octodon degus (Rodentia, Octodontidae), produced an alarm with a frequency-modulated (FM) syllable, accompanied by low bandwidth and entropy, to evoke a high-vigilance response amongst receivers. Unlike adults, subadult degus did not emit the FM syllable in the warning context, and their call without the FM syllable evoked less vigilance than the adult alarm. We suggest that the FM structure of the adult-produced syllable serves as the primary feature characterizing a reliable alarm call. Our results are consistent with those found in other social rodents, e.g., ground squirrels and gerbils, also produce FM alarm calls in high-urgency situations supports the importance of the FM syllable in alarm communication. 相似文献
6.
Sun Hee Choi Yuka Hagiwara-Komoda Kenji S. Nakahara Go Atsumi Ryoko Shimada Yusuke Hisa Satoshi Naito Ichiro Uyeda 《Journal of virology》2013,87(13):7326-7337
In pea carrying cyv1, a recessive gene for resistance to Clover yellow vein virus (ClYVV), ClYVV isolate Cl-no30 was restricted to the initially infected cells, whereas isolate 90-1 Br2 overcame this resistance. We mapped the region responsible for breaking of cyv1-mediated resistance by examining infection of cyv1 pea with chimeric viruses constructed from parts of Cl-no30 and 90-1 Br2. The breaking of resistance was attributed to the P3 cistron, which is known to produce two proteins: P3, from the main open reading frame (ORF), and P3N-PIPO, which has the N-terminal part of P3 fused to amino acids encoded by a small open reading frame (ORF) called PIPO in the +2 reading frame. We introduced point mutations that were synonymous with respect to the P3 protein but nonsynonymous with respect to the P3N-PIPO protein, and vice versa, into the chimeric viruses. Infection of plants with these mutant viruses revealed that both P3 and P3N-PIPO were involved in overcoming cyv1-mediated resistance. Moreover, P3N-PIPO quantitatively affected the virulence of Cl-no30 in cyv1 pea. Additional expression in trans of the P3N-PIPO derived from Cl-no30, using White clover mosaic virus as a vector, enabled Cl-no30 to move to systemic leaves in cyv1 pea. Susceptible pea plants infected with chimeric ClYVV possessing the P3 cistron of 90-1 Br2, and which were therefore virulent toward cyv1 pea, accumulated more P3N-PIPO than did those infected with Cl-no30, suggesting that the higher level of P3N-PIPO in infected cells contributed to the breaking of resistance by 90-1 Br2. This is the first report showing that P3N-PIPO is a virulence determinant in plants resistant to a potyvirus. 相似文献
7.
Tei Yamanishi Michiko Kosuge Yukiko Tokitomo Ryoko Maeda 《Bioscience, biotechnology, and biochemistry》2013,77(9):2139-2142
The aroma constituents of the highest quality pouchong tea were characterized by GC–MS. Forty-eight components, including five newly identified compounds were characterized. GC peak area percentages of the main components in pouchong tea were compared with those of jasmine tea to differentiate compounds contributing to the aroma characteristics of pouchong tea with superior floral elegant flavor. Nerolidol, jasmine lactone, methyl jasmonate, indole, benzyl cyanide and linalool oxides were found in much higher concentration in pouchong tea than in jasmine tea. These compounds seemed to contribute to the aroma characteristics of the highest quality pouchong tea. 相似文献
8.
Ahmed Aboul-Fotouh Mourad Seikou Nakamura Tsubasa Ueno Takahiro Minami Takanari Yagi Haruka Yasue Ryoko Komatsu Masayuki Yoshikawa Ashraf Mohamed Taye Mohamed Ahmed El-Moselhy Mohamed Montaser Khalifa Hisashi Matsuda 《Bioorganic & medicinal chemistry letters》2013,23(17):4813-4816
In a previous study, retrofractamide A from the fruit of Piper chaba was shown to promote adipogenesis in 3T3-L1 cells. In the present study, retrofractamide A and its derivatives were synthesized, and their adipogenetic effects in 3T3-L1 cells were examined. Among the tested compounds, an amide composed of 9-(3′,4′-methylenedioxyphenyl)-nona-2E,4E,8E-trienoic acid and an n-butyl or n-pentyl amine showed strongest activity. Moreover, the amide with the n-pentyl amine moiety significantly increased the uptake of 2-deoxyglucose into the cells, and also increased the mRNA levels of adiponectin, peroxisome proliferator-activated receptor γ2 (PPARγ2), glucose transporter 4 (GLUT4), fatty acid-binding protein (aP2), and CCAAT/enhancer-binding protein (C/EBP) α and β in a similar manner as the PPARγ agonist troglitazone, although it had less agonistic activity against PPARγ. 相似文献
9.
Takashi Kuramoto Satoko Inoue Yuki Neoda Ken-ichi Yamasaki Ryoko Hashimoto Tomoji Mashimo Sen-ichi Oda Tadao Serikawa 《Mammalian genome》2013,24(7-8):303-308
Wild-derived rat strains can provide novel genome resources that are not available in standard laboratory strains. Genetic backgrounds of wild-derived strains can facilitate effective genetic linkage analyses and often modulate the expression of mutant phenotypes. Here we describe the development and characterization of a new inbred rat strain, DOB/Oda, from wild rats (Rattus norvegicus) captured in Shitara, Aichi, Japan. Phenotype analysis of 109 parameters revealed that the DOB/Oda rats had small body weight, preference for darkness, and high locomotor activity compared with the rat strains in the National BioResource Project for the Rat (NBRP-Rat) database. Genome analysis with 357 SSLP markers identified DOB/Oda-specific alleles in 70 markers. The percentage of SSLP markers that showed polymorphism between the DOB/Oda strain and any of 132 laboratory strains from NBRP-Rat varied from 89 to 95 %. The polymorphic rate (average of the values of the percentage) for the DOB/Oda strain was 91.6 %, much higher than the rates for available wild-derived strains such as the Brown Norway rat. A phylogenic tree constructed with DOB/Oda and all the strains in NBRP-Rat showed that the DOB/Oda strain localized within the wild rat groups, apparently separate from the laboratory strains. Together, these findings indicated that the DOB/Oda rat has a unique genome that is not available in the laboratory strains. Therefore, the new DOB/Oda strain will provide an important genome resource that will be useful for designing genetic experiments and for the discovery of genes that modulate mutant phenotypes. 相似文献
10.
Ryoko Okajima Satoshi Chiba 《Evolution; international journal of organic evolution》2013,67(2):429-437
The adaptations that occur for support and protection can be studied with regard to the optimal structure that balances these objectives with any imposed constraints. The shell inclination of terrestrial gastropods is an appropriate model to address this problem. In this study, we examined how gastropods improve shell angles to well‐balanced ones from geometrically constrained shapes. Our geometric analysis and physical analysis showed that constantly coiled shells are constrained from adopting a well‐balanced angle; the shell angle of such basic shells tends to increase as the spire index (shell height/width) increases, although the optimum angle for stability is 90° for flat shells and 0° for tall shells. Furthermore, we estimated the influences of the geometric rule and the functional demands on actual shells by measuring the shell angles of both resting and active snails. We found that terrestrial gastropods have shell angles that are suited for balance. The growth lines of the shells indicated that this adaptation depends on the deflection of the last whorl: the apertures of flat shells are deflected downward, whereas those of tall shells are deflected upward. Our observations of active snails demonstrated that the animals hold their shells at better balanced angles than inactive snails. 相似文献