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Population Genetics of Mutation Load and Quantitative Traits in Humans
No full textThe past fifteen years have seen a revolution in human population genetics. We have gone from anecdotal genetic data from a few individuals at a few genetic loci to an avalanche of genome-wide sequencing data, from many individuals in many different human populations. These new data have opened up many new directions of research in human population genetics. In this work, I explore two such directions.
Genomic data have uncovered that recent changes in human population size have had dramatic effects of on the genomes of different human populations. These effects have raised the question of whether historic changes in population size have led to differences in the burden of deleterious mutations, or mutation load, between different human populations. In Chapter 1 of this thesis, I show that despite earlier arguments to the contrary only minor differences in load are expected and indeed observed between Africans and Europeans.
Over the past decade, genome-wide association studies (GWAS) have begun to systematically identify the genetic variants underlying heritable variation in quantitative traits. The number, frequencies and effect sizes of these variants reflect the selection, and other evolutionary processes, acting on traits. In Chapter 2, I develop a model for traits under pleiotropic, stabilizing selection, relate the model’s predictions to GWAS findings, and show that GWAS findings for height and BMI indeed follow model predictions. In Chapter 3, I develop a method to infer the distribution of selection coefficients acting on genome-wide significant associations made by GWAS
Jews and gender in British literature 1815-1865.
No full textPhDThis thesis examines the variety of relationships between Jews and gender in early
to mid-nineteenth century British literature, focussing particularly on representations
of and by Jewish women. It reconstructs the social, political and literary context in
which writers produced images and narratives about Jews, and considers to what
extent stereotypes were reproduced, appropriated, or challenged. In particular it
examines the ways in which questions of gender were linked to ideas about religious
or racial difference in the Victorian period.
The study situates literary representations of Jews within the context of
contemporary debates about the participation of the Jews in the life of the modern
state. It also investigates the ways in which these political debates were gendered,
looking in particular at the relationship between the cultural construction of
femininity and English national identity.
It first considers Victorian culture's obsession with Rebecca, the Jewess created in
Walter Scott's influential novel Ivanhoe (1819). It examines Rebecca's refusal to
convert to Christianity in the context of Scott's discussion of racial separatism and
modern national unity.
Evangelical writers like Annie Webb, Amelia Bristow and Mrs Brendlah were
prolific literary producers, and preoccupied with converting Jewish women.
Particularly during the 18'40s and 1850s, evangelical writing provided an important
forum for the construction and consolidation of women's national identity.
Grace Aguilar's writing was an attempt to understand Jewish identity within the
terms of Victorian domestic ideology. In contrast, Celia and Marion Moss, in their
historical romances, offered narratives of female heroism and national liberation,
drawing on the contemporary debate about slavery.
Benjamin Disraeli's construction of a "tough version of Jewish identity was a
response both to the contemporary stereotype of the feminised Jew and to the debate
about Jewish emancipation. It also drew on the virile ideology of the Young England
movement of the 1840s
The population genetics of human disease: The case of recessive, lethal mutations.
No full textDo the frequencies of disease mutations in human populations reflect a simple balance between mutation and purifying selection? What other factors shape the prevalence of disease mutations? To begin to answer these questions, we focused on one of the simplest cases: recessive mutations that alone cause lethal diseases or complete sterility. To this end, we generated a hand-curated set of 417 Mendelian mutations in 32 genes reported to cause a recessive, lethal Mendelian disease. We then considered analytic models of mutation-selection balance in infinite and finite populations of constant sizes and simulations of purifying selection in a more realistic demographic setting, and tested how well these models fit allele frequencies estimated from 33,370 individuals of European ancestry. In doing so, we distinguished between CpG transitions, which occur at a substantially elevated rate, and three other mutation types. Intriguingly, the observed frequency for CpG transitions is slightly higher than expectation but close, whereas the frequencies observed for the three other mutation types are an order of magnitude higher than expected, with a bigger deviation from expectation seen for less mutable types. This discrepancy is even larger when subtle fitness effects in heterozygotes or lethal compound heterozygotes are taken into account. In principle, higher than expected frequencies of disease mutations could be due to widespread errors in reporting causal variants, compensation by other mutations, or balancing selection. It is unclear why these factors would have a greater impact on disease mutations that occur at lower rates, however. We argue instead that the unexpectedly high frequency of disease mutations and the relationship to the mutation rate likely reflect an ascertainment bias: of all the mutations that cause recessive lethal diseases, those that by chance have reached higher frequencies are more likely to have been identified and thus to have been included in this study. Beyond the specific application, this study highlights the parameters likely to be important in shaping the frequencies of Mendelian disease alleles
Representations of migrant and nation in selected works of Rohinton Mistry and Salman Rushdie
No full textThis thesis explores the representations of, and the relationship between. the migrant and the nation in selected works of the Bombay-born novelists Rohinton Mistry and Salman Rushdie. I explore each writer's engagement with contemporary debates surrounding the material, political, social and imaginative consequences of the crisis in secularism in India during the 1970s, 1980s and 1990s, and consider how this engagement is informed by their
migrant positions beyond India's borders. A primary concern is the way in which Mistry's and Rushdie's representations of the nation, and of migrant and diasporic subjects, intersects with the representation of Bombay in their work.
This thesis is divided into five chapters. The first two chapters concentrate on Mistry's fiction, the remaining three on Rushdie's work. Published between 1988 and 2002, the central novels examined are situated within debates regarding the founding principles of the Indian nation, and notions of Indianness, the rise of communalism in general and Hindu nationalism in particular, and the renaming of Bombay as Mumbai. My readings foreground the necessity of a
close understanding of the historical and political transformations taking place within Bombay and India during the 1970s, 1980s and 1990s, but also during the 1950s and 1960s. I argue that Mistry's and Rushdie's work is informed by a deepening anxiety over these socio-political transformations, and over how reconfigurations of Indianness increasingly position minority communities, and migrant and diasporic subjects, outside of definitions of national identity.
This anxiety extends into the negotiation of their own migrant positions. My reading of the differing representations of the migrant in Mistry's and Rushdie's work engages with ideas of accountability, political responsibility, and with notions of cosmopolitanism. In doing so, I question familiar assumptions regarding the migrant condition as one of predominantly empowering political agency. I argue that, while both authors emphasise the importance of the migrant sustaining a critical engagement with India's politics, they also foreground the anxious difficulties of doing so. This difficulty informs Mistry's and Rushdie's divergent negotiation of their own position as migrant writers, and I examine how their fiction is marked by an anxiety over the adequacy of writing as a mode of political engagement with the crisis in secularism and the parochialisation of Bombay, and as a means of negotiating the politics of migrancy
"Disney is the Tiffany’s and I am the Woolworth's of the business": A critical re-analysis of the business philosophies, production values and studio practices of animator-producer Paul Houlton Terry
No full textThis thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Animator-producer Paul Houlton Terry has been portrayed as having little passion for the animation he produced and being more concerned with making a profit than producing entertaining cartoons with high production values. The purpose of the dissertation is to re-evaluate Terry‘s legacy to animated cartooning by analyzing his business philosophies, production values, and studio practices.
Application of four psychodynamic factors to the early life and career of Terry, 1887-1929, found that his economic decision making was characterized by: an external locus of control, risk-averse financial behaviour, extreme saving behaviour through precaution, and shrewd money management practices. Based on Terry‘s historical responses to twelve major economic, technological, or institutional forces of change for the period 1929-1955, the psychodynamic factors were found to provide accurate explanations for his studio practices and production decisions.
There was no evidence to support the conclusion that three early career disappointments undermined Terry‘s intrinsic motivation to create animated cartoons. Rather, Terry‘s lack of risk taking, external locus of control, tight studio production schedule, desire to compete with neighbour studio Fleischer, difficulty in separating financial rewards from creative processes in animation, and practice of undertaking surveillance measures on staff may have undermined his and his studio‘s creativity. Archival research found Terry to possess strong passions for and to have made significant creative contributions to the field of animation.
Biographical research found that Terry retained a stable nucleus of highly talented artists who dedicated a significant portion of their working careers to the studio. An analysis of the cel aesthetics of a random sample of animated cartoons produced during the years 1930-1955 found that Terry created animated cartoons with above average cel aesthetics when compared to the other studios thereby supporting an inference that Terry was motivated to producing quality crafted animation. Further research is suggested into the role psychodynamic factors and economic decision-making play in the film production process and a clarification of Terry‘s legacy to the field of animated cartoons
Danmarkshistorier: National Imagination and Novel in Late Twentieth Century Denmark
No full textDanmarkshistorier: National Imagination and Novel in Late Twentieth-Century Denmark C.C.Thomson, University of Edinburgh, 2003 This thesis centres on the contemporary Danish novel as a conduit for national imagining. Chapter one begins with a discussion of Benedict Anderson's account of the ability of novels to facilitate an imagining of the national community in time and space. Critical responses to Anderson's hypothesis are then situated in the context of late twentieth-century debates on the 'postnational' and 'posthistorical'. Recent Danish historiography attempts to negotiate national histories that recognise not only the contingency of established historical accounts but also their narrative nature, employing textual strategies such as resisting linear chronology and causality, historicising space and place, and fusing (individual) memory and (collective) history. Such texts, hybrid narratives between histories and stories of Denmark (or Danmarkshistorier), implicate a Danish national model reader who is alive both to the homogenising contemporary discourse of danskhed (Danishness) and to its self-ironising subversion. Contemporary Danish literature, it is argued, shares this concern with what Bhabha identifies as the symbiosis of nationalist historical pedagogy and narrative performance. Chapters two to four focus on three novels which map out the Danish experience of the twentieth century and sit at the intersection of the genres which have marked Danish literature in the 1990s: the punktroman and the encyclopedic novel. Thus all three texts explore temporalities alternative to Anderson's interpretation of Benjamin's 'homogenous empty time', and they construct shifting textual communities of national subjects predicated on the liminalities of cultural identities, on the boundaries between historical fact and fiction, and on the tension between privileged and marginal forms of narrative. In chapter two, Peter Høeg's Forestilling om det tyvende århundrede (1988) is discussed as an anthropological novel which pastiches postcolonial and magical realist writing to critique the longing for order inherent in national historiography and fiction. Peer Hultberg's Byen og verden (1992) is read, in chapter three, as a spatial history of a community in which local, national and global places and times of belonging can coalesce. Chapter four examines the configurations of individual and collective memory, trauma and event, the epochal and the everyday in Vibeke Grønfeldt's I dag (1998). The thesis concludes with a discussion of the novels in question as sites of textual memory, in which 'postnational' spacetimes, including the term of the millennium and the glocal, can be negotiated
Author Correction: ChIP-seq of plasma cell-free nucleosomes identifies gene expression programs of the cells of origin
No full textNumerically efficient modeling of CNT transistors with ballistic and non-ballistic effects for circuit simulation
No full textThis paper presents an efficient carbon nanotube (CNT) transistor modeling technique which is based on cubic spline approximation of the non-equilibrium mobile charge density. The approximation facilitates the solution of the selfconsistent voltage equation in a carbon nanotube so that calculation of the CNT drain-source current is accelerated by at least two orders of magnitude. A salient feature of the proposed technique is its ability to incorporate both ballistic and nonballistic transport effects without a significant computational cost. The proposed models have been extensively validated against reported CNT ballistic and non-ballistic transport theories and experimental results
Author Correction: ChIP-seq of plasma cell-free nucleosomes identifies gene expression programs of the cells of origin
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