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Suppression of Ultraviolet Sensitivity in Escherichia coli uvr502 by the su58 Missense Suppressor 总被引:1,自引:1,他引:0
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Introduction of the su58 missense suppressor into the chromosome of the uvr502 mutant, either by mutation or by transduction, results in a marked increase of ultraviolet resistance of the uvr502 mutant. In the uvr(+) genetic background, the su58 suppressor causes some decrease of ultraviolet resistance and marked increase in the spontaneous mutation frequency. The presence of the su58 suppressor did not decrease the high frequency of spontaneous mutants in the population of the uvr502 strain. However, the significant increase in spontaneous mutant frequency in the uvr(+)su58 strain makes the difference between the uvr502 su58 and the uvr(+)su58 strains 18 times lower than that between the uvr502 and the uvr(+) suppressor-free strains. Since the missense suppressors act at the level of translation, the results suggest that the product of the uvr(502) gene is a protein. 相似文献
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Goto DB Ogi M Kijima F Kumagai T van Werven F Onouchi H Naito S 《Genes & genetic systems》2002,77(2):89-95
Met-overaccumulating mutants provide a powerful genetic tool for examining both the regulation of the Met biosynthetic pathway and in vivo developmental responses of gene expression to altered Met levels. We have previously reported the identification of two Arabidopsis thaliana Met over-accumulation (mto) mutants, mto1-1 and mto2-1, that carry mutations in the genes encoding cystathionine gamma-synthase (CGS) and threonine synthase (TS), respectively. A third mutant, mto3-1, has recently been reported to carry a mutation in the gene encoding S-adenosylmethionine synthetase 3 (SAMS3). Here, we report the isolation of a new ethionine-resistant A. thaliana mutant that over-accumulates soluble Met approximately 20-fold in young rosettes. The causal mutation was determined to be a single, recessive mutation that was mapped to chromosome 3. Sequence analysis identified a single nucleotide change in the gene encoding SAMS3 that was distinct from the mto3-1 mutation and altered the amino acid sequence of the enzyme active site. This mutation was therefore referred to as mto3-2. Although Met over-accumulation in the mto3-2 mutant was similar to that in the mto2-1 mutant, CGS mRNA levels did not respond to the mto3-2 mutation and were similar to that in equivalent wild-type plants. 相似文献
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Patocs A Liko I Varga I Gergics P Boros A Futo L Kun I Bertalan R Toth S Pazmany T Toth M Szücs N Horanyi J Glaz E Racz K 《The Journal of steroid biochemistry and molecular biology》2005,97(3):257-265
The CYP17 gene, located on chromosome 10q24-q25, encodes the cytochrome P450c17 enzyme. Mutations of this gene cause the 17alpha-hydroxylase/17,20-lyase deficiency, which is a rare, autosomal recessive form of congenital adrenal hyperplasia. Approximately 50 different mutations of the CYP17 gene have been described, of which some mutations have been identified in certain ethnic groups. In this study, we present the clinical history, hormonal findings and mutational analysis of two patients from unrelated families, who were evaluated for hypertension, hypokalemia and sexual infantilism. In the first patient, who was a 37-year-old female, additional studies showed a large myelolipoma in the left adrenal gland, and a smaller tumor in the right adrenal gland. In the second patient, who was a 31-year-old phenotypic female, clinical work-up revealed a 46,XY kariotype, absence of ovaries and presence of testes located in the inner opening of both inguinal canals. Analysis of the CYP17 gene by polymerase chain reaction amplification and direct sequencing demonstrated a novel homozygous mutation of codon 440 from CGC (Arg) to TGC (Cys) in both patients. The effect of this novel mutation on 17alpha-hydroxylase/17,20-lyase activity was assessed by in vitro studies on the mutant and wild-type P450c17 generated by site-directed mutagenesis and transfected in nonsteroidogenic COS-1 cells. These studies showed that the mutant P450c17 protein was produced in transfected COS-1 cells, but it had negligible 17alpha-hydroxylase and 17,20-lyase activities. In addition, three-dimensional computerized modeling of the heme-binding site of the P450c17 enzyme indicated that replacement of Arg by Cys at amino acid position 440 predicts a loss of the catalytic activity of the enzyme, as the mutant enzyme containing Cys440 fails to form a hydrogen bond with the propionate group of heme, which renders the mutant enzyme unable to stabilize the proper position of heme. Based on these findings we conclude that expressing the CYP17 gene with functional analysis, combined with three-dimensional computerized modeling of the heme-binding site of the protein provide feasible tools for molecular characterizing of functional consequences of the novel CYP17 mutation on enzyme function. 相似文献
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The aim of the present study was to determine the cellular site of eyeless-I (ey-I) and eyeless-2 (ey-2) gene action, causing anophthalmia or microphthalmia. Eye primordia from 10-day-old embryos of ZRDCT-AN and CC57BR (control) mice were cultured in vitro for 3 or 6 days. In 59 out of 77 cultured mutant eye primordia neural retina was disturbed. In 9 mutant eye primordia the disturbed neural retina was 4-6 times thinner than in the control. However, lens differentiation was similar to that in the control, epithelial and fibrous components were observed. Thus, mutant genes eyeless inhibit the growth of primordial retina, causing secondary developmental defects of the lens and other eye structures. 相似文献
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A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele 总被引:13,自引:0,他引:13
M T Tusie-Luna P W Speiser M Dumic M I New P C White 《Molecular endocrinology (Baltimore, Md.)》1991,5(5):685-692
The mild nonclassic form of steroid 21-hydroxylase deficiency is one of the most common autosomal recessive disorders in humans, occurring in almost 1% of caucasians and about 3% of Ashkenazi Jews. Many patients with this disorder carry a Val-281----Leu missense mutation in the CYP21 gene. This and most other mutations causing 21-hydroxylase deficiency are normally present in the CYP21P pseudogene and have presumably been transferred to CYP21 by gene conversion. To identify other potential nonclassic alleles, we used recombinant vaccinia virus to express two mutant enzymes carrying the mutations Pro-30----Leu (normally present in CYP21P) and Ser-268----Thr (considered a normal polymorphism of CYP21). Whereas the activity of the protein carrying the Ser----Thr mutation was indeed indistinguishable from the wild type, the enzyme with the Pro----Leu substitution had 60% of wild-type activity for 17-hydroxyprogesterone and about 30% of normal activity for progesterone when assayed in intact cells. When kinetic analysis of the latter mutant enzyme was performed in cellular lysates, the first order rate constants (maximum velocity/dissociation constant) for both substrates were reduced 10- to 20-fold compared with those for the wild-type enzyme. Pro-30 is conserved in many microsomal P450 enzymes and may be important for proper orientation of the enzyme with respect to the aminoterminal transmembrane segment. The Pro----Leu mutation was present in 5 of 18 patients with nonclassic 21-hydroxylase deficiency, suggesting that this mutation indeed acts as a nonclassic deficiency allele. 相似文献
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以弯齿盾果草不同发育时期的花芽为材料,在体视显微镜解剖观察的基础上使用扫描电镜对弯齿盾果草花序、花及果实的发育过程进行了观察。结果显示:(1)弯齿盾果草的花序是由最初的一个球形花序原基经过多次分裂形成的,且花序发生式样符合蝎尾状聚伞花序结构,而非通常所描述的镰状或螺状聚伞花序;花序发生过程中无单一主轴,花序轴是由侧枝连接而成,每一朵花原基有其对应的1枚苞片,下一花原基是从相邻的上一枚苞腋里发生,相邻两花原基交错互生。(2)花器官的发生是按照花萼原基、花冠原基、雄蕊原基和雌蕊原基的顺序发育,但雄蕊原基的花药部分发育速度要比花冠原基快,所以花器官的发育是按照花萼、雄蕊、花冠和雌蕊的顺序发育。(3)子房四深裂结构是由4个原基分别发育,而后相互靠拢而成。(4)小坚果表面的附属结构发生于子房发育后期,其背面的内外层突起分别是由生长较快的外部组织的边缘通过上部内缩和下部向外环状生长形成。 相似文献
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Summary A mutation pgi1 in the yeast Saccharomyces cerevisiae conferring deficiency of the glycolytic enzyme glucose 6-phosphate isomerase is characterised genetically. The mutation segregates 2+:2- in tetrads from diploids heterozygous for the mutant phenotype. The mutation is semi-dominant and is located on the right arm of chromosome II in the order: tsm134-lys2-pgi1-tyr1 approximately 15 map units from tyr1. The mutation pgi1 defines the structural gene of glucose 6-phosphate isomerase and can be suppressed intragenically giving revertants that have an unstable enzyme. In one temperature-sensitive revertant no enzyme activity in excess of the mutant level could be detected although fructose 6-phosphate was converted to glucose 6-phosphate in vivo. The suppressor locus in this revertant is dominant and is unlinked to the pgi1 locus. 相似文献
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The CYP2D gene cluster on human chromosome 22 containing the functional cytochrome P450 gene CYP2D6 and two or three highly homologous pseudogenes is involved in a clinically important variation in the inactivation of drugs and environmental chemicals. Several mutant haplotypes of CYP2D6 have been identified by restriction analysis and by PCR-based allele-specific amplification. To understand the evolutionary sequence of mutational events as well as recently discovered interracial differences, we analyzed the arrangement of the CYP2D haplotype containing a common mutant allele of CYP2D6 associated with a XbaI 44-kb fragment. This haplotype contains four CYP2D genes instead of three. Comparison of the sequences of these genes with those of previously characterized haplotypes suggests that an early point mutation was followed by a crossover and a gene conversion event, the latter found preferentially in Caucasians. These data are consistent with the rapid evolution of this locus during "plant-animal warfare" with practical consequences for present-day defense of the organism against environmental adversity. 相似文献
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Meyer B Bazzi H Zidek V Musilova A Pravenec M Kurtz TW Nurnberg P Christiano AM 《Differentiation; research in biological diversity》2004,72(9-10):541-547
A recessive hairless mutation arose spontaneously in a congenic line of spontaneously hypertensive rats SHR.BN-(D1Mit3-Igf2)/Ipcv. The mutant rats develop generalized alopecia except for partial hair growth on their heads. Affected animals of the congenic line were crossed with LEW rats and randomly bred for several generations. A genome scan in 74 affected and 75 unaffected offspring localized the mutant gene on rat chromosome 18p12, near the marker D18Rat107, which is closely linked to the desmosomal cadherin gene cluster, syntenic to mouse chromosome 18 and human chromosome 18q12. Recently, the mouse and rat phenotypes lah/lah (lanceolate hair) and lah(J)/lah(J)(lanceolate hair-J) were found to be caused by mutations in the desmoglein 4 (Dsg4) gene. Direct sequencing of the Dsg4 gene in the SHR revealed a homozygous C-to-T transition generating a premature termination codon within exon 8 in the affected animals. Further studies on the skin histology in affected rats demonstrated features consistent with a lanceolate hair mutation, providing further support for the crucial role of desmoglein 4 in hair shaft differentiation. 相似文献
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V Vasiliou A Puga D W Nebert 《Biochemical and biophysical research communications》1992,187(1):413-419
We have examined enzyme activities and mRNA levels corresponding to aldehyde dehydrogenase-3 genes encoding cytosolic (ALDH3c) and microsomal (ALDH3m) forms. In contrast to negligible activities in the intact mouse liver, both ALDH3c and ALDH3m enzyme activities are inducible by benzo[a]pyrene and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in mouse hepatoma Hepa-1c1c7 cell cultures. Constitutive mRNA levels of ALDH3c are virtually absent, whereas those of ALDH3m are substantial; using Hepa-1 mutant lines, we show that both ALDH3c and ALDH3m are TCDD-inducible by an Ah receptor-dependent mechanism. Basal mRNA levels of ALDH3c, but not those of ALDH3m, are strikingly elevated in untreated mutant cells lacking a functional CYP1A1 enzyme; low ALDH3c basal mRNA levels can be restored by introduction of a functional murine CYP1A1 or human CYP1A2 enzyme into these mutant cells. These data suggest that the TCDD induction process is distinct from the CYP1A1/CYP1A2 metabolism-dependent repression of constitutive gene expression; we suggest that this latter property classifies the Aldh-3c gene, but not the Aldh-3m gene, as a member of the murine [Ah] battery. 相似文献
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CYP1A2 expression is constitutively high in mouse liver and is well known for metabolizing several drugs and many procarcinogens to reactive intermediates that can cause toxicity or cancer. In the present study, the basal level of hepatic CYP1A2 activity was shown to vary among different inbred mouse strains. The highest methoxyresorufin-O-demethylase activity (261+/-52pmol/mgprotein/min) was registered in CC57BR and the lowest (82+/-11pmol/mgprotein/min) in C3H/a. We have tested the hypothesis that possible polymorphisms in regulatory elements in the 5'-upstream region of the mouse CYP1A2 gene could cause the differences in CYP1A2 enzyme activity among different inbred strains. We have performed a study on the CYP1A2 gene by sequencing the regulatory region from -4675 to -4204 where two enhancer elements were recently identified. The absence of mutation prescribing the phenotype in the CYP1A2 gene was found. The region studied seems to be a highly conserved in mice and not to be associated with interstrain differences in constitutive CYP1A2 enzyme activity. 相似文献
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Dubreuil-Maurizi C Vitecek J Marty L Branciard L Frettinger P Wendehenne D Meyer AJ Mauch F Poinssot B 《Plant physiology》2011,157(4):2000-2012
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Evidence for Positive Regulation of the Proline Utilization Pathway in Saccharomyces cerevisiae 总被引:12,自引:0,他引:12
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Marjorie C. Brandriss 《Genetics》1987,117(3):429-435
A mutation has been identified that prevents Saccharomyces cerevisiae cells from growing on proline as the sole source of nitrogen, causes noninducible expression of the PUT1 and PUT2 genes, and is completely recessive. In the put3-75 mutant, the basal level of expression (ammonia as nitrogen source) of PUT1-lacZ and PUT2-lacZ gene fusions as measured by beta-galactosidase activity is reduced 4- and 7-fold, respectively, compared with the wild-type strain. Normal regulation is not restored when the cells are grown on arginine as the sole nitrogen source and put3-75 cells remain sensitive to the proline analog, L-azetidine-2-carboxylic acid, indicating that the block is not at the level of transport of the inducer, proline. In a cross between the put3-75 strain and the semidominant, constitutive mutation PUT3c-68, only parental ditype tetrads were found, indicating allelism of the two mutations. Further support for allelism derives from the comparison of enzyme levels in heteroallelic and heterozygous diploid strains. The constitutive allele appears to be fully dominant to the noninducible allele but only partially dominant to the wild type, suggesting an interaction between the wild-type and PUT3c-68 gene products. The PUT3 gene maps on chromosome XI, about 5.7 cM from the centromere. The phenotypes of alleles of the PUT3 gene, either recessive and noninducible (the put3-75 phenotype) or semidominant and constitutive (the PUT3c-68 phenotype), and their pleiotropy suggest that the PUT3 gene product is a positive activator of the proline utilization pathway. 相似文献