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Artykuły w czasopismach na temat "Translocation (Genetics)"

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Tennyson, Rachel B., Nathalie Ebran, Anissa E. Herrera i Janet E. Lindsley. "A Novel Selection System for Chromosome Translocations in Saccharomyces cerevisiae". Genetics 160, nr 4 (1.04.2002): 1363–73. http://dx.doi.org/10.1093/genetics/160.4.1363.

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Abstract Chromosomal translocations are common genetic abnormalities found in both leukemias and solid tumors. While much has been learned about the effects of specific translocations on cell proliferation, much less is known about what causes these chromosome rearrangements. This article describes the development and use of a system that genetically selects for rare translocation events using the yeast Saccharomyces cerevisiae. A translocation YAC was created that contains the breakpoint cluster region from the human MLL gene, a gene frequently involved in translocations in leukemia patients, flanked by positive and negative selection markers. A translocation between the YAC and a yeast chromosome, whose breakpoint falls within the MLL DNA, physically separates the markers and forms the basis for the selection. When RAD52 is deleted, essentially all of the selected and screened cells contain simple translocations. The detectable translocation rates are the same in haploids and diploids, although the mechanisms involved and true translocation rates may be distinct. A unique double-strand break induced within the MLL sequences increases the number of detectable translocation events 100- to 1000-fold. This novel system provides a tractable assay for answering basic mechanistic questions about the development of chromosomal translocations.
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Welker, D. L., i K. L. Williams. "TRANSLOCATIONS IN DICTYOSTELIUM DISCOIDEUM". Genetics 109, nr 2 (1.02.1985): 341–64. http://dx.doi.org/10.1093/genetics/109.2.341.

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ABSTRACT Fourteen translocations of independent origin were identified in Dictyostelium discoideum on the basis of segregation anomalies of diploids heterozygous for these chromosome rearrangements, all of which led to the cosegregation of unlinked markers. Many of these translocations were discovered in strains mutagenized with MNNG or in strains carrying mutations affecting DNA repair; however, spontaneous translocations were also obtained. Haploid mitotic recombinants of the rearranged linkage groups were produced from diploids heterozygous for the translocations at frequencies of up to 5% of viable haploid segregants; this is at least a ten-fold higher frequency than that seen with diploids not heterozygous for translocations (∼0.1%). These haploid recombinants included both translocated and nontranslocated strains. The T354(II,VII) translocation and possibly the T357(IV,VII) translocation reduce the chromosome number to n = 6; haploids carrying 11 other translocations all have karyotypes with n = 7. Genetic characterization of the T357(IV,VII) translocation showed that the bwnA and whiC loci normally found on linkage group IV were physically linked to the linkage group VII loci couA, phgA, bsgB and cobA.
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McKim, K. S., A. M. Howell i A. M. Rose. "The effects of translocations on recombination frequency in Caenorhabditis elegans." Genetics 120, nr 4 (1.12.1988): 987–1001. http://dx.doi.org/10.1093/genetics/120.4.987.

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Abstract In the nematode Caenorhabditis elegans, recombination suppression in translocation heterozygotes is severe and extensive. We have examined the meiotic properties of two translocations involving chromosome I, szT1(I;X) and hT1(I;V). No recombination was observed in either of these translocation heterozygotes along the left (let-362-unc-13) 17 map units of chromosome I. Using half-translocations as free duplications, we mapped the breakpoints of szT1 and hT1. The boundaries of crossover suppression coincided with the physical breakpoints. We propose that DNA sequences at the right end of chromosome I facilitate pairing and recombination. We use the data from translocations of other chromosomes to map the location of pairing sites on four other chromosomes. hT1 and szT1 differed markedly in their effect on recombination adjacent to the crossover suppressed region. hT1 had no effect on recombination in the adjacent interval. In contrast, the 0.8 map unit interval immediately adjacent to the szT1(I;X) breakpoint on chromosome I increased to 2.5 map units in translocation heterozygotes. This increase occurs in a chromosomal interval which can be expanded by treatment with radiation. These results are consistent with the suggestion that the szT1(I) breakpoint is in a region of DNA in which meiotic recombination is suppressed relative to the genomic average. We propose that DNA sequences disrupted by the szT1 translocation are responsible for determining the frequency of meiotic recombination in the vicinity of the breakpoint.
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Tulay, P., M. Gultomruk, N. Findikli i M. Bahceci. "Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics?" Zygote 23, nr 5 (29.09.2014): 778–84. http://dx.doi.org/10.1017/s0967199414000422.

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SummaryBalanced reciprocal translocation carriers are usually phenotypically normal. Although the reproductive risk of these carriers varies, they generally have a lower chance to produce normal or balanced gametes. Preimplantation genetic diagnosis (PGD) is offered to these patients to increase their chances of becoming pregnant by selecting a balanced embryo for transfer. This study aimed to analyse the development and the PGD outcome of the embryos obtained from reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements. In total, 27 reciprocal translocation carriers underwent 31 cycles of PGD. PGD was performed using multicolour fluorescence in situ hybridisation for 298 embryos and of these 136 were obtained from couples carrying translocations involving chromosome 10 rearrangements. Carriers of translocations involving chromosome 10 rearrangements have a lower chance of producing normal or balanced embryos compared with the carriers with other rearrangements. The development of embryos obtained from the patients with chromosome 10 rearrangements was impaired and only a limited number of embryos developed to the blastocyst stage.
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Leblon, G., D. Zickler i S. Lebilcot. "MOST UV-INDUCED RECIPROCAL TRANSLOCATIONS IN SORDARIA MACROSPORA OCCUR IN OR NEAR CENTROMERE REGIONS". Genetics 112, nr 2 (1.02.1986): 183–204. http://dx.doi.org/10.1093/genetics/112.2.183.

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ABSTRACT In fungi, translocations can be identified and classified by the patterns of ascospore abortion in asci from crosses of rearrangement x normal sequence. Previous studies of UV-induced rearrangements in Sordaria macrospora revealed that a major class (called type III) appeared to be reciprocal translocations that were anomalous in producing an unexpected class of asci with four aborted ascospores in bbbbaaaa linear sequence (b = black; a = abortive). The present study shows that the anomalous type III rearrangements are, in fact, reciprocal translocations having both breakpoints within or adjacent to centromeres and that bbbbaaaa asci result from 3:1 disjunction from the translocation quadrivalent.—Electron microscopic observations of synaptonemal complexes enable centromeres to be visualized. Lengths of synaptonemal complexes lateral elements in translocation quadrivalents accurately reflect chromosome arm lengths, enabling breakpoints to be located reliably in centromere regions. All genetic data are consistent with the behavior expected of translocations with breakpoints at centromeres.—Two-thirds of the UV-induced reciprocal translocations are of this type. Certain centromere regions are involved preferentially. Among 73 type-III translocations, there were but 13 of the 21 possible chromosome combinations and 20 of the 42 possible combinations of chromosome arms.
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Vasilevska, M., E. Ivanovska, K. Kubelka Sabit, E. Sukarova-Angelovska i G. Dimeska. "THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA". Balkan Journal of Medical Genetics 16, nr 2 (1.12.2013): 23–28. http://dx.doi.org/10.2478/bjmg-2013-0027.

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ABSTRACT Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The overall frequency of all translocations was 0.42%. Balanced state translocations were 0.29% and the frequency of translocations in an unbalanced state was 0.13%. There was one balanced de novo X-autosome translocation [46,X,t(X;10)(p11.23;q22.3)] and one balanced double translocation [46,XX,t(1;21);t(7;16)(1p21; 21q11) (7q31;16q23)] inherited from the mother. Most of the detected translocations were the result of unknown familial translocations, but some of them had been previously detected in one of the parents. In order to detect the recurrence risk for future pregnancies, we proposed genetic counseling in each of the cases and we established whether the parents were heterozygous for the same translocation. Histopatological findings for some unbalanced translocations correlated with phenotypes of detected unbalanced karyotypes
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Yu, Xin, i Abram Gabriel. "Reciprocal Translocations in Saccharomyces cerevisiae Formed by Nonhomologous End Joining". Genetics 166, nr 2 (1.02.2004): 741–51. http://dx.doi.org/10.1093/genetics/166.2.741.

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Abstract Reciprocal translocations are common in cancer cells, but their creation is poorly understood. We have developed an assay system in Saccharomyces cerevisiae to study reciprocal translocation formation in the absence of homology. We induce two specific double-strand breaks (DSBs) simultaneously on separate chromosomes with HO endonuclease and analyze the subsequent chromosomal rearrangements among surviving cells. Under these conditions, reciprocal translocations via nonhomologous end joining (NHEJ) occur at frequencies of ∼2-7 × 10-5/cell exposed to the DSBs. Yku80p is a component of the cell’s NHEJ machinery. In its absence, reciprocal translocations still occur, but the junctions are associated with deletions and extended overlapping sequences. After induction of a single DSB, translocations and inversions are recovered in wild-type and rad52 strains. In these rearrangements, a nonrandom assortment of sites have fused to the DSB, and their junctions show typical signs of NHEJ. The sites tend to be between open reading frames or within Ty1 LTRs. In some cases the translocation partner is formed by a break at a cryptic HO recognition site. Our results demonstrate that NHEJ-mediated reciprocal translocations can form in S. cerevisiae as a consequence of DSB repair.
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McKee, Bruce. "X-4 Translocations and Meiotic Drive in Drosophila melanogaster Males: Role of Sex Chromosome Pairing". Genetics 116, nr 3 (1.07.1987): 409–13. http://dx.doi.org/10.1093/genetics/116.3.409.

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ABSTRACT Males carrying certain X-4 translocations exhibit strongly skewed sperm recovery ratios. The XP4D half of the translocation disjoins regularly from the Y chromosome and the 4PXD half disjoins regularly from the normal 4. Yet the smaller member of each bivalent is recovered in excess of its pairing partner, apparently due to differential gametic lethality. Chromosome recovery probabilities are multiplicative; the viability of each genotype is the product of the recovery probability of its component chromosomes. Meiotic drive can also be caused by deficiency for X heterochromatin. In(1)sc4Lsc8R males show the same size dependent chromosome recoveries and multiplicative recovery probabilities found in T(1;4)BS males. Meiotic drive in In(1)sc4Lsc8R males has been shown to be due to X-Y pairing failure. Although pairing is regular in the T(X;4) males, the striking phenotypic parallels suggest a common explanation. The experiments described below show that the two phenomena are, in fact, one and the same. X-4 translocations are shown to have the same effect on recovery of independently assorting chromosomes as does In(1)sc4Lsc8R. Addition of pairing sites to the 4PXD half of the translocation eliminates drive. A common explanation—failure of the distal euchromatic portion of the X chromosome to participate in X:Y meiotic pairing—is suggested as the cause for drive. The effect of X chromosome breakpoint on X-4 translocation induced meiotic drive is investigated. It is found that translocations with breakpoints distal to 13C on the salivary map do not cause drive while translocations broken proximal to 13C cause drive. The level of drive is related to the position of the breakpoint—the more proximal the breakpoint the greater the drive.
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Liu, Hongfang, Bin Mao, Xiaojuan Xu, Lin Liu, Xiaoling Ma i Xuehong Zhang. "The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples". Cytogenetic and Genome Research 160, nr 11-12 (2020): 625–33. http://dx.doi.org/10.1159/000512847.

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The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer. We enrolled 75 couples with a balanced translocation who underwent 83 PGT cycles (58 cycles for carriers with reciprocal translocations and 25 cycles for carriers with Robertsonian translocations) and 388 blastocysts were diagnosed. Moreover, we transferred single euploid blastocysts through frozen embryo transfer and calculated the biochemical pregnancy, clinical pregnancy, miscarriage, and ongoing pregnancy rates per embryo transfer cycle. Despite a mean maternal age of 29.8 years and mean of 4.34 embryos biopsied, there was a 32.8% chance of recording no chromosomally normal/balanced embryos for reciprocal translocation carriers. The proportion of normal/balanced embryos was significantly higher (44.1 vs. 27.8%) in Robertsonian translocation carriers than in reciprocal translocation carriers. Female carriers had a significantly lower (23.3 vs. 42.4%, 34.7 vs. 54.7%, respectively) percentage of normal/balanced embryos than male carriers, regardless of the translocation. After transfering single blastocysts, we obtained a 64.4% clinical pregnancy rate per transfer, and the clinical miscarriage rate was 5.7%. Amniocentesis results showed that all karyotypes of the fetuses were consistent with PGT results. The clinical outcomes are probably not influenced by the type of translocation, maternal age, and blastocyst morphology following the transfer of euploid blastocysts. Therefore, we conclude that NGS-based PGT is an efficient method for analyzing balanced translocation carriers, and aneuploidy screening had good clinical outcomes.
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Schmid, Michael, Claus Steinlein i Heinz Winking. "Multicolor Spectral Analyses of Mitotic and Meiotic Mouse Chromosomes Involved in Multiple Robertsonian Translocations. I. The CD/Cremona Hybrid Strain". Cytogenetic and Genome Research 147, nr 4 (2015): 253–59. http://dx.doi.org/10.1159/000444597.

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Multicolor spectral analysis (spectral karyotyping) was applied to mitotic and male diakinetic chromosomes of hybrid mice carrying a unique system of 18 autosomal Robertsonian translocation chromosomes with alternating arm homologies. Only the autosomes 19 and the XY sex chromosomes are excluded from these Robertsonian translocations. The translocations, previously identified by conventional banding analyses, could be verified by spectral karyotyping. Besides the Robertsonian translocations, no other interchromosomal rearrangements were detected. In diakineses of male meiosis, the 18 metacentric Robertsonian translocation chromosomes form a very large meiotic ‘superring'. The predictable, specific order of the chromosomes along this ‘superring' was completely confirmed by multicolor spectral analysis. In the majority of diakineses analyzed, the free autosomal bivalent 19 and the XY sex bivalent form a conspicuous complex which tightly associates with the 12;14 Robertsonian translocation chromosome in the ‘superring'.
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Rozprawy doktorskie na temat "Translocation (Genetics)"

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Fourie, Mariesa. "Molecular characterization and further shortening of recombinant forms of the Lr19 translocation". Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/189.

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Shek, Kim Fung. "Identification of cis-regulatory elements in mouse Mab21l2 gene by comparative genomics /". View abstract or full-text, 2010. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202010%20SHEK.

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Sivanathan, Viknesh. "Regulation of DNA translocation by FtsK". Thesis, University of Oxford, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.670159.

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Zhang, Ji Guang. "Molecular analysis of the BCR-ABL translocation in chronic myeloid leukaemia". Thesis, Imperial College London, 1997. http://hdl.handle.net/10044/1/11963.

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Kwek, Chin Kiat Women's &amp Children's Health Faculty of Medicine UNSW. "Isolation and characterisation of inhibitors of leukaemia with translocatins involving the mixed lineage leukaemia oncogene". Awarded by:University of New South Wales, 2007. http://handle.unsw.edu.au/1959.4/38520.

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Acute lymphoblastic leukaemia is the most common childhood cancer with cure rates of approximately 80%. This success can be attributed to the introduction of risk stratification for patients and employment of intensified treatment regimes for patients with high risk disease. However, the identification of prognostically important leukaemia subtypes, unfortunately, is an labour-intensive process. In addition, despite the success in treating childhood ALL, specific subgroups of patients nevertheless still have poor survival rates. This is particularly true for leukaemias characterised by chromosomal translocations involving the MLL oncogene on chromosome 11q23. By using a novel bioinformatics approach, GeneRave, a set of 12 classifier genes (PTPRK, FOS, ENG, Lgal-S1, TCFL5, LRMP, CTGF, IGJ, MX1, PENK, CD3D and HBG1) was selected from a publicly available U95 Affymetrix microarray dataset. Real time PCR carried out on a blinded cohort of 58 primary ALL samples yielded an accuracy of 86%. The absence of PENK gene expression in the majority of ALL samples tested appears to have decreased the overall accuracy. Nevertheless, the results indicate that this method of classification can be easily and quickly performed and therefore may be useful as an adjunct to routinely used methodology in the diagnostic classification of childhood ALL. Parellal screening of a 34,000 chemical small molecules library identified 30 ???hits??? that exhibited specificity toward leukaemia, and many of which shared structural similarity. The cytotoxic effect of these compounds was further investigated in a panel of 19 cell lines that included 3 MLL-translocated (MV411, THP-1 and PER-485), 7 non-MLL-translocated leukaemias (REH, Jurkat, K562, HL60, Hal-01, UOB-B, NB4), 2 immortalized normal blood cell lines, 4 non-leukaemic tumour cell lines (Calu6, MCF7, BE(2)-C, and HeLa) and 3 normal cell lines (HSF, MCF10a and MRC5). In particular, two compounds were identified, SM6 and SM7, that were highly effective at killing MLL-translocated cell lines in the low micromolar range while having little or no effect on the other cell lines. Treatment of PER-485 cells with SM6 and SM7 showed mark down-regulation of the MLL chimaeric fusion protein together with its down-stream targets. One other more broadly acting anti-leukaemia compounds were also identified.
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Zhekov, Ivailo. "Dissection of a functional interaction between the XerD recombinase and the DNA translocase FtsK". Thesis, University of Oxford, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.572642.

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Successful bacterial circular chromosome segregation requires that any dimeric chromosomes, which arise by crossing over during homologous recombination, are converted to monomers. Resolution of dimers to monomers requires the action of the XerCD site-specific recombinase at dif in the chromosome replication terminus region. This reaction requires the DNA translocase, FtsK(C), which activates dimer resolution by catalysing an ATP hydrolysis-dependent switch in the catalytic state of the nucleoprotein recombination complex. We show that a 62-amino-acid fragment of FtsK(C) interacts directly with the XerD C-terminus in order to stimulate the cleavage by XerD of BSN, a dif-DNA suicide substrate containing a nick in the 'bottom' strand. The resulting recombinase-DNA covalent complex can undergo strand exchange with intact duplex dif in the absence of ATP. FtsK(C)-mediated stimulation of BSN cleavage by XerD requires synaptic complex formation. Mutational impairment of the XerD-FtsK(C) interaction leads to reduction in the in vitro stimulation of BSN cleavage by XerD and a concomitant deficiency in the resolution of chromosomal dimers at dif in vivo, although other XerD functions are not affected.
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Heyns, I. C. "Mapping and restructuring of an Ae. kotschyi derived translocation segment in common wheat". Thesis, Stellenbosch : University of Stellenbosch, 2010. http://hdl.handle.net/10019.1/5172.

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Thesis (PhD (Genetics))--University of Stellenbosch, 2010.
Includes bibliography.
ENGLISH ABSTRACT: The wild relatives are an important source of new genes for the genetic improvement of wheat. At Stellenbosch University the leaf and stripe rust resistance genes Lr54 and Yr37 were transferred from Aegilops kotschyi to chromosome 2DL of wheat. In an attempt to reduce the size of the whole-arm translocation on which the resistance genes occur, homoeologous pairing was induced between the wheat and corresponding Ae. kotschyi chromatin. The purpose of this study was to: (i) Evaluate the testcross progeny thus obtained; identify translocation recombinants that retained Lr54/Yr37 and to characterize these using molecular markers (ii) Test for the presence of genes for photoperiod insensitivity (Ppd) and reduced height (Rht) believed to be associated with the translocation (iii) Develop a SCAR marker for the most useful recombinant that could be recovered. Ten putative translocation recombinants were identified following the screening of 159 hemizygous testcross F1 plants with three microsatellite markers specific for chromosome arm 2DL. The recombinants were then characterized with another five microsatellite markers. Using the eight microsatellite markers the recombinants were ordered in two size categories with recombinant #74 being the shortest and having retained only proximal alien chromatin on 2DL. In addition to microsatellite markers, RAPDs, RGAs, AFLPs and SCAR markers were genetically mapped to the translocation and further resolved the recombinants into three size categories. In an attempt to find suitable markers linked to the shortest recombinant (#74) a polymorphic 410 bp AFLP fragment produced with the enzyme/selective nucleotide combination EcoRI – AAC/MseI – CAT, was converted into a dominant SCAR marker. In addition three microsatellite markers that mapped to recombinant #74 provided a useful recessive molecular marker system to detect Lr54/Yr37. Evaluation of the 10 recombinants with four 2DS-specific microsatellite markers revealed a large deletion of this chromosome arm in recombinant #74. This deletion may affect plant phenotypic characteristics and a strategy to replace the deleted region in recombinant #74 is proposed. To test for the presence of a gene for photoperiod insensitivity on the translocation, translocation-carriers plus controls were subjected to long and short day treatments, and the effect on time to flowering was studied. However, no evidence was found for the presence of such a gene. A height experiment to test for the presence of an Rht gene on the translocation confirmed its presence. This gene (designated H) appeared to be different from Rht8 on chromosome 2DS and was mapped on 2DL. While H does not occur in a chromosome region that corresponds with the location of Rht8, it does not rule out the possibility that they could be orthologous loci. Plant height data obtained for recombinant #74 suggested that H was lost through recombination in this particular recombinant. A greenhouse experiment suggested that the full-length translocation increased 100 kernel mass but had a detrimental effect on overall plant yield. Since a much shorter recombinant (#74) has been obtained, this will also have to be evaluated for associated effects. Such an evaluation needs to be done under commercial growing conditions and should involve the comparison of near-isogenic bulks with and without recombinant chromosome #74. The stripe rust resistance gene (Yr37) was mapped by screening hemizygous TF2 progeny of the 10 recombinants with Puccinia striiformis pathotype 6E22A+. Recombinant #74 retained both Lr54 and Yr37 and the two genes therefore occur towards the centromere.
AFRIKAANSE OPSOMMING: Wilde verwante spesies is ‘n belangrike bron van nuwe gene vir die genetiese verbetering van koring. By die Universiteit van Stellenbosch is die blaar-roes en streep-roes weerstandsgene Lr54 en Yr37 vanaf Aegilops kotschyi na chromosoom 2DL van koring oorgedra. ‘n Poging is vervolgens aangewend om die vol-armtranslokasie waarop die weerstandsgene voorkom te verklein deur homoeoloë paring tussen die koring en ooreenstemmende Ae. kotschyi chromatien te induseer. Die doelstelling van hierdie studie was daarom as volg: (a) Evaluering van die verkreë toetskruis-nageslag asook die identifisering en karakterisering van translokasie rekombinante wat Lr54/Yr37 behou het. (b) Toetsing vir fotoperiode onsensitiwiteits- (Ppd) en verkorte plant-hoogte (Rht) gene wat moontlik op die translokasie kon voorkom. (c) Die ontwikkeling van ‘n volgorde-spesifieke polimerase kettingreaksie (PKR) vir die mees bruikbare rekombinant. Tien translokasie rekombinante is geïdentifiseer nadat 159 hemisigotiese toetskruis F1-plante met drie mikrosatelliet-merkers, spesifiek vir chromosoom-arm 2DL, ge-evalueer is. Die rekombinante is hierna met vyf verdere mikrosatellietmerkers getoets. Die data van die agt mikrosatelliet-loci het die rekombinante in twee grootte-kategorieë geplaas waarvan rekombinant #74 die kortste was met slegs die proksimale gedeelte van 2DL wat uit vreemde chromatien bestaan. Behalwe mikrosatellite-merkers is toevallig-geamplifiseerde polimorfiese DNS (RAPD), weerstandsgeen-analoog (RGA), geamplifiseerde volgordelengte polimorfisme (AFLP) en volgorde-gekarakteriseerde geamplifiseerde-streke (SCAR) merkers ook geneties op die translokasie gekarteer. Data van die addisionele merkers het dit moontlik gemaak om die rekombinante in drie grootte-kategorieë te skei. Pogings om ‘n merker vir die kortse rekombinant (#74) te vind, het gelei tot die omskakeling van ‘n 410 bp polimorfiese AFLP-fragment (geproduseer met die ensiem/selektiewenukleotied kombinasie EcoRI - AAC/MseI - CAT), na ‘n dominante, volgordespesifieke PKR-merker. Hierbenewens kan drie mikrosatelliet-merkers wat op rekombinant #74 karteer as resessiewe merkers vir die identifisering van Lr54/Yr37 gebruik word. Die evaluering van die 10 rekombinante met vier chromosoom 2DSspesifieke mikrosatelliet-merkers het ‘n groot delesie van chromosoom-arm 2DS in rekombinant #74 uitgewys. Die delesie mag plant fenotipiese kenmerke beïnvloed en daarom is ‘n strategie vir die vervanging daarvan in rekombinant #74 voorgestel. Ten einde te toets of ‘n geen vir fotoperiode-onsensitiwiteit op die translokaie voorkom is translokasie-draers en kontroles aan lang- en kortdag-behandelings onderwerp en is die effek hiervan op dae-tot-blom gemeet. Geen bewyse vir so ‘n geen kon gevind word nie. ‘n Hoogte-eksperiment om te toets vir die teenwoordigheid van ‘n Rht-geen op die translokasie, het bevestig dat so ‘n geen wel voorkom. Die geen (voorgestelde simbool H) is gekarteer op 2DL en verskil oënskynlik van Rht8 op chromosoom 2DS. Die verskillende chromosoom-ligging van H en Rht8 skakel egter nie die moontlikheid dat hulle ortoloë loci mag wees uit nie. Plant-hoogte data vir rekombinant #74 het daarop gedui dat H nie meer in hierdie rekombinant voorkom nie. Data van ‘n glashuis-eksperiment het daarop gedui dat die vollengte-translokasie 100-korrel-massa verhoog maar dat dit plant-opbrengs verlaag. Aangesien ‘n aansienlike korter rekombinant (#74) verkry is, sal dit ook vir gekoppelde effekte getoets moet word. So ‘n evaluering moet egter onder kommersiële toestande gedoen word met gebruik van naby isogeniese-lyne met en sonder rekombinante chromosoom #74. Die streep-roes weerstandgeen (Yr37) is gekarteer deur hemisigotiese TF2- nageslag van die 10 rekombinante te toets vir weerstand teen Puccinia striiformis patotipe 6E22A+. Rekombinant #74 het beide Lr54 en Yr37 behou en die twee gene karteer dus naby die sentromeer.
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Cockburn, David James. "Analysis of DMD translocations". Thesis, University of Oxford, 1991. http://ora.ox.ac.uk/objects/uuid:ab53825b-b18e-4f60-954a-4ea9e0435126.

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Duchenne and Becker muscular dystrophies (DMD, BMD) are allelic X-linked diseases which affect approximately one in 3500 male newborns. They are caused by mutations in a gene positioned on the short arm of the X chromosome at Xp21. The first indication of the location of this gene was the description of rare females expressing DMD and who were found to have constitutional X;autosome translocations with an X chromosome breakpoint at this site. There are now 24 such females known worldwide. They express DMD as a consequence of preferential inactivation of the normal X chromosome. In order to contribute to the understanding of the aetiology of mutations causing DMD and the aetiology of constitutional translocations, two types of study have been performed here. Firstly, the detailed mapping of the X chromosome breakpoints of DMD-associated X;autosome translocations has been investigated. The results of this study have been compared with data on the physical distribution of mutations causing DMD in male patients. Secondly, one translocation, an X;l translocation with an autosomal breakpoint at Ip34, has been selected for more detailed investigation and the DNA sequence has been determined at the site of the rearrangement. Translocation breakpoint mapping studies were performed by somatic cell hybrid analysis. Hybrids were karyotyped and this information was used to construct a hybrid panel for the purpose of determining the autosomal localisations of anonymous DNA probes. The mapping of seven probes using this panel is described. The work described in this thesis revealed that the distribution of translocation breakpoints within the DMD gene appears to be random and may differ from the distribution of mutations in male patients. The X;l translocation whose breakpoints are cloned and sequenced was found to involve two expressed loci, one coding for dystrophin on the X chromosome and one for the leukocyte antigen related protein on chromosome 1. Sequence data revealed that a deletion of four to seven nucleotides from the X chromosome and a duplication of two to five nucleotides are associated with the translocation. The possible involvement of trinucleotides adjacent to the breakpoints, and of a LINE, a SINE and a stretch of potential Z-DNA within 1 kb of the X chromosome or the chromosome 1 breakpoint, is discussed.
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Wang, Chien-Sao. "Molecular Cloning and Functional Analysis of Transposable Mercury Resistance Genes Encoded by the OCT Plasmid". Thesis, University of North Texas, 1991. https://digital.library.unt.edu/ark:/67531/metadc501216/.

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Translocation of a 17.1 kilobase region of the OCT plasmid encoding mercury resistance (mer) in Pseudomonas putida was shown to occur in a recombination-deficient host with plasmid PP1 serving as a recipient replicon. The frequency of transposition in Pseudomonas was estimated at 10^3 -10 -^2, but undetectable in Escherichia soli. ' DNA comprising all of mr as well as subregions there of were cloned and subjected to DNA sequence analysis. Like other transposons, mer was found to contain inverted repeat sequences at its termini. These were similar to, but not identical to the inverted repeat structures found in the prototypical mercury resistance transposon Tn501 from E. aeruginosa.
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Edmonds, Christopher Michael. "Computational investigations of biopolymer translocation through nanopore devices". Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/50260.

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Nanopores (1 – 10 nm diameter) constructed in solid-state membranes, have shown promise as next-generation biopolymer analysis devices offering both high resolution and high throughput. One promising application of nanopores is in the analysis of nucleic acids, such as DNA. This involves translocation experiments in which DNA is placed in an ionic solution and is forced through a nanopore with the aid of an applied electric field. The modulation of ionic current through the pore during DNA translocation can then be correlated to various properties of the biopolymer such as the length. To optimally design and operate nanopore devices, it would be advantageous to develop an accurate computer simulation methodology to predict the physics of the translocation process. Hence, I have developed a physically accurate, computationally efficient simulation methodology to predict and analyze the physics of biopolymer translocation through solid-state (silicon nitride) nanopores. The overall theme of this thesis is to use this simulation methodology to thoroughly investigate important issues in the physics underlying translocation experiments and thereby determine the effects of key structural and operation parameters, such as nanopore dimensions, applied voltage, hydrodynamic interactions, solvent viscosity, and the polymer chain length. The results from these simulation studies can assist in not only proper nanopore design, but also help determine the proper experimental environments and parameters for nanopore operation.
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Książki na temat "Translocation (Genetics)"

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Muthukumar, Murugappan. Polymer translocation. Boca Raton: Taylor & Francis, 2011.

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T, Leyden Guy, red. Genetic translocations and other chromosome aberrations. New York: Nova Biomedical Books, 2008.

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Rabkin, Charles S. Mechanisms and consequences of chromosomal translocation: Workshop proceedings : held at Airlie Conference Center, Warrenton, Virginia, October 22-24, 2006. Redaktor National Cancer Institute (U.S.). Bethesda, MD: Oxford University Press, 2008.

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Konstantinovich, Shumnyĭ Vladimir, Chadov B. F, Budashkina E. B i Institut t͡s︡itologii i genetiki (Rossiĭskai͡a︡ akademii͡a︡ nauk. Sibirskoe otdelenie), red. Ėffekt polozhenii͡a︡ gena i issledovanii͡a︡ V.V. Khvostovoĭ. Novosibirsk: Rossiĭskai͡a︡ akademii͡a︡ nauk, Sibirskoe otd-nie, In-t t͡s︡itologii i genetiki, 1992.

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Cooper, C. S. Translocations in solid tumors. Georgetown, Tex: Landes Bioscience, 2002.

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J, Kingsman A., Chater K. F i Kingsman S. M, red. Transposition: Forty-third Symposium of the Society for General Microbiology, held at the University of Warwick, April 1988. Cambridge [Cambridgeshire]: Published for the Society for General Microbiology [by] Cambridge University Press, 1988.

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Society for General Microbiology. Symposium. Transposition: Forty-third symposium of the Society for General Microbiology held at the University of Warwick, April 1988. Cambridge: Published for the Society for General Microbiology (by) Cambridge University Press, 1988.

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Craig, Patricia Parratt. Jumping genes: Barbara McClintock's scientific legacy : an essay about basic research from the Carnegie Institution of Washington. [Washington, D.C: Carnegie Institution], 1994.

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Kuncio, Gerald S. Selected abstracts on translocation and amplification of oncogenes. Bethesda, MD: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, International Cancer Research Data Bank, National Cancer Institute, 1987.

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Symposium, Society for General Microbiology. Transposition: Forty-third Symposium of the Society for General Microbiology, held at the University of Warwick, April 1988. Cambridge [Cambridgeshire]: Published for the Society for General Microbiology [by] Cambridge University Press, 1988.

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Części książek na temat "Translocation (Genetics)"

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Dandoti, Saika, i Johra Khan. "Facilitated Chromosomal Translocation with Examples". W Biotechnologies and Genetics in Plant Mutation Breeding, 85–113. New York: Apple Academic Press, 2023. http://dx.doi.org/10.1201/9781003305101-4.

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Biondi, A., A. Rambaldi, P. P. Pandolfi, M. Alcalay, L. Longo, V. Rossi, G. Giudici, F. Lo Coco i P. G. Pelicci. "Molecular Genetics of the t(15;17) Translocation in Acute Promyelocytic Leukemia". W Recent Advances in Cell Biology of Acute Leukemia, 345–59. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-84895-7_31.

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Patterson, E. B. "Translocations as Genetic Markers". W The Maize Handbook, 361–63. New York, NY: Springer New York, 1994. http://dx.doi.org/10.1007/978-1-4612-2694-9_53.

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Albertson, Donna G. "Molecular Genetics Methods in Discovery of Chromosome Structure". W Chromosomal Translocations and Genome Rearrangements in Cancer, 15–25. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2_2.

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Khalafalla, Kareim, Pallav Sengupta, Mohamed Arafa, Ahmad Majzoub i Haitham Elbardisi. "Chromosomal Translocations and Inversion in Male Infertility". W Genetics of Male Infertility, 207–19. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-37972-8_12.

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Robinson, A. S. "Genetic Sexing and Translocations in Ceratitis Capitata". W Pest Control: Operations and Systems Analysis in Fruit Fly Management, 201–10. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-642-70883-1_15.

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Golub, T. R., G. F. Barker, K. Stegmaier i D. G. Gilliland. "The TEL Gene Contributes to the Pathogenesis of Myeloid and Lymphoid Leukemias by Diverse Molecular Genetic Mechanisms". W Chromosomal Translocations and Oncogenic Transcription Factors, 67–79. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60479-9_5.

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Abeysinghe, S. S., N. Chuzhanova i D. N. Cooper. "Gross Deletions and Translocations in Human Genetic Disease". W Genome and Disease, 17–34. Basel: KARGER, 2006. http://dx.doi.org/10.1159/000092498.

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Thomas, J., Q. Chen i L. Talbert. "Genetic segregation and the detection of spontaneous wheat-alien translocations". W Developments in Plant Breeding, 327–33. Dordrecht: Springer Netherlands, 1997. http://dx.doi.org/10.1007/978-94-011-4896-2_45.

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West, Stephen C. "Formation, translocation and resolution of Holliday junctions during homologous genetic recombination". W DNA Repair and Recombination, 17–21. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0537-8_3.

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Streszczenia konferencji na temat "Translocation (Genetics)"

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"Genetic effects of alien chromosome substitution or translocation in common wheat". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-050.

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"Creation and characterization of the soft wheat line with centric translocation T2R.2D". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-072.

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"DNA import into plant mitochondria: studying of the translocation pathways in organello and in vivo". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-189.

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"The study of an introgressive common wheat line with the T3DS.3DL-3SL translocation from Ae. speltoides". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology (PlantGen2023). FRC Kazan Scientific Center RAS, Kazan, Russia;Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia, 2023. http://dx.doi.org/10.18699/plantgen2023-17.

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Puppo, I. L., Z. N. Tonyan i A. F. Sayfitdinova. "A CASE OF PREIMPLANTATION GENETIC TESTING FOR A COUPLE IN WHICH BOTH SPOUSES ARE CARRIERS OF AUTOSOMAL RECIPROCAL TRANSLOCATIONS". W I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-112.

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The paper presents the results of the preimplantation genetic testing for a couple in which both spouses are carriers of balanced autosomal translocations. The chromosome segregation pattern and individual characteristics of quadrivalents for both rearrangements were determined, and the risk of reproductive problems in a offspring who inherited a maternal translocation was assessed.
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Chen, Xiaowei, Daniel L. Worthley, Zhongming Ge, Yagnesh Tailor, Christian Kaufman, Lenzie Cheaney, Lesley Kline i in. "Abstract A100:Helicobacter hepaticuscontributes to mammary gland carcinogenesis through bacterial translocation and subsequent expansion of cancer-promoting myeloid-derived suppressor cells". W Abstracts: AACR Special Conference on Advances in Breast Cancer Research: Genetics, Biology, and Clinical Applications - October 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1557-3125.advbc-a100.

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da Silveira, Lucas A., Jose L. Soncco-Alvarez, Thaynara A. de Lima i Mauricio Ayala-Rincon. "Computing translocation distance by a genetic algorithm". W 2015 XLI Latin American Computing Conference (CLEI). IEEE, 2015. http://dx.doi.org/10.1109/clei.2015.7359994.

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"The influence of alien translocations on in vitro androgenesis in lines of spring common wheat". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-199.

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"Identification and numeration of the univalent chromosomes for cotton monosomic lines by means the tester translocations". W Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-156.

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da Silveira, Lucas A., Jose L. Soncco-Alvarez i Mauricio Ayala-Rincon. "Parallel memetic genetic algorithms for sorting unsigned genomes by translocations". W 2016 IEEE Congress on Evolutionary Computation (CEC). IEEE, 2016. http://dx.doi.org/10.1109/cec.2016.7743794.

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Raporty organizacyjne na temat "Translocation (Genetics)"

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Gutnick, David, i David L. Coplin. Role of Exopolysaccharides in the Survival and Pathogenesis of the Fire Blight Bacterium, Erwinia amylovora. United States Department of Agriculture, wrzesień 1994. http://dx.doi.org/10.32747/1994.7568788.bard.

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Fireblight, a disease of apples and pears, is caused by Erwinia amylovora. Mutants of E. amylovora that do not produce the extreacellular polysaccharide (EPS), amylovoran, are avirulent. A similar EPS, stewartan, is produced by E. stewartii, which caused Stewart's wilt of corn, and which has also been implicated in the virulence of this strain. Both stewartan and amylovoran are type 1 capsular polysaccharides, typified by the colanic acid slime produced by Escherichia coli. Extracellular polysaccharide slime and capsules are important for the virulence of bacterial pathogens of plants and animals and to enhance their survival and dissemination outside of the host. The goals of this project were to examine the importance of polysaccharide structure on the pathogenicity and survival properties of three pathogenic bacteria: Erwinia amylovora, Erwinia stewartii and Escherichia coli. The project was a collaboration between the laboratories of Dr. Gutnick (PI, E. coli genetics and biochemistry), Dr. Coplin (co-PI, E. stewartii genetics) and Dr. Geider (unfunded collaborator, E. amylovora genetics and EPS analysis). Structural analysis of the EPSs, sequence analysis of the biosynthetic gene clusters and site-directed mutagenesis of individual cps and ams genes revealed that the three gene clusters shared common features for polysaccharide polymerization, translocation, and precursor synthesis as well as in the modes of transcriptional regulation. Early EPS production resulted in decreased virulence, indicating that EPS, although required for pathogenicity, is anot always advantageous and pathogens must regulate its production carefully.
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Mengak, Michael T. Wildlife Translocation. U.S. Department of Agriculture, Animal and Plant Health Inspection Service, lipiec 2018. http://dx.doi.org/10.32747/2018.7210105.ws.

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Many people enjoy wildlife. Nationwide, Americans spend over $144 billion annually on fishing, hunting, and wildlife-watching activities. However, wildlife is not always welcome in or near homes, buildings, or other property and can cause significant damage or health and safety issues. Many people who experience a wildlife conflict prefer to resolve the issue without harming the offending animal. Of the many options available (i.e., habitat modification, exclusion, repellents) for addressing nuisance wildlife problems, translocation—capturing and moving—of the offending animal is often perceived to be effective. However, trapping and translocating wild animals is rarely legal nor is it considered a viable solution by wildlife professionals for resolving most nuisance wildlife problems. Reasons to avoid translocating nuisance wildlife include legal restrictions, disease concerns, liability issues associated with injuries or damage caused by a translocated animal, stress to the animal, homing behavior, and risk of death to the animal. Translocation is appropriate in some situations such as re-establishing endangered species, enhancing genetic diversity, and stocking species in formerly occupied habitats. The main focus of this publication, however, is to address nuisance wildlife issues that may be commonly encountered by homeowners and nuisance wildlife control professionals.
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Elbaum, Michael, i Peter J. Christie. Type IV Secretion System of Agrobacterium tumefaciens: Components and Structures. United States Department of Agriculture, marzec 2013. http://dx.doi.org/10.32747/2013.7699848.bard.

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Objectives: The overall goal of the project was to build an ultrastructural model of the Agrobacterium tumefaciens type IV secretion system (T4SS) based on electron microscopy, genetics, and immunolocalization of its components. There were four original aims: Aim 1: Define the contributions of contact-dependent and -independent plant signals to formation of novel morphological changes at the A. tumefaciens polar membrane. Aim 2: Genetic basis for morphological changes at the A. tumefaciens polar membrane. Aim 3: Immuno-localization of VirB proteins Aim 4: Structural definition of the substrate translocation route. There were no major revisions to the aims, and the work focused on the above questions. Background: Agrobacterium presents a unique example of inter-kingdom gene transfer. The process involves cell to cell transfer of both protein and DNA substrates via a contact-dependent mechanism akin to bacterial conjugation. Transfer is mediated by a T4SS. Intensive study of the Agrobacterium T4SS has made it an archetypal model for the genetics and biochemistry. The channel is assembled from eleven protein components encoded on the B operon in the virulence region of the tumor-inducing plasmid, plus an additional coupling protein, VirD4. During the course of our project two structural studies were published presenting X-ray crystallography and three-dimensional reconstruction from electron microscopy of a core complex of the channel assembled in vitro from homologous proteins of E. coli, representing VirB7, VirB9, and VirB10. Another study was published claiming that the secretion channels in Agrobacterium appear on helical arrays around the membrane perimeter and along the entire length of the bacterium. Helical arrangements in bacterial membranes have since fallen from favor however, and that finding was partially retracted in a second publication. Overall, the localization of the T4SS within the bacterial membranes remains enigmatic in the literature, and we believe that our results from this project make a significant advance. Summary of achievements : We found that polar inflations and other membrane disturbances relate to the activation conditions rather than to virulence protein expression. Activation requires low pH and nutrient-poor medium. These stress conditions are also reflected in DNA condensation to varying degrees. Nonetheless, they must be considered in modeling the T4SS as they represent the relevant conditions for its expression and activity. We identified the T4SS core component VirB7 at native expression levels using state of the art super-resolution light microscopy. This marker of the secretion system was found almost exclusively at the cell poles, and typically one pole. Immuno-electron microscopy identified the protein at the inner membrane, rather than at bridges across the inner and outer membranes. This suggests a rare or transient assembly of the secretion-competent channel, or alternatively a two-step secretion involving an intermediate step in the periplasmic space. We followed the expression of the major secreted effector, VirE2. This is a single-stranded DNA binding protein that forms a capsid around the transferred oligonucleotide, adapting the bacterial conjugation to the eukaryotic host. We found that over-expressed VirE2 forms filamentous complexes in the bacterial cytoplasm that could be observed both by conventional fluorescence microscopy and by correlative electron cryo-tomography. Using a non-retentive mutant we observed secretion of VirE2 from bacterial poles. We labeled the secreted substrates in vivo in order detect their secretion and appearance in the plant cells. However the low transfer efficiency and significant background signal have so far hampered this approach.
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Translocaties van knoflookpad in vlaanderen van 2020 t.e.m. 2022: Kweek, uitzet, genetica, translocatiestrategie en habitatgeschiktheidscriteria. Instituut voor Natuur- en Bosonderzoek, 2023. http://dx.doi.org/10.21436/inbor.99150090.

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