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1

Nordquist, Niklas. "Genetic Studies of Rheumatoid Arthritis using Animal Models." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-5117-9/.

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2

Souleman, Dima. "Genetic consequences of colonization of a metal-polluted environment, population genetics and quantitative genetics approaches." Thesis, Lille 1, 2017. http://www.theses.fr/2017LIL10006/document.

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Les habitats naturels sont de plus en plus détruits et fragmentés par l'expansion urbaine et les activités humaines. La fragmentation des espaces naturels et agricoles par les bâtiments et les nouvelles infrastructures affecte la taille, la connectivité et la qualité des habitats. Les populations d’organismes vivants sur ces territoires anthropisés sont alors plus isolées. Or, la différenciation entre populations d’un même organisme dépend de processus démographiques et génétiques tels que la dérive génétique, le flux génétique, la mutation et la sélection naturelle. La persistance et le dével
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3

Wright, Galen Egan Buckley. "Molecular genetic analysis of two genes, CYP2D6 and COMT, in the schizophrenia-susceptibility locus on chromosome 22q in the Xhosa population." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/20366.

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4

Cowie, Philip David. "Analysis of the effects of disease-associated variation within a cis-regulatory element of the CNR1 locus on CNR1 promoter dynamics." Thesis, University of Aberdeen, 2014. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=225652.

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Genetic variation within the cannabinoid 1 receptor (CB1R) locus (CNR1) has been repeatedly associated with drug addiction pathologies. Genomic annotation of CNR1 indicates the vast majority of this genetic variation likely results in altered transcriptional regulation of the CNR1 gene as a mechanistic link to the disease phenotype. There is a lack of information describing the regulation of CNR1 transcription and the potential impact of disease-associated variation within the CNR1 locus on its transcriptional regulation. This study investigates the impact of an evolutionary conserved regulato
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5

Armbruster, Steven C. (Steven Christopher). "Characterization of the OCT Plasmid-Encoded Mercury Resistance Genetic Locus in Pseudomonas putida." Thesis, University of North Texas, 1989. https://digital.library.unt.edu/ark:/67531/metadc500381/.

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A 17.1 Kb genetic element encoding for mercury resistance (OCT-Hg^r) was shown to translocate from its original location on the OCT plasmid to the resistance plasmid, RPl, in Pseudomonas putida. Analysis of RPl-Hg^r recombinant plasmids revealed that insertion of mercury resistance genes into RPl could occur at a variety of sites, with all recombinants having common EcoRI restriction fragments of 9.4, 3.8, 2.3, and 1.6 Kb, derived from the insertion. Hybridization analysis suggested the existence of extensive homology between this insertion and the prototypic mercury resistance transposon, Tn5
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6

Porter, Susan Dorothy. "Molecular genetic analysis of the saccharomyces cerevisiae Mat Locus." Thesis, University of British Columbia, 1987. http://hdl.handle.net/2429/29166.

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The MAT∝ locus of the yeast Saccharomyces cerevisiae encodes two regulatory proteins responsible for determining the ∝cell type. The MAT∝1 gene encodes ∝1, a positive regulator of ∝cell-specific genes, whereas the MAT∝2 gene encodes a negative regulator of a cell-specific genes (∝2). MAT∝2. (in conjunction with the MATα1 gene) also determines the α/∝ diploid cell type by repressing haploid-specific genes. ∝2 exerts its effect at the transcriptional level in the ∝ cell by binding to a sequence located upstream of α cell-specific genes. The present study undertook to examine, through in vitro g
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7

Laurencikiene, Jurga. "Regulation of germline transcription in the immunoglobulin heavy chain locus /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7349-989-7/.

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8

Farquhar, R. "The spoIVC locus of Bacillus subtilis." Thesis, University of Oxford, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.370251.

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9

Wilkes, David Charles. "Molecular analysis of the Friedreich's ataxia locus." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309737.

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10

Nicholls, R. D. "Molecular genetics of the human #alpha#-globin locus." Thesis, University of Oxford, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.375277.

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11

Puri, V. "Molecular genetics of the 1q23.3 schizophrenia susceptibility locus." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1444474/.

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Family based linkage studies have confirmed that part of chromosome lq23.3 contains a susceptibility gene for schizophrenia. This region was investigated by tests of allelic and haplotypic association in order to fine map a specific gene in the lq23.3 region. Previously published studies claimed that the genes RGS4 and CAPON on lq23.3 were associated with schizophrenia. For this research thesis multiple markers were genotyped at the RGS4 and CAPON loci in a London based case control sample, no evidence for association was found. Therefore further fine mapping was carried out in the region betw
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12

Stone, Caroline. "Molecular and genetic mapping of the haemochromatosis locus." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306980.

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13

Mathieu, Stephanie. "The Genetics of Arbuscular Mycorrhizal Fungi." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42770.

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Sexual reproduction is an important process amongst eukaryotic organisms, with one function being to maintain genetic variation. The idea that complex eukaryotic species can persist for millions of years in the absence of sex defies fundamental evolutionary dogma, yet a group of organisms known as ancient asexuals were thought to have evolved clonally under deep evolutionary time. Prominent among these are the arbuscular mycorrhizal fungi (AMF), which are obligate plant symbionts that colonize the root cells of plants and extend their hyphae into the soil assisting the plant in acquiring key n
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14

El-Gouhary, Inas. "Targeted transgenesis : the hypoxanthine phosphoribosyl transferase (HPRT) gene locus." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=80256.

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To overcome the limitations that accompanied traditional transgenesis using pronuclear injections, multiple methods have been employed to target a single copy of a transgenic sequence to a chosen location in the genome. One of which is the introduction of a construct as a single copy, in a known orientation, upstream of the hprt (hypoxanthine phosphoribosyl transferase) gene. The present study is designed to characterize the influence this locus could impose on the expression capability of the docked sequence.<br>Consistent ectopic expression of reporter constructs bearing different Mye
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15

Hostert, Arnd Marti. "Identification of regulatory elements in the CD8 gene locus." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286250.

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16

Spiden, Sarah Louise. "Molecular characterisation of the primary ciliary dyskinesia locus C1LD2." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271037.

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17

Pardo, Eneida Hamam. "Organisation of the A mating type locus of Coprinus cinereus." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297260.

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18

Yip, Shea Ping. "Studies of intragenic recombination in the human phosphoglucomutase(PGM1) locus." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267301.

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19

Gupta, Amit. "Prokaryotic metallothionein locus and cadmium tolerance in Synechococcus PCC 6301." Thesis, Durham University, 1992. http://etheses.dur.ac.uk/6085/.

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The aim of this study was to investigate the molecular mechanism of Cd-tolerance in the cyanobacterium Synechococcus PCC 6301 and to establish whether the prokaryotic metallothionein (MT) locus, smt, is involved. Cd-tolerant cell lines of Synechococcus PCC 6301 were developed by step-wise selection, of a culture that had undergone prolonged maintenance in liquid medium. The Cd-tolerant cell lines AO.8, A1.3 and A1.7 (tolerant to 0.8, 1.3, 1.7 µM Cd, respectively) were phenotypically different to the non-selected line AO. Genomic DNA from AO and the Cd-tolerant lines AO.8, A1.3 and A1.7 was ana
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20

Crompton, Douglas Ewan. "Molecular analysis of the shaking-B locus of Drosophila melanogaster." Thesis, University of Glasgow, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309523.

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21

Krausa, Peter. "Defining HLA-A locus alleles from DNA using ARMS-PCR." Thesis, Open University, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338340.

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22

Abukashawa, Sumaia. "Patterns of molecular evolution at the amylase locus in Drosophila." Thesis, University of Ottawa (Canada), 1990. http://hdl.handle.net/10393/5995.

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Genes encoding the starch-degrading enzyme, alpha-amylase, are found in all major groups of animals, plants and microbes. In this thesis, amylase-coding sequences have been chosen as a model system to investigate the patterns of molecular evolution in an enzyme-coding gene. Previous phylogenetic comparisons of amylase-coding sequences have shown high levels of primary sequence conservation over long evolutionary periods. The studies described here have concentrated on the evolution of these genes within the genus Drosophila. I have studied patterns of genetic variation within populations of a
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23

Boddhireddy, Prashanth. "Development of highly recombinant inbred populations for quantitative-trait locus mapping." Diss., Manhattan, Kan. : Kansas State University, 2009. http://hdl.handle.net/2097/1671.

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24

Pimm, Jonathan. "Molecular genetics of the 5q22-23 schizophrenia susceptibility locus." Thesis, University College London (University of London), 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.497294.

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25

Howard, K. R. "Molecular genetics of the hairy locus of Drosophila melanogaster." Thesis, Imperial College London, 1986. http://hdl.handle.net/10044/1/38040.

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26

Smith, Sarah Elizabeth. "The function and genetics of the host IFITM locus." Thesis, University of Cambridge, 2015. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708762.

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27

MacNeil, Angus. "An investigation of gene regulation in the murine #lambda# immunoglobulin locus." Thesis, Imperial College London, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.252431.

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28

Brian, Paul. "A developmentally regulated spore pigment locus from Streptomyces coelicolor A3(2)." Thesis, University of East Anglia, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.333649.

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29

Xinmin, Li. "Experimental studies of pleiotropy at the Adh locus of Drosophila melanogaster." Thesis, University of Nottingham, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.276173.

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30

Sharif, Abid Latif. "A molecular study of the Li locus of Trifolium repens L." Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265140.

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31

Lally, Geraldine M. "Characterisation of an enhancer trap transgene integration locus involved in behaviour." Thesis, University of Cambridge, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.364327.

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32

Andersson, Tove. "Transcription factors regulating the immunoglobulin heavy chain locus /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3559-9/.

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33

Budu-Aggrey, Ashley. "Investigation of a susceptibility locus for Psoriatic Arthritis." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/investigation-of-a-susceptibility-locus-for-psoriatic-arthritis(ad7d8704-84ba-45c4-8841-2948d4a188b1).html.

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Psoriatic arthritis (PsA) is an inflammatory arthritis that is associated with psoriasis. PsA is a complex disease that is influenced by both genetic and environmental factors. Genetic studies have been successful in identifying risk loci for PsA, the majority of which also confer risk for psoriasis. As PsA has been estimated to have a stronger genetic component compared to psoriasis, this suggests that there should be genetic loci that are associated with PsA and not with psoriasis, which I have defined to be PsA-specific. Therefore, the overall aim of my PhD project is to apply genetic exper
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34

Williams, Carol Jane. "Conservation and mutational analysis of the suppressor-of-forked locus of Drosophila." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.294847.

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35

O'Neill, Rosemary. "Genetic and cytogenetic studies of the aprt locus of mouse friend cells." Thesis, Queen's University Belfast, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336006.

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36

Hu, Song. "The molecular genetics of the raspberry locus in Drosophila melanogaster." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/NQ34780.pdf.

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37

MacLeod, Malcolm R. "Analysis of an allelic series of mutants of the r locus of pea." Thesis, University of East Anglia, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.240305.

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38

Erriquez, Daniela <1983&gt. "Transcriptional dynamics of the human DMD locus." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6498/.

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The human DMD locus encodes dystrophin protein. Absence or reduced levels of dystrophin (DMD or BMD phenotype, respectively) lead to progressive muscle wasting. Little is known about the complex coordination of dystrophin expression and its transcriptional regulation is a field of intense interest. In this work we found that DMD locus harbours multiple long non coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. These lncRNAs are tissue-specific and highly expressed during myogenesis, suggesting a possible role in tissue-specific expression of DMD gene i
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39

Dunn, Michael G. "Molecular characterisation of a Bacillus thuringiensis genetic locus." Thesis, University of Cambridge, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360025.

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40

Cowley, Catherine Mary. "Genetic analysis of the human desmosomal cadherin locus." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.264340.

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41

Fairweather, Nicholas D. "Genetic and molecular investigation of the CMTX1 locus." Thesis, University of Aberdeen, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.387254.

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X-linked Charcot-Marie-Tooth disease (CMTX1), a peripheral neuropathy, is clinically characterised by slow progressive weakness and wasting of the distal muscles with associated sensory loss. The CMTX1 locus had previously been localised to the pericentromeric region of the X chromosome. Our initial linkage analysis utilising Restriction Fragment Length Polymorphisms (RFLPs) confirmed that CMTX1 mapped proximally to the DXYS1X locus (Xq21.31). Subsequent linkage analysis, carried out as part of an international consortium, utilising microsatellite polymorphisms further delineated the CMTX1 loc
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42

Specht, Christian. "Characterisation of an inbred mouse strain with a deletion of the alpha-synuclein locus." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272172.

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43

Bhatia, Simran Sukhmani. "Genetic Association of the APOEAPOC1APOC4 Locus with Coronary Artery Disease." Thesis, University of Ottawa (Canada), 2010. http://hdl.handle.net/10393/28712.

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Genome-wide association studies identified a 5' APOC1 single nucleotide polymorphism (SNP), rs4420638 (minor allele frequency (MAF)=0.18) at 19q13.2, with a CAD risk odds ratio (OR) of 1.17 (1.08-1.28) in linkage disequilibrium with apoE4 risk SNP rs429358 (r 2=0.70; OR=1.06 (0.99-1.13), MAF=0.15). Differing OR and MAF led to the hypothesis that rs4420638 risk is partially independent to rs429358. Additional SNPs not in HapMap were genotyped by sequencing, however no strong linkage existed. Genotypically associated traits include serum apoE, as determined by ELISA (rs4420638 AA: 25.5+/-4.8; A
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44

Griffin, Alan. "Characterisation of the genomic region in and around the shaking-B locus of Drosophila melanogaster." Thesis, University of Glasgow, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320284.

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45

Usher, Christina Leigh. "Structural Forms of the Human Amylase Locus and Their Relationships to SNPs, Haplotypes, and Obesity." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17467224.

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Hundreds of human genes reside in structurally complex loci that elude molecular analysis and assessment in genome-wide association studies (GWAS). One such locus contains the three different amylase genes (AMY2B, AMY2A, and AMY1) responsible for digesting starch into sugar. The copy number of AMY1 is reported to be the genome’s largest influence on obesity, yet has gone undetected in GWAS. Using droplet digital PCR (ddPCR), sequence analysis, and optical mapping, we characterized eight common structural forms of the amylase locus, their mutational histories, and their relationships to SNPs. W
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46

Turner, Jennifer Susan. "Functional analysis of the prokaryotic metallothionein locus, smt." Thesis, Durham University, 1993. http://etheses.dur.ac.uk/5701/.

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The localisation of the prokaryotic metallothionein (MT) divergon smt (which includes the MT gene smtA and a divergently transcribed gene smtB] was examined, and smt deficient mutants of Synechococcus PCC 7942 (strain R2-PIM8) have been generated by insertional inactivation/partial gene deletion mediated by homologous recombination. The structure and homozygosity (of the smt region) of these mutants, designated R2-PIM8(smt), was confirmed by Southern analyses and plasmid recovery in Escherichia coli (involving the generation of a ca. 7.8 kb plasmid from Soil digested R2-PIM8(smt) DNA). Further
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47

Lindsay, Robert C. "QUANTITATIVE AND MOLECULAR ANALYSIS OF HABITUATION AT THE MAIZE r1 LOCUS." VCU Scholars Compass, 2018. https://scholarscompass.vcu.edu/etd/5655.

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Epigenetics is the study of heritable changes in phenotypes that are not the result of changes in DNA sequence. Examples of epigenetic affecters include methylation changes, chromatin modifications, transcription factors, and RNA-based changes. The molecular mechanisms behind epigenetic changes are not fully understood. Canalization is the buffering of gene expression against environmental changes over time, while habituation is semi-stable expression change over time due to selection. This work characterized the molecular changes associated with the kernel color changes of the R-sc:86-17p
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48

Saunders, Matthew A. "Patterns of nucleotide variability within and around G6PD, a locus under positive natural selection in humans." Diss., The University of Arizona, 2004. http://hdl.handle.net/10150/280745.

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Some mutations at the gene coding for glucose-6-phosphate dehydrogenase (G6PD) cause a clinical condition of G6PD deficiency, however these alleles have also been shown to confer resistance to malaria based on geographical allele distributions that coincide with malaria, epidemiology, and in vitro studies. A detailed study of nucleotide variability at G6PD can shed light on the signature of selection on the human genome and can also provide insight into the natural history of human malaria. In Appendix A, patterns of nucleotide variability are described in a worldwide panel of humans at G6PD
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49

Todman, Martin. "Investigation of the shaking-B locus of Drosophila melanogaster using RNA in situ hydridisation and transgenics." Thesis, University of Sussex, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.362273.

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50

MacGregor-Pryde, Susan Elizabeth. "A molecular investigation of the otrB locus of Streptomyces rimosus." Thesis, University of Glasgow, 1995. http://theses.gla.ac.uk/2076/.

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The gene cluster encoding production of oxytetracycline (OTC) by Streptomyces rimosus (the commercial producer) has been studied in this laboratory. The topic of this thesis was the region of the otc cluster including and upstream of the OTC-resistance gene otrB, which has been shown previously to be responsible for reduced accumulation of the antibiotic. The otrB gene was sequenced. The sequence revealed some discrepancies with previously-published data on tet347 (Reynes et al., 1988; Journal of General Microbiology 134: 585-598), an OTC-resistant determinant from another strain of S.rimosus.
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