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Dissertations / Theses on the topic '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 & 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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Sun, Qian, and 孫倩. "Cellular and molecular mechanisms of dendritic cell differentiation from cells of leukaemic origin." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B38885335.
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Gumede, Sthembiso R. "Translocation of a polymer chain under geometric confinement." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/86630.
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Thesis (MSc)--Stellenbosch University, 2014.ENGLISH ABSTRACT: The advent of the synthesis or manufacturing of controlled structures on submicron scales as well as experimental developments enabling the investigation of physics in speci c biological systems at extremely small length scales underlines the need for dealing with the statistical physics of small systems which are geometrically con ned. A typical example of a system for which physical questions can be answered by means of theoretical modelling is the virus, where polymer genetic material is encapsulated in a protein shell. In this project the role of con nement on polymer chains will be investigated. We investigate how the translocation of polymer from one region to another through a small opening depends on various electrolytic, polymer concentration and wall interaction conditions. This is an extension of the simple, purely entropic, picture in that the interaction terms enter the picture. We employ a variational scheme in deriving our results.
AFRIKAANSE OPSOMMING: Sowel die moontlikheid van beheerbare sintese of vervaardiging van strukture op sub-mikrometer lengteskale asook die koms van eksperimentele metodes vir die ondersoek van biologiese stelsels op baie klein lengteskale onderstreep hoe nodig dit is om die statiestiese sika van klein stelsels met geometriese beperkings te verstaan. 'n Tipiese voorbeeld waar teoretiese metodes vir siese vrae aangewend word is 'n virus, waar die polimeriese genetiese materiaal in 'n proteïen skil beweeg. In die huidge projek word die rol van 'n spesi eke geometriese beperking op polimeerkettings ondersoek. Ons ondersoek hoe die oorplasing van 'n polimeer deur 'n klein opening van een gebied na die ander deur verskillende elektrolietiese, polimeer-konsentrasie en wandinteraksie eienskappe afhang. Dit is 'n uitbreiding van die eenvoudige, volledig entropiese beeld vir oorplasing deurdat wisselwerkings ingesluit word. 'n Variasiebeginsel word aangewend om die resultate af te lei.
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Hu, Xiaotong, and 胡曉彤. "Novel IGH translocations in gastric non-Hodgkin's B-cell lymphoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B38688098.
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Sharma, Sundrish. "Characterization of quantitative loci for morphological and anatomical root traits on the short arm of chromosome 1 of rye in bread wheat." Diss., [Riverside, Calif.] : University of California, Riverside, 2009. http://proquest.umi.com/pqdweb?index=0&did=1899491951&SrchMode=2&sid=1&Fmt=2&VInst=PROD&VType=PQD&RQT=309&VName=PQD&TS=1269025605&clientId=48051.
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Thesis (Ph. D.)--University of California, Riverside, 2009.Includes abstract. Title from first page of PDF file (viewed March 18, 2010). Includes bibliographical references. Issued in print and online. Available via ProQuest Digital Dissertations.
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Groenewald, Johannes Zacharias. "Tagging and mapping of prominent structural genes on chromosome arm 7DL of common wheat." Thesis, Stellenbosch : Stellenbosch University, 2001. http://hdl.handle.net/10019.1/52474.
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Thesis (PhD (Agric)) -- Stellenbosch University, 2001.ENGLISH ABSTRACT: Chromosome arm 7DL of common wheat carries genes for agronomically important traits such as leaf rust, stem rust, Russian wheat aphid and eye spot resistance. Some of these genes occur on introgressed foreign chromatin, which restricts their utility in breeding. The 7DL genetic maps are poorly resolved, which seriously hampers attempts to manipulate the genes and introgressed regions in breeding. This dissertation represents an attempt to improve our knowledge of the relative map positions of three resistance genes that have significant potential for use in local breeding programmes. The leaf rust resistance gene, Lr19, is located on a Thinopyrum ponticum-derived translocation which occupies a large part of the terminal end of 7DL. The translocation also carries genes for less favourable traits such as yellow flour colour. Attempts have been made to reduce the size of the translocation through allosyndetic pairing induction; the primary aims being to remove deleterious genes and to minimise the amount of foreign chromatin associated with Lr19 so it can be recombined with other useful 7DL genes. Twenty-nine 'Indis'-derived Lr 19 deletion mutants were previously produced by gamma irradiation and a physical map was constructed. In this study, the set of mutant lines were further analysed using 144 Sse8387I/Msei and 32 EcoRI/Msel amplified fragment length polymorphism (AFLP) primer combinations. The previous physical map, which was based on five restriction fragment length polymorphism (RFLP) markers and five structural gene loci, was extended and now includes 95 novel AFLP markers (86 Sse8387I/Msei and 9EcoRI!Msel markers), of which seven map close to Lr 19. Most of the deletions could be ordered according to size and the improved map has already been used to characterise shortened recombinant forms of the Lr 19 translocation. An unsuccessful attempt was made to convert one of the seven markers closest to Lr 19 into a sequence-specific marker. However, an AFLP marker located distally from Lr 19 was successfully converted into a sequence-specific marker in collaboration with other researchers. An attempt was also made to map and tag the Russian wheat aphid (RWA) resistance gene, Dn5. A doubled haploid mapping population consisting of 94 lines was created and typed for Dn5, four microsatellite loci and the endopeptidase locus, Ep-Dl. The Dn5 locus mapped 25.4 cM and 28.6 cM distally from Xg.vm111 and Xg.vm437, respectively, but was not linked to Xgwm428, Xgwm3 7 or Ep-Dl. Tagging of Dn5 was attempted by screening twelve homozygous resistant and seven homozygous susceptible F2 lines from a cross between 'Chinese Spring' and 'PI 294994' with 70 Sse8387IIi\1sei AFLP primer combinations. Only two potentially useful polymorphisms (one in coupling and one in repulsion phase) were identified. Conversion of the coupling phase marker to a sequence-specific marker was not successful. The eyespot resistance gene, Pchl , was derived from Triticum ventricosum and is present in the wheat VPM-1. Close association between Pchl and the endopeptidase Ep-Dlb allele has been reported previously. Pchl/Ep-Dl was tagged by screening ten wheat genotypes (each homozygous for the confirmed presence or absence of Pchl and/or Ep-Dl b) with 36 Sse83 87I/ Msei AFLP primer combinations. Three AFLP markers were closely associated with Pchl I Ep-D 1, one of which was targeted for conversion into a sequence-specific marker. The sequence-specific marker contained a microsatellite core motif and was found to be useful for tagging Pchl!Ep-Dl. A genetic distance of 2 cM was calculated between the novel microsatellite marker and Ep-Dl. The microsatellite marker was also polymorphic for the Lr 19 translocation and it was possible to map it between the Wsp-Dl and Sr25 loci. In this dissertation, mapping and/or tagging of three important resistance genes were achieved. Due to the fact that all markers used in these studies were not polymorphic between all of the targeted regions, it was not possible to fully integrate the data obtained for the three regions.
AFRIKAANSE OPSOMMING: Chromosoom arm 7DL van broodkoring dra gene vir agronomies-belangrike kenrnerke soos blaarroes, stamroes, Russiese koringluis en oogvlek weerstand. Sommige van hierdie gene kom voor in blokke spesie-verhaalde chromatien wat hul bruikbaarheid in teling beperk. Die genetiese kaarte van 7DL is swak ontwikkel en dit maak dit baie moeilik om hierdie gene en spesie-verhaalde streke tydens teling te manipuleer. Hierdie proefskrif verteenwoordig 'n paging om kennis van die relatiewe kaart liggings van drie weerstandsgene, met betekenisvolle potensiaal in plaaslike tee! programme, te verbreed. Die blaarroes weerstandsgeen, Lr 19, kom voor op 'n Thinopyrum ponticum-verhaalde translokasie wat 'n groot terminale gedeelte van 7DL beslaan. Die translokasie dra ook gene vir minder gewensde kenrnerke soos gee! meelkleur. Pogings is aangewend om die translokasie deur homoeoloe parings-induksie te verkort. Die doe! was om nadelige gene te verplaas en die hoeveelheid vreemde chromatien geassosieer met Lr 19 te minimiseer sodat dit met ander nuttige gene op 7DL gerekombineer kan word. Nege-en-twintig 'Indis'-verhaalde Lr 19 delesie mutante is vroeer met gamma bestraling geproduseer en gebruik om 'n fisiese kaart op te stel. Teenswoordig is die stel mutante verder ontleed met behulp van 144 Sse8387I!Msei en 32 EcoRII Msel amplifikasie-fragment-lengte-polimorfisme (AFLP) inleier kombinasies. Die bestaande fisiese kaart, wat gebaseer was op vyf restriksie-fragment-lengte-polimorfisme (RFLP) merkers en vyf strukturele geen loki, is uitgebrei en sluit nou 95 unieke AFLP merkers (86 Sse8387I/Msel en 9EcoRI/Msel merkers) in, waarvan sewe naby aan Lr19 karteer. Die meeste van die delesies kon op grond van hulle grootte gegroepeer word en die verbeterde fisiese kaart is alreeds gebruik om verkorte rekombinante vorms van die Lr 19 translokasie te karakteriseer. 'n Onsuksesvolle paging is aangewend om een van die sewe merkers naaste aan Lr 19 om te skakel na 'n volgorde-spesifieke merker. 'n AFLP merker wat distaal van Lr 19 karteer is egter wel suksesvol in samewerking met ander navorsers omgeskakel na 'n volgordespesifieke merker. 'n Paging is ook aangewend om die Russiese koringluis (RKL) weerstandsgeen, Dn5, te karteer en merkers gekoppel aan die geen te identifiseer. 'n Verdubbelde-haplo!ede karteringspopulasie van 94 lyne is geskep en getipeer vir Dn5, vier mikrosatelliet loki en die endopeptidase lokus, Ep-D1. Die Dn5 lokus karteer 25.4 cM en 28.6 cM distaal van Xgwml11 en Xgwm437, respektiewelik, maar was me gekoppel met Xgwm428, Xgwm37 of Ep-D1 me. Twaalf homosigoties weerstandbiedende en sewe homosigoties vatbare F2 lyne uit die kruising: 'Chinese Spring' I 'PI 294994' is met 70 Sse8387VMsel AFLP inleier kombinasies getoets in 'n poging om merkers vir Dn5 te identifiseer. Slegs twee moontlik bruikbare polimorfismes (een in koppelings- en een in repulsie fase ), is ge'identifiseer. Omskakeling van die koppelingsfase merker na 'n volgorde-spesifieke merker was onsuksesvol. Die oogvlek weerstandsgeen, Pch1, is uit Triticum ventricosum oorgedra en kom voor in die koringlyn, VPM-1. Noue koppeling van Pch1 en die endopeptidase alleel, Ep-D1 b, is vantevore gerapporteer. Merkers is vir P chl I Ep-D 1 gevind deur tien koring genoti pes ( elkeen homosigoties vir die bevestigde teenwoordigheid of afwesigheid van Pch1 en/of Ep-D1 b) te toets met 36 Sse83871/kfsel AFLP inleier kombinasies. Drie AFLP merkers is gevind wat nou koppel met Pchl!Ep-D1 , waarvan een gekies is vir omskakeling na 'n volgorde-spesifieke merker. Die volgorde-spesifieke merker het 'n mikrosatelliet kernmotief bevat en was nuttig as merker vir Pch1/Ep-D1. 'n Genetiese afstand van 2 cM is tussen die unieke mikrosatelliet merker en Ep-D1 bereken. Die mikrosatelliet merker was ook polimorfies vir die Lr 19 translokasie en dit is tussen die Wsp-D1 en Sr25 loki gekarteer. Kartering en/of identifikasie van merkers vir drie belangrike weerstandsgene was suksesvol in hierdie studie. Omdat al die merkers wat gebruik is, nie polimorf was tussen al die streke van belang nie, was dit nie moontlik om die data vir elk van die drie streke ten volle te integreer nie.
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Drummelsmith, Jolyne. "The genetics, biosynthesis and translocation of group 1 capsules in gram-negative bacteria." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0016/NQ55623.pdf.
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Bekker, Tamrin Annelie. "Molekulere karakterisering van 'n Aegilops speltoides verhaalde translokasie en verkorte vorms." Thesis, Stellenbosch : University of Stellenbosch, 2009. http://hdl.handle.net/10019.1/1854.
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Thesis (MSc (Genetics))--University of Stellenbosch, 2009.Gene transfer from wild gras species to wheat is complicated by the simultaneous integration of large amounts of alien chromatin. The alien chromatin containing the target gene is inherited as a linkage block and the phenomenon is known as linkage drag. The degree of linkage drag depends on whether, and how readily, recombination occurs between the foreign and wheat chromatin. The S13 translocation line was developed by the department of Genetics, US. A cross was made between Chinese Spring and a leaf rust resistant Aegilops speltoides accession. Resistant backcross F1 was backcrossed to Chinese Spring and W84-17. S13 was selected from the backcross progeny and found to carry three rust resistance genes temporarily named LrS13, SrS13 and YrS13. Unfortunately, the resistance genes were completely linked to gametocidal (Gc) genes that were co-transferred from the wild parent. In wheat Gc genes cause reduced fertility, poor plant phenotype and hybrid necrosis. In order to use employ the rust resistance genes commercially they need to be separated from the Gc genes. At the onset of this study four putative shortened forms of the S13 translocation were provided. The four lines were identified in a homoeologous paring induction experiment (involving the test cross 04M127). This study aimed to achieve the following: (i) characterize the four recombinants with the use of molecular markers, (ii) use the knowledge gained to identify further recombinants in the 04M127 cross, (iii) identify the shortest (most useful) recombinant, and (iv) attempt to shorten the shortest recombinant form still further and thereby remove as many of the Gc genes as possible. In total, seven recombinants of the S13 translocation (04M127-1, -2, -3, -4, -7, -11 and -12; referred to as recombinant group A) were identified and characterised with microsatellite and SCAR markers. These recombinants have exchanged different amounts of foreign chromatin for wheat chromatin, but were still associated with Gc genes, showing hybrid necrosis and seed shrivelling. Some of the recombinants have lost the undesirable „brittle rachis‟ phenotype which occurs in Ae. speltoides and the S13 translocation line. In plants VII having this trait, the rachis spontaneously disarticulates after the third spikelet upon ripening of the ear. Recombinant 3 appeared to be least affected by Gc genes and was therefore used in further attempts to shorten the translocation. Recombinant 3 was crossed with wheat (W84-17) and resistant F1 (heterozygous for the translocation) were test crossed with Chinese Spring nullisomic 3A tetrasomic 3B/D plants. Thirty five resistant testcross F1 plants were identified (named recombinant group B). The resistant group B recombinants as well as nine susceptible test cross F1 (which also appeared to be recombinant) were characterised making use of microsatellites and a SCAR marker. From the results it appeared that each of the 35 resistant plants exchanged substantial amounts of Ae. speltoides chromatin for wheat chromatin. The species chromatin that remained (and which contains LrS13) is probably located either close to the 3AS telomere or within the proximal regions of 3AS and 3AL. A SCAR marker that has been developed specifically for the S13 translocation provided useful confirmation of the presence of Ae. speltoides chromatin in the 35 recombinants. If the SCAR marker proves to be tightly linked to LrS13 it may eventually be used for marker assisted selection of the resistance or it may be employed in continued attempts to reduce the amount of foreign chromatin. Seedling rust resistance tests showed that the recombinants have lost SrS13 and YrS1 during recombination. An attempt was also made to develop additional markers that specifically detect the translocation in order to further characterise the group B recombinants. Published information on Ae. speltoides specific repeated and transposon sequences were obtained and used for primer design. Unfortunately, no suitable markers could be found and the primers that were designed tended to amplify the same fragments in both the wheat and species genomes. DArT markers were also employed in an attempt to characterise the 35 group B recombinants and controls. The DArT results provided an independent verification of the results obtained with the microsatellite markers. The DArT results confirmed that the group B recombinants exchanged large amounts of species chromatin for wheat chromatin. Even though the 35 resistant group B recombinants have undergone extensive recombination they still show signs of residual Gc effects. It is believed these effects can be removed by continued backcrossing to wheat accompanied by selection against Gc symptoms. While the effects of Gc genes per se were not studied, their properties were reminiscent of those of transposable elements. Indications were that complex interactions involving the Gc genes themselves as well as genetic factors in the wheat genome may have a drastic effect on the selective survival of recombinant gametes.
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Manara, Richard. "Free energy calculations of DNA translocation through protein nanopores and nanopore design for DNA sequencing." Thesis, University of Southampton, 2015. https://eprints.soton.ac.uk/374791/.
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DNA sequencing has vastly opened up the world of molecular biology, leading to new areas of interest, especially in medical research. Unfortunately the methods of DNA sequencing have only ever seen gradual improvements, as Sanger sequencing is still very much the norm despite its high cost and slow speed. Nanopores present an exciting opportunity for DNA sequencing, however, despite the concept being presented in 1996 several problems have prevented the creation of a publicly available sequencing device. The two main focuses of research into nanopores so far have been improving the resolution between bases and the slowing down of DNA translocation through the pore so modern ammeters can read the sequence accurately. The simulation work presented in this thesis largely focuses on the energetics associated with DNA translocation. This is performed in several parts; an investigation into the probability of pore entry, study into the free energy of translocation for two proteins in addition to solvent contribution to this free energy, finally a theoretical project was undertaken to investigate bottom up nanopore design.
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Lo, Yee-nga, and 盧懿雅. "Effect of t(11;14)(p13;q32) translocation on the expression of PDHX, the telomeric gene on chromosome 11p13, in mature B-cell malignancies." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46632505.
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Cottrell, Catherine Elise. "Genetic variation and complex disease the examination of an X-linked disorder and a multifactorial disease /." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1196182829.
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Williams, Gordon. "Increased hexosamine biosynthetic pathway flux impairs myocardial GLUT4 translocation." Thesis, Stellenbosch : University of Stellenbosch, 2009. http://hdl.handle.net/10019.1/2893.
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Thesis (MSc (Physiological Sciences))--University of Stellenbosch, 2009.Aims and Background: According to the World Health Organization type 2 diabetes will constitute a major global burden of disease within the next few decades. In agreement, reports show that rapid urbanization and lifestyle changes in South Africa are major factors responsible for these projections. Therefore, any perturbations that alter the regulatory steps that control myocardial glucose uptake by the cardiac-enrich glucose transporter, GLUT4, will lead in the development of diabetic cardiomyopathy and cardiac hypertrophy. Although considerable efforts are been put into unraveling molecular mechanisms underlying this process, less is known regarding the spatio-temporal regulation of GLUT4. In light of this, our specific aim was to establish in vitro fluorescence microscopy- and flow cytometry-based models for visualization and assessment of myocardial GLUT4 translocation using H9c2 cardiac-derived myoblasts. After successful establishment of our in vitro-based model for myocardial GLUT4 translocation, our second aim was to determine the role of the hexosamine biosynthetic pathway (HBP) in this process. Here, we employed HBP modulators to alter flux and subsequently evaluate its effect on myocardial GLUT4 translocation. To further strengthen our hypothesis, we also investigated the role of the HBP in hearts of an in vivo type 2 diabetes mouse model. Hypothesis: We hypothesize that increased flux through the HBP impairs myocardial GLUT4 translocation by greater O-linked glycosylation of the insulin signaling pathway, ultimately leading to myocardial insulin resistance. Methods: Rat cardiac-derived H9c2 myoblasts were cultured until ~ 80-90 % confluent for 3 days and thereafter subcultured in Lab-Tek chamber slides (~ 15, 000 cells per well) for 24 hours. Cells were then serum starved for 3 hours by insulin administration of 100 nM for 0, 5 and 30 minutes, respectively. We employed a method to quantify the relative proportion of GLUT4 at the sarcolemma using immunofluorescence microscopy- and flow cytometry-based models for visualization and assessment of myocardial GLUT4 translocation. Using these methods we investigated the role HBP have during GLUT4 translocation. The HBP were then activated through the following: a) high glucose and glutamine concentrations; b) low glucose and glucosamine stimulation; and c) over-expression of the HBP rate- limiting enzyme, i.e. GFAT. Subsequently, cardiac-derived myoblasts were fixed and probed for ~ 24 hours with antibodies specific for intracellular- and membrane-bound GLUT4, anti-myc GLUT4 (9E10) and O-GlcNAc. To assess GLUT4 translocation and O-GlcNAcylation we employed the following secondary antibodies: FITC Green for intracellular-bound GLUT4; and b) Texas Red for membrane-bound GLUT4 (immunofluorescence microscopy) and Phycoerythrin for flow cytometry-based model. Cells were thereafter viewed by multi-dimension imaging using an inverted system microscope (Olympus IX81) and a BD FACS Aria cell sorter for flow cytometric analysis. We also assessed HBP in an in vivo context by probing heart tissue - from insulin resistant db/db mice - with a GFAT monoclonal antibody. Results: The db/db mouse represents an ideal model to confirm our hypothesis in an in vivo context. In agreement, our preliminary results show increased GFAT expression versus heterozygous db/+ controls. Our in vitro model show myocardial GLUT4 translocation at 5 minute peak response when H9c2 cardiac-derived myoblasts were stimulated with 100 nM insulin, and GLUT4 vesicles return to normal after longer insulin stimulatory times (10, 15 and 30 minutes. Myocardial Glut4 v translocation was impaired when cells were stimulated with 100 nM wortmannin. Our transfection based model (immunofluorescence microscopy- and flow cytometry-based models) confirms 5 minute peak response under real time conditions. High glucose concentration (25 mM glucose), glucosamine concentrations (2.5 mM, 5 mM, and 10 mM) and over-expression of GFAT led to an impairment of myocardial GLUT4 translocation. Employment of an HBP activator (50 μM PUGNAc) also caused impairment of myocardial GLUT4 translocation. Myocardial GLUT4 translocation was restored when cells were treated with an HBP inhibitor (40 μM DON). High glucose concentrations (25 mM glucose), glucosamine concentrations (2.5 mM, 5 mM, and 10 mM) and over-expression of GFAT resulted in an increase in O-GlcNAcylation. HBP activation (50 μM PUGNAc) showed an increase in O-GlcNAcylation, while administration of 40 μM DON reversed this effect. Discussion and conclusion: We successfully established an in vitro experimental system to assay myocardial GLUT4 translocation. Our data show that dysregulated flux through the HBP impairs myocardial GLUT4 translocation. It is likely that the HBP becomes dysregulated during the pre-diabetic/early diabetic state and that O-GlcNAcylation of members of the insulin signaling pathway occurs during this stage. This will lead to myocardial insulin resistance, and in the long term, will contribute to the onset of the diabetic cardiomyopathy. Investigations to find unique inhibitors of this maladaptive pathway should therefore result in the development of novel therapeutic agents that will lead to a reduction in the growing global burden of disease for type 2 diabetes and associated cardiovascular diseases.
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Sun, Qian. "Cellular and molecular mechanisms of dendritic cell differentiation from cells of leukaemic origin." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38885335.
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Hu, Xiaotong. "Novel IGH translocations in gastric non-Hodgkin's B-cell lymphoma." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38688098.
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Deuve, Jane Lynda. "Cytosystematics, sex chromosome translocations and speciation in African mole-rats (Bathyergidae: Rodentia)." Thesis, Link to the online version, 2008. http://hdl.handle.net/10019/821.
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Houalla, Tarek. "Nuclear translocation in the Drosophila eye disc : an inside look at the role of misshapen and the endocytic-recycling traffic pathway." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111894.
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The main focus of my PhD studies was aimed at understanding the general mechanism of nuclear translocation and isolating novel components of the nuclear translocation pathway in neurons. Using the Drosophila visual system as an in vivo model to study nuclear motility in developing photoreceptor cells (R-cells), I have identified a novel role for the Ser/Thr kinase Misshapen (Msn) and the endocytic trafficking pathway in regulating the nuclear translocation process.The development of R-cells in the Drosophila eye disc is an excellent model system for the study of nuclear motility owing to its monolayer organization and the stereotypical translocation of its differentiating R-cell nuclei along the apical-basal plane. Prior to my thesis work, several laboratories had identified dynein and its associating proteins in R-cell nuclear translocation, however nothing was known about the signalling pathway that controlled their function in nuclear migration. Thus, one of my thesis goals was to elucidate the signalling mechanism controlling nuclear translocation in R-cells.
Using a combination of molecular and genetic approaches, I identified Msn as a key component of a novel signalling pathway regulating R-cell nuclear translocation. Loss of msn causes a failure of R-cell nuclei to migrate apically. Msn appears to control R-cell nuclear translocation by regulating the localization of dynein and Bicaudal-D (Bic-D). My results also show that Msn enhances Bic-D phosphorylation in cultured cells, suggesting that Msn regulates R-cell nuclear migration by modulating the phosphorylation state of Bic-D. Consistently, my results show that a Bic-D-phosphorylation-defective mutation disrupted the apical localization of both Bic-D and dynein. I propose a model in which Msn induces the phosphorylation of Bic-D, which in turn modulates the activity and/or subcellular localization of dynein leading to the apical migration of R-cell nuclei.
In addition to studying Msn, I have also searched for additional players in R-cell nuclear migration. From a gain-of-function approach, I found that the misexpression of the GTPase-activating-protein (GAP) RN-Tre caused a severe defect in R-cell nuclear migration. Since mammalian RN-Tre is involved in negatively regulating Rab protein activity, I speculated that the RN-Tre misexpression phenotype reflected a role for Rab-mediated vesicular transport in regulating R-cell nuclear migration. I systematically examined the potential role of Rab family proteins in R-cell nuclear migration and found that interfering with the function of Rab5, Rab11 or Shibire caused a similar nuclear migration phenotype. I propose that an endocytic pathway involving these GTPases is required for the targeting of determinants to specific subcellular locations, which in turn drive the apical migration of R-cell nuclei during development.
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Nevin, Debra Ellen. "The development of in vitro and in vivo T7-specific high level gene expression systems for use in the study of protein translocation in Escherichia coli." Thesis, University of Liverpool, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.291954.
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Wake, Naomi Catherine. "Identification and functional analysis of a novel renal cell carcinoma (RCC) susceptibility gene from an RCC associated constitutional chromosomal translocation." Thesis, University of Birmingham, 2013. http://etheses.bham.ac.uk//id/eprint/3964/.
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Familial renal cell carcinoma (RCC) only accounts for 3% of all RCC, yet the study of these inherited forms has provided important insights into the more common sporadic RCC. Somatic VHL inactivation is found in 70% of sporadic clear cell RCC (ccRCC) though is rarely found in other forms of RCC including papillary and chromophobe types. VHL-independent RCC tumourigenesis is poorly understood and current research involves identifying novel RCC candidate genes to further understand the mechanisms involved. In this study a constitutional balanced translocation, t(5;19)(p15.3;q12), associated with familial RCC was characterised using an oligonuleotide CGH array followed by genomic sequencing and the previously uncharacterised gene, UBE2QL1, was found to be disrupted by the 5p15.3 breakpoint. UBE2QL1 expression was down-regulated in 78.6% of sporadic RCC and UBE2QL1 promoter region hypermethylation and gene deletions were detected in 20.3% and 17.3% of sporadic RCC, respectively. Re-expression of UBE2QL1 in deficient RCC cell lines suppressed anchorage independent growth and colony formation. UBE2QL1 shows homology to the E2 class of ubiquitin conjugating enzymes and was shown to possess an active-site cysteine (C88) that is monoubiquitinated in vivo. In addition, UBE2QL1 co-immunoprecipitation and co-localisation studies demonstrated a protein interaction with FBXW7 (an F box protein for the SCF E3 ubiquitin ligase) and was shown to facilitate the degradation of the known FBXW7 substrates, cyclin E1 and mTOR. These findings demonstrate that UBE2QL1 functions as a novel renal tumour suppressor gene and ubiquitin conjugating enzyme.
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Pan, Feng. "Understanding Ten-Eleven Translocation-2 in Hematological and Nervous Systems." FIU Digital Commons, 2014. http://digitalcommons.fiu.edu/etd/1925.
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I proposed the study of two distinct aspects of Ten-Eleven Translocation 2 (TET2) protein for understanding specific functions in different body systems.
In Part I, I characterized the molecular mechanisms of Tet2 in the hematological system. As the second member of Ten-Eleven Translocation protein family, TET2 is frequently mutated in leukemic patients. Previous studies have shown that the TET2 mutations frequently occur in 20% myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN), 10% T-cell lymphoma leukemia and 2% B-cell lymphoma leukemia. Genetic mouse models also display distinct phenotypes of various types of hematological malignancies. I performed 5-hydroxymethylcytosine (5hmC) chromatin immunoprecipitation sequencing (ChIP-Seq) and RNA sequencing (RNA-Seq) of hematopoietic stem/progenitor cells to determine whether the deletion of Tet2 can affect the abundance of 5hmC at myeloid, T-cell and B-cell specific gene transcription start sites, which ultimately result in various hematological malignancies. Subsequent Exome sequencing (Exome-Seq) showed that disease-specific genes are mutated in different types of tumors, which suggests that TET2 may protect the genome from being mutated. The direct interaction between TET2 and Mutator S Homolog 6 (MSH6) protein suggests TET2 is involved in DNA mismatch repair. Finally, in vivo mismatch repair studies show that the loss of Tet2 causes a mutator phenotype. Taken together, my data indicate that TET2 binds to MSH6 to protect genome integrity.
In Part II, I intended to better understand the role of Tet2 in the nervous system. 5-hydroxymethylcytosine regulates epigenetic modification during neurodevelopment and aging. Thus, Tet2 may play a critical role in regulating adult neurogenesis. To examine the physiological significance of Tet2 in the nervous system, I first showed that the deletion of Tet2 reduces the 5hmC levels in neural stem cells. Mice lacking Tet2 show abnormal hippocampal neurogenesis along with 5hmC alternations at different gene promoters and corresponding gene expression downregulation. Through the luciferase reporter assay, two neural factors Neurogenic differentiation 1 (NeuroD1) and Glial fibrillary acidic protein (Gfap) were down-regulated in Tet2 knockout cells. My results suggest that Tet2 regulates neural stem/progenitor cell proliferation and differentiation in adult brain.
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Verter, Erol. "TEL/ABL pathogenesis chronic myelogenous leukemia and small bowel syndrome /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23230.
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Wilson, Jamie Jo. "Production of wheat-Haynaldia villosa Robertsonian chromosomal translocations." Thesis, Manhattan, Kan. : Kansas State University, 2008. http://hdl.handle.net/2097/1085.
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Dunken, Paula S. "Population Genetics of Greater Sage-Grouse in Strawberry Valley, Utah." BYU ScholarsArchive, 2014. https://scholarsarchive.byu.edu/etd/5317.
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This study examined population genetics of greater sage-grouse (Centrocercus urophasianus) in Strawberry Valley, Utah located in the north-central part of the state. The Strawberry Valley population of sage-grouse experienced a severe population decline with estimates of abundance in 1998 less than 5% (~150 individuals) of similar estimates from the 1930s (>3,000 individuals). Given the population decline and reduced genetic diversity, recovery team partners translocated sage-grouse from four different populations into Strawberry Valley over 6 years (2003-2008). Translocations have been used as a strategy to increase both population size and genetic diversity in wildlife populations. We assessed whether genetic diversity increased following the translocation of sage-grouse into Strawberry Valley by looking at both nuclear and mitochondrial DNA indices. We observed an overall increase of 16 microsatellite alleles across the 15 loci studied (x̅ =1.04 alleles per locus increase, SE ± 0.25). Haplotype diversity increased from 4 to 5. Levels of genetic diversity increased for both nuclear and mitochondrial DNA (16% and 25% increases for allelic richness and haplotype diversity, respectively). These results show that translocations of greater sage grouse into a wild population can be an effective tool to increase not only population size but also genetic diversity.Second, we studied fitness-related traits and related them to genetic diversity indices in a population of greater sage-grouse in Strawberry Valley, Utah from 2005 to 2013. We captured 93 sage-grouse in Strawberry Valley and fitted them with a radio collar and drew and preserved blood. We monitored sage-grouse weekly, throughout each year. From blood, we extracted and amplified DNA with 15 microsatellite loci. We determined genetic diversity as multilocus heterozygosity and mean d2. To determine if there was a relationship between genetic diversity and survival, we used known-fate models in Program MARK. We also determined if there was a relationship between genetic diversity measures and nest initiation, nest success, clutch size, and number of eggs hatched using generalized linear models where reproductive measures were modeled as a function of genetic diversity. We found no significant relationship between mean d2 and microsatellite heterozygosity with measures of survival or reproductive fitness. Overall, these results suggest that the often-reported strong heterozygosity-fitness correlations detected in small, inbred populations do not reflect a general phenomenon of increasing individual survival and reproductive fitness with increasing heterozygosity.
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Badenhorst, Pieter Engelbertus. "Poging om die Aegilops sharonensis-verhaalde Lr56/Yr38 koringtranslokasie te verkort." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/3083.
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Zeyl, Clifford. "Sex, parasitic DNA and adaptation in experimental populations of Saccharomyces cerevisiae and Chlamydomonas reinhardtii." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=40475.
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The widespread occurrence among eukaryotes of sex and of mobile DNA sequences requires an evolutionary explanation, since both appear to reduce individual fitness. Both phenomena have been hypothesized to provide fitness advantages to populations, but such explanations require rather than explain the initial establishment of mobile elements and genes for sex. Genes encoding sexuality may invade asexual populations as molecular parasites, whose success then allows mobile elements to spread as parasites of sexual genomes. The prediction that mobile elements can invade only sexual populations was tested using isogenic sexual and asexual populations of Saccharomyces cerevisiae and the retrotransposon Ty3. Active Ty3 elements more consistently invaded sexual than asexual populations. In subsequent experiments involving selection on media containing ethanol as a carbon source or $ beta$-glycerophosphate as a limiting phosphorus source, transposition by galactose-induced Ty3 elements produced none of the mutations involved in adaptation to these media, and conferred no adaptive advantage among competing populations. The mean copy numbers of two mobile elements were unchanged by long-term sexual or asexual propagation of Chlamydomonas reinhardtii populations, because transposition by these elements occurred very rarely or had no effect on fitness. Sexual and asexual S. cerevisiae populations did not differ in their adaptation to galactose media, but sexual populations maintained on glucose had higher growth rates on both media than did asexual populations maintained on glucose, implying that selection against deleterious mutations was more effective in sexual populations.
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Soto-Calderon, Ivan D. "Evolution of Nuclear Integrations of the Mitochondrial Genome in Great Apes and their Potential as Molecular Markers." ScholarWorks@UNO, 2012. http://scholarworks.uno.edu/td/1510.
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The mitochondrial control region (MCR) has played an important role as a population genetic marker in many taxa but sequencing of complete eukaryotic genomes has revealed that nuclear integrations of mitochondrial DNA (numts) are abundant and widespread across many taxa. If left undetected, numts can inflate mitochondrial diversity and mislead interpretation of phylogenetic relationships. Comparative analyses of complete genomes in humans, orangutans and chimpanzees, and preliminary studies in gorillas have revealed high numt prevalence in great apes, but rigorous comparative analyses across taxa have been lacking.
The present study aimed to systematically compare the evolutionary dynamics of MCR numts in great apes. Firstly, an inventory numts derived from the region containing the MCR subdomains was carried out by genomic BLAST searches. Secondly, presence/absence of each candidate numt was determined in great ape taxa to estimate numt insertion rate. Thirdly, alternative mechanisms of numt insertion, either through direct mitochondrial integration or post-insertional duplications, were also assessed. Fourthly, the effect of nuclear and mitochondrial environment on patterns of nucleotide composition and substitution was assessed through sequence comparisons of nuclear and mitochondrial paralogous sequences. Finally, numts in the gorilla genome were identified through two experimental methods and their use as polymorphic genetic markers was then evaluated in a sample of captive gorillas from U.S. zoos.
A deficit of MCR numts covering two particular mitochondrial subdomains was detected in all three apes examined, and is largely attributed to rapid loss of mitochondrial and nuclear sequence identity in the mitochondrial genome. Insertion rates have varied during the great ape evolution and exhibit substantial differences even between related taxa. The most likely mechanism of numt insertion is direct mitochondrial integration through Non-Homologous-End-Joining Repair. Transition/transversion ratios differed significantly between both mitochondrial and nuclear sequences and between numts from coding and non-coding mitochondrial regions. A previously documented upward bias in the GC content of the primate mitochondrial genome was confirmed and the extent of this bias relative to the corresponding numt sequences increased with numt age. Five gorilla-specific numts were isolated, including three exhibiting insertional polymorphisms that will be used in future population genetic studies in free-range gorilla.
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Watson, Andrew. "Effect that the t(1;11) translocation and mental disorders have on glutamate and NAA levels in the prefrontal lobe, as measured by MRS." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/31362.
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1H-Magnetic Resonance Spectroscopy (MRS) is a MRI paradigm that allows the levels of specific metabolites to be estimated in vivo [1]. This means that insights into the biochemical changes associated with a rare genetic change that raises the risk of mental disorders, and the impact of having a mental disorder, can potentially be made. In this study the levels of glutamate and N-acetyl-aspartate (NAA) were measured at 3T field strength in three separate voxels: right dorsolateral prefrontal cortex (DLPFC), left DLPFC and the anterior cingulate cortex (ACC). This thesis reports that members of a family that carry a unique t(1;11)(q42.2;q14) translocation that affects DISC1 have a substantially raised risk of developing a range of mental disorders, including bipolar affective disorder, schizophrenia and depression. A genetic change that leads to an increase in the susceptibility to a range of mental disorders is in line with other genetic studies that have been recently reported [2, 3]. The translocation was associated with a significant reduction in right DLPFC glutamate (mean difference= -2.11, CI= -0.24: -3.98, p=0.029) and left DLPFC NAA (mean difference= -1.97, CI= -0.34: -3.61, p=0.020). Changes in these metabolites offer some support to studies in cells and rodents trying to understand the impact of the t(1;11) translocation. More specifically the results offer support to studies that have linked alterations in DISC1's molecular biology to changes in glutamate receptors and mitochondrial function [4-6]. The results need to be interpreted with some caution due to the small sample size and the lack of a significant effect in the bilateral DLPFCs. People with a major mental disorder were also found to have significantly lower levels of glutamate in the left DLPFC (F=3.16, p=0.047). When compared to controls the reductions were significant in the people with a diagnosis of schizophrenia (mean difference= -0.86, CI= -0.19: -1.51, p=0.012), but not in people with bipolar affective disorder. Glutamate levels were significantly correlated with negative symptoms in people with schizophrenia (SANS r= -0.44, CI= -0.07: - 0.70, p= 0.024). The effect of experiencing depressive symptoms was also evaluated due to support for a link in previous studies [7, 8]. Whist the participants were not recruited due their experience of depressive symptoms, metabolite levels were found to be significantly associated with depressive symptoms in all participants with a mental disorder (all three voxels, both NAA and glutamate p < 0.05). The experience of depressive symptoms is not the same experiencing a depressive episode though, and further work may offer more insights into the association between metabolite changes and experience of depression. These findings provide insights into the relationship between diagnosis, current psychopathology and genetic risk in major mental disorders. The thesis provides some support that MRS imaging can be used to try understand neurobiological changes that are associated a genetic change, which is in turn linked to range of mental disorders. Interpreting the results of MRS imaging studies in humans remains challenging due to the complexity of the molecular biology that underpins the estimated metabolite levels, but where there has been a wide range of translational study into a specific protein (or genetic change) MRS may offer further information to help understand any effect in vivo.
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Kile, Joanna L. (Joanna Le). "The Reproductive Consequences of Carriers of Methylenebisacrylamide-Induced Balanced Reciprocal Translocations in Mus Musculus." Thesis, University of North Texas, 1989. https://digital.library.unt.edu/ark:/67531/metadc500402/.
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N,N'-methylenebisacrylamide (MBA) was studied because of its effectiveness in inducing heritable translocations in germ cells of male mice. The health impact of translocations was studied through anatomical analysis of the progeny of semisterile translocation carriers. As expected, the semisterility of translocation carriers resulted primarily from embryonic death during periimplantation stages due to unbalanced chromosome sperm segregants. Among conceptuses that survived to mid- and late-gestation stages, there was an increased incidence of developmental anomalies including fetal death and phenotypic defects. These abnormalities are associated with unbalanced chromosome complements that allow survival to the later stages of development.
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Garcia-Castillo, Maria Daniela. "Mechanisms of Endosomal Membrane Translocation Leading to Antigen Cross-presentation." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T075.
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Dans l'introduction, diverses voies de trafic intracellulaire et endocytose seront discutées. Je familiarise le lecteur avec des protéines inactivant les ribosomes, en mettant l'accent sur la structure, l'endocytose, et le trafic intracellulaire de la toxine bactérienne Shiga toxin (STX). STx et la ricine suivent la voie rétrograde pour exercer leur effet toxique sur les cellules. Ils sont respectivement, une menace maladie infectieuse pour la santé humaine et des outils potentiels pour le bioterrorisme pour lequel aucun antidote n’existe actuellement. D'un criblage à haut débit, Retro-1 et Retro-2 avaient déjà été identifiés comme de puissants inhibiteurs de la voie rétrograde à l'interface des endosomes précoces-TGN, et Retro-2 a été démontré pour protéger les souris contre la ricine. Parmi les facteurs de trafic analysés, seule la protéine SNARE syntaxine-5 a été ré- localisée dans les cellules traitées avec Rétro - 2In the introduction, various endocytic and intracellular trafficking pathways will be discussed. I acquaint the reader with ribosome-inactivating proteins, with emphasis on the structure, endocytosis, and intracellular trafficking of the bacterial toxin Shiga toxin (STx). STx and ricin follow the retrograde route to exert their toxic effect on cells. They are respectively, an infectious disease threat to human health and potential tools for bioterrorism for which no antidote currently exists. From a high throughput screening, Retro-1 and Retro-2 had previously been identified as potent inhibitors of the retrograde route at the early endosomes-TGN interface, and Retro-2 was demonstrated to protect mice against ricin. Of the trafficking factors analyzed, only the SNARE protein syntaxin-5 was re-localized in Retro-2 treated cells. Yet, whether syntaxin-5 is the direct target of Retro-2 and whether its re-localization was directly responsible for retrograde transport inhibition remained to be established
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Törnkvist, Maria. "Synovial sarcoma : molecular, biological and clinical implications /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-024-9/.
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Jiang, Fenglei. "Structure/function mapping studies of the E. coli YIDC." Connect to this title online, 2003. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1055436619.
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Thesis (Ph. D.)--Ohio State University, 2003.Title from first page of PDF file. Document formatted into pages; contains xv, 119 p. ; also includes graphics (some col.). Includes bibliographical references (p.111-119). Available online via OhioLINK's ETD Center
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Camiña, Tato Montserrat. "Estudio del papel de los genes perforin 1 (PRF1), caspase 8 (CASP8) y B-cell translocation gene 1 (BTG1) en esclerosis múltiple." Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/399348.
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El estudio de las bases genéticas de las enfermedades es clave para un diagnóstico mejor y más rápido de las patologías así como, para su mejor tratamiento. En los últimos años se han descubierto un gran número de genes que pueden generar susceptibilidad a la EM, sin embargo, hay muchos que aún están pendientes de replicación en otras poblaciones.
El objetivo principal de esta tesis es la confirmación de la participación en la susceptibilidad a padecer EM de tres genes. En concreto se trata de los genes PRF1, CASP8 y BTG1.
Tras realizar genotipado de SNPs por discriminación alélica y estudios de expresión mediante microarrays, entre otras técnicas, se han obtenido resultados que apuntan a que los tres genes podrían participar de forma moderada en la susceptibilidad a padecer EM.
En el caso del gen PRF1 se observa una fuerte asociación entre éste y la susceptibilidad a padecer la enfermedad, sobre todo en hombres con formas de EMPP.
Los resultados para el gen CASP8 muestran asociación entre este gen y la susceptibilidad a padecer la enfermedad en formas de EMPP. También se observa una asociación entre CASP8 y la progresión del curso de la enfermedad.
Por último, los resultados para el gen BTG1 muestran también asociación entre este gen y la susceptibilidad a padecer la enfermedad en formas de EMRR/SP.The study of the genetic basis of the diseases is key not only for a better and fast diagnostic of the diseases, but also for a better treatment. In recent years, many genes that confer susceptibility to MS have been discovered; however, many remain yet to be replicated in other populations. The main objective of this doctoral thesis is to confirm the involvement of the following genes in the susceptibility to MS: PRF1, CASP8 and BTG1. After performing SNP genotyping by allelic discrimination and expression studies by microarrays, among other studies, our results indicate that the three genes may contribute in a modest way to the susceptibility to MS. In the case of the PRF1 gene, we observed a strong association between this gene and the susceptibility to MS, mainly in males with PPMS forms. The results with the CASP8 gene suggest an association between this gene and the susceptibility to MS in patients with PPMS. In addition, we observed an association between the CASP8 gene and the course of MS. Finally, the results with the BTG1 gene suggest an association between this gene and the susceptibility to suffer MS in forms with relapse-onset course.
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Chan, David Wai 1968. "The role of EWS/FLI-1 fusion gene in Ewing's sarcoma." Monash University, Institute of Reproduction and Development, 2001. http://arrow.monash.edu.au/hdl/1959.1/8307.
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Lui, Weng-Onn. "Approaches for the localization and identification of human cancer genes /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-315-5/.
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Cottrell, Catherine E. "Genetic variation and complex disease: the examination of an X-linked disorder and a multifactorial disease." The Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=osu1196182829.
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Diesel, Francielli. "Investigação da tolerância de Borreria latifolia (Aubl) e Richardia brasiliensis (Gomes) a Glyphosate e competitividade com a cultura da soja." Universidade Tecnológica Federal do Paraná, 2016. http://repositorio.utfpr.edu.br/jspui/handle/1/2247.
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CAPESEspécies de plantas daninhas tolerantes aos herbicidas estão amplamente disseminadas em todas as regiões brasileiras. O objetivo desta pesquisa foi ampliar as informações sobre espécies/biótipos da família Rubiaceae que permitam um melhor entendimento da variação da sua tolerância ao herbicida glyphosate, dos mecanismos fisiológicos e genéticos associados à tolerância e das perdas por competição das mesmas com a cultura da soja. Populações das espécies rubiáceas Borreria latifolia e Richardia brasiliensis foram coletadas no estado do Paraná e Norte de Santa Catarina. O primeiro estudo, que avaliou a resposta a doses de glyphosate nestas espécies/populações, foi conduzido em delineamento inteiramente casualizado (DIC), em esquema bifatorial, sendo o primeiro fator as populações de cada espécie (B. latifolia e R. brasiliensis), e o segundo níveis de glyphosate (0, 74, 163, 360, 792 e 1742 g ha-1 de e.a.). Foram avaliados o controle visual aos 14 e 28 dias após aplicação (DAA), massa da parte aérea verde (MPAV) e seca (MPAS) aos 28 DAA. A investigação da absorção e translocação com glyphosate marcado radioativamente (14C) foi conduzida em DIC, com três repetições, em esquema bifatorial, sendo o primeiro fator espécies/biótipos com resposta contrastante ao glyphosate e o segundo fator sete períodos de avaliação (2, 8, 24, 48 e 72 horas após aplicação com o herbicida (HAA)). Dois estudos foram realizados em casa-de-vegetação, em DIC para quantificar ceras epicuticulares presentes na superfície das folhas das espécies rubiáceas. O primeiro foi arranjado em esquema fatorial 6 x 2, com seis biótipos, três de B. latifolia e três de R. brasiliensis (sensível, média tolerância e alta tolerância para cada espécie) submetidos aos regimes próximo a capacidade de campo do solo (CC) e próximo ao ponto de murcha permanente (PMP). Posteriormente, foi procedida a extração das ceras epicuticulares com solventes e sua quantificação por pesagem. O segundo estudo foi arranjado em fatorial 2 x 3 x 5, sendo o primeiro fator as condições hídricas do solo (CC e PMP), o segundo fator três biótipos com respostas contrastantes ao glyphosate e o terceiro fator doses do herbicida glyphosate 0,72, 163, 360 e 792 g e.a. ha-1. Foram determinados os níveis de controle das plantas aos 14 e 28 DAA, MPAV e MPAS aos 28 DAA. Um estudo determinou a variabilidade genética existente entre indivíduos e populações de espécies B. latifolia e R. brasiliensis com respostas distintas ao herbicida glyphosate (sensível e com maior tolerância) através da técnica RAPD. Dois estudos conduzidos em delineamento blocos ao acaso com quatro repetições, em esquema bifatorial para determinar a capacidade competitiva de espécies rubiáceas com a cultura da soja. O primeiro fator foi constituído pelas espécies B. latifolia e R. brasiliensis e o segundo pelas densidades 0, 2, 4, 6, 8, 10 e 12 plantas m-2. Foram avaliadas a altura de planta, área foliar e clorofila total nos estádios V6 e R5 da cultura, número de vagens por planta, número de grãos por vagem, massa de 1000 grãos e perda de rendimento de grãos. Houve variabilidade de resposta ao herbicida glyphosate entre os biótipos das espécies B. latifolia e R. brasiliensis coletados em diferentes locais do Paraná e Santa Catarina. A maior parte do herbicida absorvido ficou depositada na folha tratada, com maior translocação no biótipo sensível apenas nas avaliações efetuadas 48 e 72 HAA. A produção de ceras epicuticulares foi incrementada pelo déficit hídrico, com maior ênfase nos biótipos mais tolerantes ao glyphosate para ambas as espécies. Os marcadores RAPD foram satisfatórios na detecção de polimorfismo entre os indivíduos pertencentes a biótipos de B. latifolia e R. brasiliensis com respostas contrastantes ao herbicida glyphosate. A espécie B. latifolia foi mais competitiva com a cultura da soja, comparativamente à R. brasiliensis, provocando maiores perdas em todas as variáveis analisadas.
Herbicide tolerant weed species are widely disseminated in all Brazilian regions. The objective of this research was to increase the information about the glyphosate tolerance on species / biotypes of the family Rubiaceae, allowing a better understanding of the physiological and genetic mechanisms associated to the tolerance and the soybean losses caused due to interference. Populations of Borreria latifolia and Richardia brasiliensis were sampled in the States of Paraná and Santa Catarina. The first study, which evaluated the response to doses of glyphosate in these species / populations, was conducted in a completely randomized design (DIC) in a bifactorial scheme, with the first factor being the populations of each species (B. latifolia and R. brasiliensis), and the second the glyphosate level (0, 74, 163, 360, 792 and 1742 g ha-1 of ea). Visual control at 14 and 28 days after application (DAA), green aerial part mass (MPAV) and dry matter (MPAS) at 28 DAA were evaluated. The investigation of the absorption and translocation with radiophase (14C) -labeled glyphosate was conducted in DIC, with three replicates, in a bifactorial scheme, being the first factor species / biotypes with a glyphosate response and the second factor seven periods of evaluation (2,8 , 24, 48 and 72 hours after application with the herbicide (HAA). Two studies were carried out in greenhouse, in DIC to quantify epicuticular waxes present on the surface of the leaves of the rubiaceous species. The first one was arranged in a 6 x 2 factorial scheme, with six biotypes, three of B. latifolia and three of R. brasiliensis (sensitive, medium tolerance and high tolerance for each species) submitted to the regimes near soil field capacity (CC) and near the permanent wilting point (PMP). Subsequently, the epicuticular waxes were extracted with solvents and quantified by weighing. The second factor was arranged in factorial 2 x 3 x 5, the first factor being the soil water conditions (CC and PMP), the second factor three biotypes with contrasting responses to glyphosate and the third factor doses of the glyphosate herbicide 0, 72, 163, 360 and 792 g and ha-1. The plants control levels were determined at 14 and 28 DAA, MPAV and MPAS at 28 DAA. Another study determined the genetic variability among individuals and populations of B. latifolia and R. brasiliensis species with different responses to the herbicide glyphosate (sensitive and with greater tolerance) using the RAPD technique. Two studies conducted in a randomized complete block design with four replications, in a two - factorial scheme to determine the competitive capacity of rubiaceous species with soybean culture. The first factor consisted of the species B. latifolia and R. brasiliensis and the second by the plant density (0, 2, 4, 6, 8, 10 and 12 plants m-2). Plant height, leaf area and total chlorophyll in the V6 and R5 stages of the crop, number of pods per plant, number of grains per pod, mass of 1000 grains and loss of grain yield were evaluated. There was variability of response to glyphosate among the biotypes of B. latifolia and R. brasiliensis species collected in different locations of Paraná and Santa Catarina. Most of the absorbed herbicide was deposited on the treated leaf, with the highest translocation in the sensitive biotype only in the 48 and 72 HAA evaluations. The production of epicuticular waxes was increased by water deficit, with greater emphasis on glyphosate tolerant biotypes for both species. The RAPD markers were satisfactory in detecting polymorphism among individuals belonging to B. latifolia and R. brasiliensis biotypes with contrasting responses to glyphosate herbicide. The species B. latifolia was more competitive with the soybean crop, compared to R. brasiliensis, causing higher losses in all variables.
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Tapia, Páez Isabel. "Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional deletions by microarray CGH /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-505-0.
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Dierickx, Elisa Gwenda Godelieve. "Population dynamics and population genetics of the Critically Endangered Raso lark : implications for conservation." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/274676.
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The Raso lark is a Critically Endangered bird endemic to the islet of Raso, Cape Verde. This thesis investigates two phenomena that particularly put the species at risk: its extreme fluctuations in population size, and its potentially very low genetic diversity arising from small population size and severe past population contraction. More specifically, two chapters estimate year-to-year survival and explore the factors - environmental and individual - that influence it, while two other chapters examine the lark’s genetic characteristics compared to its two continental closest relatives, including phylogenetic relationships and levels of genetic diversity. The conclusion of the thesis then uses these results to make recommendations for the conservation of the Raso lark. Each of the data chapters is summarized below: Chapter 3 estimates adult survival in the Raso lark and tests whether it could be linked to two population phenomena observed in the field: a highly variable population size and a male-biased sex ratio in certain years. Using a dataset spanning 10 years, I estimated survival for both sexes to fluctuate between 0.76 and 0.94 over this period. This is much higher than the survival rate of its closest relative, the skylark. I also found strong evidence for survival fluctuating over time and differing between males and females (with males having higher survival until 2011, at which point the trend inverted), which could play a role in the aforementioned population size fluctuations and male-biased sex ratio, respectively. Chapter 4 aims at understanding which factors shape survival in the Raso lark. Two types of variables were considered: year-dependent (rainfall, population size, population mean clutch size) and individual-dependent (age, body size characters, size ratio with mate, Ase18 genotype). Amongst the year-dependent variables, only sameyear rainfall impacted survival, with a 13% decrease in survival in the wettest year compared to the driest year, making it the most likely explanation for the inter-annual fluctuations in survival found in Chapter 3. Results also hint at some of the individual factors - morphological measurements and Ase18 genotype - influencing survival. The picture that emerges is that of a species whose life history strategy is to invest heavily in maintenance and survival, but less into fecundity, which stands in sharp contrast with the mainland-dwelling skylark. This is consistent with the theory that island birds generally have slower life history strategies than their continental counterparts. Chapter 5 determines the precise relationship between members of the Alauda clade, resolving a node on the phylogenetic tree of all larks that the study by Alström et al. (2013) was unable to resolve. My RADseq results indicate that the Raso lark and the skylark are sister species, and that the Oriental lark is likely to be a subpopulation, or maybe a subspecies, of the skylark. Chapter 6 compares the population genetics of the Raso lark with those of the skylark. In particular, it estimates the genetic diversity of the Raso lark and investigates the drivers behind it. I found unexpectedly high nucleotide diversity in the Raso lark, and explain this by showing that the population contraction that the species underwent was recent enough for most of the diversity to still be present. Moreover, 16% of the Raso lark genome has levels of heterozygosity on average 6.6 times higher than elsewhere on the genome, likely due to suppressed recombination and the existence of a neo-sex chromosome in larks. Despite this, I found high levels of relatedness and of linkage disequilibrium in the Raso lark, two clear genetic signs that it underwent a severe population contraction several centuries ago.
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Rodrigues, Natalia Fintelman. "Caracterização de alterações epigenéticas no gene JARID1C e desequilíbrios genéticos como causas do retardo mental ligado ao x de etiologia idiopática." Universidade do Estado do Rio de Janeiro, 2011. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=2963.
Full textAbstract:
Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de JaneiroO retardo mental (RM) é caracterizado por um funcionamento intelectual significantemente abaixo da média (QI<70). A prevalência de RM varia entre estudos epidemiológicos, sendo estimada em 2-3% da população mundial, constituindo assim, um dos mais importantes problemas de saúde pública. Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações nos genes encontrados no cromossomo X, levando ao retardo mental ligado ao X (RMLX). Dentre os genes presentes no cromossomo X, o Jumonji AT-rich interactive domain IC (JARID1C) foi recentemente identificado como um potencial candidato etiológico do RM, quando mutado. O JARID1C codifica uma proteína que atua como uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão recente como a identificação do gene JARID1C, é a descoberta de que mudanças no número de cópias de sequências de DNA, caracterizadas por microdeleções e microduplicações, poderiam ser consideradas como razões funcionalmente importantes de RMLX. Atualmente, cerca de 5-10% dos casos de RM em homens são reconhecidos por ocorrerem devido a estas variações do número de cópias no cromossomo X. Neste estudo, investigamos mutações no gene JARID1C, através do rastreamento dos éxons 9, 11, 12, 13, 15 e 16, em 121 homens de famílias com RM provavelmente ligado ao X. Paralelamente, realizamos a análise da variação do número de cópias em 16 genes localizados no cromossomo X através da técnica de MLPA no mesmo grupo de pacientes. Esta metodologia consiste em uma amplificação múltipla que detecta variações no número de cópias de até 50 sequências diferentes de DNA genômico, sendo capaz de distinguir sequências que diferem em apenas um nucleotídeo. O DNA genômico foi extraído a partir de sangue periférico e as amostras foram amplificadas pela técnica de PCR, seguida da análise por sequenciamento direto. Foram identificadas três variantes na sequência do gene JARID1C entre os pacientes analisados: a variante intrônica 2243+11 G>T, que esteve presente em 67% dos pacientes, a variante silenciosa c.1794C>G e a mutação inédita nonsense c.2172C>A, ambas presentes em 0,82% dos indivíduos investigados. A análise através do MLPA revelou uma duplicação em um dos pacientes envolvendo as sondas referentes ao gene GDI1 e ao gene HUWE1. Este trabalho expande o estudo de mutações no gene JARID1C para a população brasileira ereforça a importância da triagem de mutações neste gene em homens portadores de RM familiar de origem idiopática, assim como, é primeiro relato científico relativo à investigação de variações no número de cópias de genes localizados no cromossomo X em homens brasileiros com RM, através da técnica de MLPA.
Mental retardation (MR) is defined as a disability characterized by significant below average intellectual functioning (IQ>70). The prevalence of MR varies between epidemiological studies, estimated at 2-3% of the population, thus constituting a major public health problem. There is a general consensus that MR is more common in males, a finding attributed, in part, to mutations in the genes located on the X chromosome, leading to an X-linked mental retardation (XLMR). Among all the genes present on X chromosome, Jumonji AT-rich interactive domain IC (JARID1C) was recently identified as aetiologic potential candidate of MR, when mutated. The JARID1C gene encodes a protein that acts as a histone demethylase specific for histone 3 lysine 4 (H3K4) and it is indispensable for the epigenetic regulation. As recently as the identification of the JARID1C gene, it is the discovery that changes in the number of copies of DNA sequences, characterized by microdeletions and microduplications, could be regarded as functionally important reasons to XLMR. Currently, about 5-10% of men MR cases are known to occur due to these variations in the number of copies of chromosome X. In this study we investigated mutations in the JARID1C gene by screening of exons 9, 11, 12, 13, 15 and 16 in 121 patients from families with X-linked MR. At the same time we analyzed the variation in the number of copies in 16 genes located in X chromosome through the MLPA technique. This metodology consists of a multiplex amplification that detects variations in the number of copies up to 50 different genomic DNA sequences, being able to distinguish sequences that differ by only one nucleotide. Genomic DNA was extracted from peripheral blood and the samples were amplified by PCR followed by direct sequencing analysis. We identified three sequence variants among 121 patients. The intronic variant c.2243 +11 G> T, which was present in 67% of patients analyzed, the silent variant c.1794C> G and the novel nonsense mutation c.2172C> A, which was present in 0,82% of patients analyzed. The MLPA analysis revealed that the patient 58 exhibited a duplication involving probes for the GDI1 gene and the HUWE1 gene, resulting in an increase in the number of copies of this gene. This work expands the study of mutations in the JARID1C gene for the Brazilian population and reinforces the importance of screening for mutations in this gene in men with idiopathic mental retardation, and it is the first scientific report on the investigation of variations in the number of copies in genes located on chromosome X in Brazilian men with MR using the MLPA technique.
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Whitt, Jeffrey Glen. "The Bobwhite Population Decline: Its History, Genetic Consequences, and Studies on Techniques for Locating and Assessing Current Populations." Thesis, University of North Texas, 2019. https://digital.library.unt.edu/ark:/67531/metadc1505132/.
Full textAbstract:
The northern bobwhite (Colinus virginianus) population decline is a severe, rangewide phenomenon beginning >150 years ago and continuing today. In this investigation, I: 1. document the timeline of bobwhite population decline and unintended genetic consequences of attempted remedies, 2) develop a model useful for predicting possible locations of potentially sustainable bobwhite populations in semiarid rangeland in Texas and Oklahoma, and 3) examine the relationship between population monitoring data and meteorological factors. While breeding season call counts of male bobwhite have been used for >70 years to provide estimates of fall populations for hunting, most studies of call counts have focused on mathematics and statistical accuracy of the count, largely overlooking the influence of meteorological factors on call counts. Here, I present the results of >4,400 individual point counts and examine their relationship with meteorological variables recorded at each stop. Humidity was positively correlated with the number of birds recorded (ρ = 0.275, p < 0.001) and temperature was negatively correlated (ρ = -0.252, p < 0.001). The number of birds recorded was significantly higher in wet years than in drought years. There was no significant correlation between wind velocity and number of birds recorded. These results suggest that, while weather does influence call counts and efforts should be made to record meteorological conditions when collecting call count data, the influence of weather may not easily factor into the analysis. These results also provide another line of evidence for decreased breeding behavior during high temperatures. With the increased focus on bobwhite habitat management on a regional scale, there is a need for reliable methods to identify potential bobwhite habitat. To identify bobwhite habitat in semiarid rangeland, I performed classification of LANDSAT scenes of Clay County, Texas from July and December 2015. Stands of mature little bluestem provide excellent bobwhite nesting cover and could be identified using LANDSAT imagery. I scored habitat by type, compared these scores with the results of breeding season call counts from 2014 and 2015 and found significant correlation. When used in combination with other landscape data, this approach can provide a regional context to inform conservation and management decisions.
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Everett, Clare Alexandra. "Robertsonian translocations and their effect on the fertility of mice." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.357568.
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Heber, Sol. "Translocations and the ‘genetic rescue’ of bottlenecked populations." Thesis, University of Canterbury. Biological Sciences, 2012. http://hdl.handle.net/10092/7278.
Full textAbstract:
Many species around the world have passed through severe population bottlenecks due to anthropogenic
influences such as habitat loss or fragmentation, the introduction of exotic predators,
pollution and excessive hunting. Severe bottlenecks are expected to lead to increased inbreeding
depression and the loss of genetic diversity, and hence reduce the long-term viability of postbottlenecked
populations. The objective of this thesis was to examine both the consequences of
severe bottlenecks and the use of translocations to ameliorate the effects of inbreeding due to bottlenecks.
Given the predicted increase in probability of inbreeding in smaller populations, one would
expect inbreeding depression to increase as the size of a population bottleneck decreases. Determining
the generality of such a relationship is critical to conservation efforts aimed at minimising
inbreeding depression among threatened species. I therefore investigated the relationship between
bottleneck size and population viability using hatching failure as a fitness measure in a sample
of threatened bird species worldwide. Bottleneck size had a significant negative effect on hatching
failure, and this relationship held when controlling for confounding effects of phylogeny, body
size, clutch size, time since bottleneck, and latitude. All species passing through bottlenecks of
~100–150 individuals exhibited increased hatching failure. My results confirm that the negative
consequences of bottlenecks on hatching success are widespread, and highlight the need for conservation
managers to prevent severe bottlenecks.
In many endangered species, preventing bottlenecks is no longer an option as populations have
already declined to a level where urgent action is required to mitigate the negative effects of inbreeding
and ensure their long-term viability. In the past, two approaches have been used with
some success: (1) the introduction of outbred individuals into inbred populations, and (2) the augmentation
of inbred populations through the release of captive-reared individuals. However, both
approaches have limitations. For example, in many threatened species, there are no outbred populations
left to use as a source for introducing new individuals into inbred populations. Similarly,
captive populations may not be available, and if they are, individuals may also be inbred and adapted
to captivity, and perhaps less likely to survive in free-living conditions. I therefore experimentally
tested whether reciprocal translocations between different inbred populations could be an alternative
technique to mitigate the negative effects of inbreeding and restore levels of genetic variation
once a species or population has passed through a bottleneck.
First, I conducted a laboratory experiment using inbred lines of the fruit fly Drosophila melanogaster.
I used founding populations of just one male and one female to create replicate inbred
lines in two different strains of fruit flies. After two generations of inbreeding, I found that crossing
individuals between the two bottlenecked strains reversed the effects of inbreeding and led to
increases in overall breeding success and survival that persisted into the second generation of hybrid
offspring. In contrast, crosses within each strain (but between different replicate lines) resulted
in only slight improvements in some fitness components, and this positive trend was reversed in
the second generation. The results of this experiment suggest that inbred populations can be used
as donors to reduce the effects of severe population bottlenecks and ‘rescue’ an endangered species
from inbreeding depression but that the effect is strongest if there are some initial genetic differences
between donor populations.
To confirm whether ‘genetic rescue’ through the use of inbred populations can be used in a
free-living animal, I repeated the above experiment in a natural setting by conducting reciprocal
translocations between two severely bottlenecked and isolated South Island robin Petroica australis
populations. Both populations had been founded by just five birds each and showed signs of inbreeding
depression. I found significant increases in mean levels of heterozygosity in the hybrid
offspring (crosses between the two populations) compared to inbred control offspring. Similarly,
allelic richness increased significantly in both populations within the first year after the translocation.
The significant increase in genetic diversity was accompanied by increases in overall levels of
fitness. Hybrid birds experienced increased levels of both survival and recruitment into the breeding
population, and sperm quality improved significantly in hybrid males compared with inbred males.
Finally, I found a significant increase in one aspect of cell-mediated immunity in hybrid individuals.
The results of the field study using robins confirm the pattern found in the laboratory with fruit flies
and highlight that inbred populations should not be discounted as potential donors for genetic rescue
when outbred populations are unavailable.
In conclusion, the finding that the negative effects of inbreeding increase with the severity of
the population bottleneck experienced provides added impetus for conservation biologists to ensure
endangered species do not pass through severe bottlenecks. For species or populations that are
already affected by inbreeding depression and have no outbred populations left to act as a source
for the introduction of new genetic stock, the results of both the laboratory and the wild experiment
confirm the potential value of translocations between different inbred populations of endangered
species as a tool to mitigate the negative effects of inbreeding. In order to ensure the long-term
viability of any threatened species or population, however, it is essential to realise that genetic
interventions in form of reciprocal translocations need to be complemented with other management
strategies aimed at the restoration or conservation of suitable habitat.