Neurofibromin (NF1) is a 2,818aa protein encoded by the very large NF1 tumour suppressor gene located on chromosome 17q11.2. Loss of function mutations and deletions in NF1 underlie Neurofibromatosis type-1 (NF-1) - the most common inherited syndrome of the nervous system in humans with a birth incidence of 1:3,000. The most visible feature of NF-1 is the neoplastic manifestations known as neurofibromas, however, the syndrome is also characterized by pigmentary defects, peripheral motor dysfunction, learning disabilities and several developmental abnormalities. The molecular etiology of many of these non-neoplastic phenotypes remains unknown. Here we demonstrate that the Tubulin Binding Domain (TBD) of NF1 is a binding partner of the Leucine Rich Pentatrico Peptide Repeat motif-Containing protein (LRPPRC) and cytoplasmic Dynein Heavy Chain (DHC). The NF1-LRPPRC interaction is of high significance as it links NF-1 with Leigh’s Syndrome, French Canadian variant (LSFC) – an autosomal recessive neurodegenerative disorder that arises due to mutations in the LRPPRC gene. This interaction occurs as part of an RNA granule complex, and use of transgenic mouse models establishes an important role of NF1 and LRPPRC in peripheral nerve development. The NF1-DHC interaction is of importance in melanocytes where our studies suggest a possible role in melanosome localization, disruptions in which may underlie the abnormal pigmentary features known as café-au-lait macules that are commonly associated with NF-1. The validation of LRPPRC and DHC as novel NF1 interactors reveal new roles of NF1, which open the door to better understanding the molecular mechanisms that underlie the myriad of NF-1 manifestations.

Neurofibromin (NF1) is a 2,818aa protein encoded by the very large NF1 tumour suppressor gene located on chromosome 17q11.2. Loss of function mutations and deletions in NF1 underlie Neurofibromatosis type-1 (NF-1) - the most common inherited syndrome of the nervous system in humans with a birth incidence of 1:3,000. The most visible feature of NF-1 is the neoplastic manifestations known as neurofibromas, however, the syndrome is also characterized by pigmentary defects, peripheral motor dysfunction, learning disabilities and several developmental abnormalities. The molecular etiology of many of these non-neoplastic phenotypes remains unknown. Here we demonstrate that the Tubulin Binding Domain (TBD) of NF1 is a binding partner of the Leucine Rich Pentatrico Peptide Repeat motif-Containing protein (LRPPRC) and cytoplasmic Dynein Heavy Chain (DHC). The NF1-LRPPRC interaction is of high significance as it links NF-1 with Leigh’s Syndrome, French Canadian variant (LSFC) – an autosomal recessive neurodegenerative disorder that arises due to mutations in the LRPPRC gene. This interaction occurs as part of an RNA granule complex, and use of transgenic mouse models establishes an important role of NF1 and LRPPRC in peripheral nerve development. The NF1-DHC interaction is of importance in melanocytes where our studies suggest a possible role in melanosome localization, disruptions in which may underlie the abnormal pigmentary features known as café-au-lait macules that are commonly associated with NF-1. The validation of LRPPRC and DHC as novel NF1 interactors reveal new roles of NF1, which open the door to better understanding the molecular mechanisms that underlie the myriad of NF-1 manifestations.

This thesis explores factors that determine the price for Australian art sold at auction. Using a large data set that comprises over 20,000 sale observations of Australian paintings sold between 1995 and 2003 characteristics associated with the artist, the work and auction are included in a series of hedonic models. In addition to modelling the overall market, differences within defined market segments for Indigenous and Non-indigenous art are explored. The role of artist identity and critical acclaim, the period in which art works are created and the event of an artist death are areas of specific focus within the analysis along with an investigation of the risks and returns associated with Australian art investment. It is found that artist identity is a crucial factor that drives price. Further, the most highly valued Non-indigenous art works are found to be created prior to 1900, although the market for Contemporary art produced post 1980 is associated with relatively high prices also. Distinctions emerge between Indigenous and Non-indigenous art as we consider the period in which works are created and the influence this has upon price. Almost 90 per cent of Indigenous art sold at auction has been created since 1970 and it is works from the 1970s that command the highest prices for Indigenous art sold at auction. This is not unexpected given the rise of Indigenous art in the early 1970s coinciding with the emergence of the Papunya Tula art movement. The death of an artist also proves to have a different influence upon price when we compared Indigenous and Non-indigenous art. For Non-indigenous art there is clear evidence of a death effect upon art prices, where prices typically rise around the time of an artists death before falling back somewhat with the passing of time. For Indigenous art the influence of a living artist's conditional life expectancy upon price proves to be of greater relevance in explaining price where as the artist ages and the term of their life expectancy reduces prices tend to rise. The analysis within this thesis finishes with the construction of a number of short term art price indices where it is found that returns to investment in Indigenous art are generally higher and less risky compared to Non-indigenous art. Australian art generally and Indigenous art in particular is found to have a relatively weak correlation with the stock market suggesting that Australian art has a role to play in a balanced investment portfolio especially taking into account the aesthetic utility that can also be derived as a result of holding art. The research contributes to understanding how the auction market for Australian art operates with emphasis paid to the distinctions and similarities observed within the sub-markets for Indigenous and Non-indigenous art. Insights from this research have the potential to inform public policy on a number of issues including the effect of resale royalties upon the operation of the auction market, and how indigenous economic development may be facilitated through a strong market for Indigenous art.

Thesis (Ph. D.)--University of Virginia, 2007. / Title from title page. Includes bibliographical references. Also available online through Digital Dissertations.

abstract: Telomerase is a special reverse transcriptase that extends the linear chromosome termini in eukaryotes. Telomerase is also a unique ribonucleoprotein complex which is composed of the protein component called Telomerase Reverse Transcriptase (TERT) and a telomerase RNA component (TR). The enzyme from most vertebrate species is able to utilize a short template sequence within TR to synthesize a long stretch of telomeric DNA, an ability termed "repeat addition processivity". By using human telomerase reconstituted both in vitro (Rabbit Reticulocyte Lysate) and in vivo (293FT cells), I have demonstrated that a conserved motif in the reverse transcriptase domain of the telomerase protein is crucial for telomerase repeat addition processivity and rate. Furthermore, I have designed a "template-free" telomerase to show that RNA/DNA duplex binding is a critical step for telomere repeat synthesis. In an attempt to expand the understanding of vertebrate telomerase, I have studied RNA-protein interactions of telomerase from teleost fish. The teleost fish telomerase RNA (TR) is by far the smallest vertebrate TR identified, providing a valuable model for structural research. / Dissertation/Thesis / Ph.D. Biochemistry 2010

Les génomes des espèces aviaires ont des caractéristiques particulières comme la structure des chromosomes et le contenu en séquences répétées. En effet, alors que dans les génomes vertébrés, la proportion de répétitions dans le génome varie de 30 à 55 %, dans les espèces aviaires, cette proportion est plus faible et varie de 8 à 10 %. L’annotation du contenu répété est le plus souvent réalisée avec le programme RepeatMasker qui s’appuie généralement sur la banque de séquences répétées Repbase. Ce genre de méthode repose uniquement sur la séquence des éléments transposables connus. De fait, ce programme n’est pas en mesure de détecter de nouvelles séquences répétées, et la qualité de l’annotation sera donc dépendante de la banque de séquences d’éléments transposables utilisée. De plus en plus d’études montrent que les éléments transposables jouent un rôle dans le fonctionnement du génome et peuvent influer sur l’expression des gènes. Il est donc primordial que l’annotation de ces séquences soit la plus complète possible. Au cours de ma thèse a été mise en place une stratégie d’annotation des séquences répétées que nous avons élaborée et appliquée à un génome de grande taille, celui de la poule rouge de jungle. L’annotation ainsi obtenue m’a permis d’étudier l’organisation du génome de cette espèce au travers de ses séquences répétées et éléments transposables. / The genomes of avian species have special features such as the structure of chromosomes or their content in repeated sequences. Indeed, compared to vertebrate genomes in which the amount of repetitions varies from 30 to 55%, it is lower in avian species and varies from 8 to 10%. The annotation of repeated content is most often done with the RepeatMasker program that is generally use the Repbase database of repeated sequences. This kind of approach is based solely on the sequence of already known transposable elements. In fact, this program is not able to detect new repeats and in consequence produced annotations with a quality that depends on the sequences of transposable elements used. More and more studies show that transposable elements play a role in the functioning of the genome and can influence gene expression. It is therefore essential that the annotation of these sequences is as complete as possible. There are many programs using methods for detecting de novo transposable elements, either by searching for characteristic structures, or by comparing the genome against itself. However, no standard strategy of annotation for repeated sequences have been defined yet. My thesis aims to set-up a standard strategy of annotation for repeated sequences that was applied to a large genome, that of the red jungle fowl. The obtained annotation allowed me studying the genome organization in this species through its repeated sequences and transposable elements.

Made available in DSpace on 2014-06-11T19:32:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-09-28Bitstream added on 2014-06-13T18:43:25Z : No. of bitstreams: 1 muniz_frs_dr_jabo.pdf: 1182648 bytes, checksum: 94ba816afe15c07503cde37414bc5a99 (MD5) / Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / A variabilidade entre progênies é criada pela segregação cromossômica independente dos genes e pela recombinação genética intracromossomal durante a meiose. O objetivo deste estudo foi analisar a variabilidade derivada de crossing-overs em cruzamentos biparentais (G2 e J2), quádruplos (G4 e J4) e óctuplos (G8 e J8), avaliados em populações segregantes derivadas de parentais contrastantes para resistência ao nematóide de cisto da soja (raça 3) – NCS – e ao oídio - O. A análise foi realizada em populações F2, através de marcadores SSR (single sequence repeat) concentrados em uma região de 55 cM ao redor do gene rmd (resistência ao oídio) e rhg1 (resistência ao NCS). Após o teste dos marcadores, quanto ao polimorfismo, apenas marcadores polimórficos foram utilizados para detectar crossing-over. Todos os marcadores analisados foram não significativos pelo teste de qui-quadrado (P > 0,05), indicando que os valores observados se ajustam à proporção genotípica esperada em F2 (1:2:1). As maiores médias de crossing-over por genótipo foram obtidas para G4 (4,00), no grupo G, e J8 (2,91), no grupo J. Por outro lado, as maiores médias de crossing-over considerando o número de gerações para formar cada população, foram para G2 (2,02) e J8 (0,97). A recombinação entre alelos ocorreu em algumas populações, entretanto para G4 e J8 em 1,89% dos genótipos não ocorreram. Em geral, nos cruzamentos com maior número de parentais envolvidos a ocorrência de crossingover foi maior, sendo satisfatórios na criação de variabilidade. O progresso no melhoramento de soja tem sido alcançado em partes pela criação de novas combinações alélicas dentro dos cromossomos. / The variability among the progenies is created by chromosome segregation, independent assortment of genes, and intra-chromosomal genetic recombination during meiosis. The objective of this study was to analyze the variability derived from crossovers in soybean biparental (G2 and J2), quadruple (G4 and J4) and octuple (G8 and J8) crosses, measured in segregant population derived from contrasting parental regarding their resistance to cist nematode (race 3) – SCN and powdery mildew – PM. The analyses were made in F2 population through SSR (single sequence repeat) markers located in a 55CM region around Rmd (powdery mildew) and Rhg1 (cist nematode) resistance genes. After screening makers for their polymorphism, only polymorphic markers were used to detect crossovers. All markers were not significant by chi-square test (P > 0.05), showing that observed values corroborates to genotypic inheritance ratio expected in F2 population (1:2:1). Thus, the higher average of crossovers for some populations were observed for G4 (4.00), at linkage group G and J8 (2.91), at linkage group J. On the other hand, the higher average of crossovers considering the generation number to form each population, was found for G2 (2.02) and J8 (0.97). The recombination between alleles occurred in some populations, however, to G4 and J8, in 1.89% of the genotypes not showing crossover. In general, the crosses with larger numbers of parents showed higher number of crossovers, being very satisfactory for the creation of genetic variability. Soybean breeding progress has been accomplished in part by creating on new within_chromossome allele combinations.

Made available in DSpace on 2014-08-20T14:06:15Z (GMT). No. of bitstreams: 1 Dissertacao_Luciano_Carlos_da_Maia.pdf: 2299013 bytes, checksum: 1ea0e6e151a64a565fee2caf64a2b9d7 (MD5) Previous issue date: 2007-04-05 / The classic plant breeding methods are responsible for the major advances of modern agriculture. However, molecular biology and genomic techniques have provided insights into how further advance in genetic gains. Molecular markers have been successfully applied in genetic mapping and marker assisted selection in many plant species. Rice after the complete sequence of its genome, has been more and more used as a model for cereal improvement. Currently, strategies have been relying on the transference of information between the model genome (rice) and other grasses, making that the information generated in rice and for other major crops such as maize, wheat and rice can be also used to improve orphan grass crops. Microsatellites (SSRs) have been described as the preferred type of marker to be used in these studies. Given these features of rice and SSRs and aiming to evaluate the abundance of these markers on the rice genome and their availability for public use, a computational tool was developed. This tool search’s and characterizes these loci, applies primer design and searchs for anchoring sites for the primers in genomic databases of any species. It also, evaluates the affectivity of transposition of these markers by simulating a PCR. All SSRs found in the rice genome were analyzed and primers were designed for all loci in chromosome 1 and simulated against the other rice chromosomes, giving an idea of potentially duplicated regions across the genome. / O uso de várias classes de marcadores moleculares tem sido implementado em mapeamento genético e na seleção assistida de várias espécies vegetais. O arroz, após o sequenciamento completo do seu genoma, tem sido proposto como um modelo genético entre as várias espécies gramíneas de importância agronômica. Modernamente, uma estratégia tem sido adotada com base na transferência de informações da genômica estrutural dessas gramíneas, sendo que, desta forma, o conhecimento obtido em espécies com maiores investimentos técnicos como o milho, trigo e o arroz, possam ser utilizados também nas gramíneas com menores níveis tecnológicos de pesquisa. A classe dos marcadores moleculares conhecida como microssatélites é atualmente descrito como preferencial nestes estudos. Dadas essas características do arroz e dos microssatélites, com objetivo de se conhecer a riqueza desses marcadores no genoma do arroz e a disponibilização desses para a utilização pública, foi desenvolvido uma ferramenta computacional para busca e caracterização desses locos, desenho de primers e busca por sítios de ancoramento para os primers em bancos de dados genômicos de qualquer espécie, avaliando dessa forma, a transposição de marcadores moleculares entre espécies através da simulação da PCR. Foram analisadas e descritas todas as possíveis ocorrências de microssatélites no genoma do arroz e desenhados primers para os locos encontrados no cromossomo 1, que posteriormente foram usados para a simulação da PCR contra os demais cromossomos do arroz, resultando o número de amplificações possíveis para cada conjunto de primers e suas respectivas regiões genômicas.

Submitted by Aline Batista (alinehb.ufpel@gmail.com) on 2016-03-04T13:57:17Z No. of bitstreams: 2 Sombras Capturadas pela Experiência Noturna com o Desenho.pdf: 9011052 bytes, checksum: 031e8f369f0b356134d2edf6f9e6f15b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2016-03-04T14:25:41Z (GMT) No. of bitstreams: 2 Sombras Capturadas pela Experiência Noturna com o Desenho.pdf: 9011052 bytes, checksum: 031e8f369f0b356134d2edf6f9e6f15b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2016-03-04T14:28:18Z (GMT) No. of bitstreams: 2 Sombras Capturadas pela Experiência Noturna com o Desenho.pdf: 9011052 bytes, checksum: 031e8f369f0b356134d2edf6f9e6f15b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Made available in DSpace on 2016-03-04T14:30:48Z (GMT). No. of bitstreams: 2 Sombras Capturadas pela Experiência Noturna com o Desenho.pdf: 9011052 bytes, checksum: 031e8f369f0b356134d2edf6f9e6f15b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2014-04-04 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Os ensaios textuais que se seguem abordam os desenhos realizados a partir da observação das sombras percebidas em condições de iluminação precária, à noite. Desta forma, o trabalho artístico se articula na tensão entre o que se experiencia no encontro com o espaço noturno e as sombras, em consecutivas tentativas de capturar e registrar o que delas é visível. O texto enfatiza a relação do desenho com as condições de privação da visão, trazendo a discussão sobre a experiência de desenhar à noite. / This dissertation address the drawings made from observation of shadows perceived in conditions of poor light, mainly in the night. The artwork articulates the tension between experiences in the encounter with the shadows and attempts to capture and record which of them is visible. The text emphasizes the relationship of the drawing conditions of poor vision lighting, bringing the discussion about the experience of drawing in the night.

Master of Science / Department of Hotel, Restaurant, Institution Management & Dietetics / Ki-Joon Back / The objectives of this research were to address the impacts of positive and negative emotions on customers’ satisfaction and customers’ repeat visit intentions, and to investigate the mediating effect of customer satisfaction on the relationship between emotion and customers’ repeat visit intentions. A theoretical model of the formation of repeat visit intentions was proposed through a comprehensive review of the literature. Richins’ Consumption Emotion Set (1997) was modified to make it suitable for application in the lodging industry. The modifications were based on the participants’ responses to each emotion descriptor in the pilot test. Surveys were completed by graduate students and faculty members, undergraduate students at a Midwestern university, and conference attendees. Of 259 surveys returned, 248 responses were used for data analysis. Data were analyzed using factor analysis and a series of regression analysis. Positive and negative consumption emotions were found to have a significant effect on customer satisfaction and repeat visit intentions. Results also provided evidence of a significant association between customer satisfaction and repeat visit intentions. Customer satisfaction was found to be a full mediator in the relationship between customers’ positive and negative consumption emotions and repeat visit intentions. The loss aversion of the prospect theory was empirically supported in the formation of customers’ repeat visit intentions since results indicate that negative emotion has a greater influence on customer satisfaction and customers’ repeat visit intentions. Results support the importance of considering the impact of customers’ emotions on post-purchasing behaviors when developing better marketing and service strategies to achieve higher occupancy rate and retain customers.