Tesis: "Human genetics in fiction"

1

Gill, Josephine Ceri. "Race, genetics and British fiction since the Human Genome Project". Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610822.

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2

Azevedo, Soares Andreia. "Imagining humans in the age of DNA : genetics and contemporary British fiction". Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/11593.

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This thesis examines to what extent modern genetics has influenced novelists to adopt a more deterministic view of human beings. It has been claimed that molecular biology, behavioural genetics and evolutionary psychology have challenged traditional ideas about humankind. My hypothesis is that if gene-centred disciplines changed the way we see ourselves, then this would have implications for the literary novel, a genre that depends greatly on representations of humans. In analysing how genetics was incorporated in contemporary British fiction, I try to uncover the ways in which the human characters deal with – or are constrained or empowered by – scientific products or concepts. In addition, I seek to understand what novelists know and think about human genetics, and whether they believe it influenced their stories. Attention is also paid to novelists’ relationship with scientists’ cognitive authority. Specifically, I am interested in whether experts and scientific knowledge were positioned hierarchically above lay audiences and other forms of knowledge. To answer those questions, extended semi-structured interviews and textual analysis were chosen as main research methods. Six literary novels were selected for analysis. This corpus consists of: A.S. Byatt’s A Whistling Woman, Carole Cadwalladr’s The Family Tree, Margaret Drabble’s The Peppered Moth, Maggie Gee’s The Ice People, Simon Mawer’s Mendel’s Dwarf and David Mitchell’s Cloud Atlas. The main conclusion of this project is that novelists are able to incorporate ideas about genetics in their texts without simply perpetuating reductionist discourses. Literary novels offer several advantages compared to the expository writing: they are a flexible literary form; deal imaginatively with the human experience; and effortlessly accommodate multiple perspectives, open-ended questions and complex ideas such as doubt and ambiguity. As such, this genre affords the opportunity to explore contemporary science as a provisional, contingent and socially-embedded endeavour.

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3

Smith, Tonja. "Bioethics for the masses the negotiation of bioethics in film and fiction /". Laramie, Wyo. : University of Wyoming, 2008. http://proquest.umi.com/pqdweb?did=1798481011&sid=1&Fmt=2&clientId=18949&RQT=309&VName=PQD.

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4

Ken, Stephanie Wong. "Human Subjects". PDXScholar, 2017. https://pdxscholar.library.pdx.edu/open_access_etds/4023.

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Human Subjects is a collection of eight short stories that explore the role of identity, otherness, and personhood in contemporary life. Two sex workers try to buy new faces after a botched plastic surgery, a young girl struggles to find her place in a religious sweat cult, mixed race orphans commune with ghosts in a Korean orphanage, best friends embark on a road trip across America in search of a mother. Human Subjects works to tell stories about deeply felt wants and desires from perspectives at the margins, caught in a state of in between. This collection grapples with what it means to be a subject, and what it means to be subjected.

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5

Bell, Christopher Graeme. "The genetics of human obesity". Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433662.

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6

Jennings, Michael William. "Developmental genetics of human haemoglobin". Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236131.

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7

Nelki, Daniel S. "The ownership of human genes and human tissue". Thesis, City University London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301178.

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8

Cooke, Graham Stephen. "Human genetics and susceptibility to tuberculosis". Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.410623.

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9

Murphy, Morna J. "Molecular genetics of human ovarian cancer". Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317465.

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10

Ingman, Max. "Mitochondria and Human Evolution". Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3580.

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Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. In addition, a comparatively high rate of nucleotide substitution facilitates phylogenetic resolution among relatively closely related individuals of the same species.

In this thesis, a statistically supported phylogeny based on complete mitochondrial genome sequences is presented which, for the first time, unambiguously places the root of modern human mitochondrial lineages in Africa in the last 200 thousand years. This conclusion provides strong support for the “recent African origin” hypothesis. Also, the complete genome data underline the problematic nature of traditional approaches to analyses of mitochondrial phylogenies.

The dispersal of anatomically modern humans from the African continent is examined through single nucleotide polymorphism (SNP) and sequence data. These data imply an expansion from Africa about 57 thousand years ago and a subsequent population dispersal into Asia. The dispersal coincides with a major population division that may be the result of multiple migratory routes to East Asia.

Also investigated is the question of a common origin for the indigenous peoples of Australia and New Guinea. Previous studies have been equivocal on this question with some presenting evidence for a common genetic origin and other proposing separate histories. Our data reveals an ancient genetic link between Australian Aborigines and the peoples of the New Guinea highlands.

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11

Sharpe, C. R. "Genes for human apolipoproteins". Thesis, University of Oxford, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.355777.

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12

Behbehani, M. J. "Genetics, development and psychophysiology". Thesis, University of York, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.374162.

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13

Youd, Heather Yvonne. "Investigation of the human hybridoma system for the production of human monclonal antibodies". Thesis, University of Liverpool, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.316602.

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14

Gellatly, Corry. "The genetics of human sex ratio evolution". Thesis, University of Newcastle Upon Tyne, 2010. http://hdl.handle.net/10443/902.

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This study examined the hypothesis that natural selection exerts control of the human sex ratio via allelic variation in an autosomal gene that is phenotypically expressed in the male reproductive system. The hypothesis was supported by results from an analysis of a large genealogical dataset, in which inheritance of sex ratio variation by male but not female offspring was found. A series of simulations with a population genetic model showed that equality of the sex ratio may be maintained in a dynamic equilibrium by frequency dependent selection acting on such a gene. These simulations also suggest that long-term oscillations and autocorrelation between years in annual human sex ratio data may be explained by the hypothesis. A further set of simulations showed that an episode of increased male mortality - in a population with a sex ratio determined by the proposed gene - may result in a sudden increase in male births, provided the mortality is limited to a narrow cohort of males and that families with a greater tendency to have male offspring tend to be larger than those with a tendency to produce equal male and female offspring. To explore whether this could provide an explanation for significant increases in male births observed during periods of war, military service records and genealogical data were examined to determine the age structure of recruits to the British Army in the First World War and the typical age of fatherhood at the time. It was found that the cohort of men lost to the war were younger than men who typically became fathers. It was also found that families with offspring of a single sex tend to be larger than those with both sexes. As such, this work supports the hypothesis that the loss of young men in war results in a relative increase in male births, due to increased fatherhood by men from families with more male offspring (i.e. men with more brothers than sisters), because these men are most likely to have inherited a greater tendency to produce male offspring.

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15

Ching, Yung-Hao. "Molecular genetics of human atrial septal defects". Thesis, University of Nottingham, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246413.

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16

Yelensky, Roman. "Proxy genotypes and phenotypes for human genetics". Thesis, Massachusetts Institute of Technology, 2008. http://hdl.handle.net/1721.1/45913.

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Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2008.
Includes bibliographical references.
Genetic mapping by association is an unbiased approach to discover genes and pathways influencing disease traits and response to drugs and environmental exposures. There are two key obstacles to mapping in humans: (1) The full sequence of study subjects cannot yet be obtained; and (2) There are substantial limits to the phenotypes that can be safely elicited or measured. Geneticists thus rely on practically measurable sets of genotypes to proxy for the sequence and human in-vitro models that proxy for in-vivo genetics and physiology while allowing for perturbation and characterization in high throughput. This thesis presents the development of one important class of proxy genotypes, those that capture most common genetic variation, as well as an evaluation and refinement of proxy phenotypes offered by one commonly used in-vitro model, the lymphoblastoid cell-line.Capturing common human genetic variation for genome-wide association studies requires genotyping a feasible subset of proxy (or "tag") SNPs. We investigated selection and analysis of tag SNPs, examined the relationship between investment in genotyping and statistical power, and evaluated whether power is compromised when tags are selected from an incomplete resource such as HapMap. We demonstrate an efficient haplotypebased tagging approach and other methods that dramatically increase tagging efficiency. Examining all observed haplotypes for association increases power to detect rare causal alleles, while reducing power for common alleles. Power is robust to completeness of the reference panel and holds across demographically related groups.Lymphoblastoid cell lines (LCLs) are being developed into an in-vitro model where genetics of human gene expression, drug response, and other traits can be studied under controlled conditions. However, the impact of the immortalization process, the relative influence of non-genetic factors, and reproducibility of measured traits are not yet understood.
(cont.) We addressed these questions while mapping loci for response to chemotherapy and found that traits in LCLs are subject to substantial confounders and are only modestly reproducible in independent experiments. Despite this, RNA expression of many genes is affected by genetic variation and predicts response to drugs; integrating SNPs, RNA, and drug response can identify novel pharmacogenetic variation mediated by RNA.
by Roman Yelensky.
Ph.D.

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17

Turnbough, Meredith A. "Applications of Molecular Genetics to Human Identity". Thesis, University of North Texas, 2008. https://digital.library.unt.edu/ark:/67531/metadc9730/.

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The primary objectives of this project were: 1. to develop improved methods for extraction of DNA from human skeletal remains, 2. to improve STR profiling success of low-copy DNA samples by employing whole genome amplification to amplify the total pool of DNA prior to STR analysis, and 3. to improve STR profiling success of damaged DNA templates by using DNA repair enzymes to reduce the number/severity of lesions that interfere with STR profiling. The data from this study support the following conclusions. Inhibitory compounds must be removed prior to enzymatic amplification; either during bone section pretreatment or by the DNA extraction method. Overall, bleach outperformed UV as a pretreatment and DNA extraction using silica outperformed microconcentration and organic extraction. DNA repair with PreCR A outperformed both whole genome amplification and repair with PreCR T6. Superior DNA extraction results were achieved using the A6 PMB columns (20 ml capacity column with 6 layers of type A glass fiber filter), and DNA repair with PreCR A led to an overall improvement in profile quality in most cases, although whole genome amplification was unsuccessful. Rapid, robust DNA isolation, successful amplification of loci from the sample-derived DNA pool, and an elimination of DNA damage and inhibitors may assist in providing sufficient genetic information from cases that might otherwise lie on the fringe of what is possible to obtain today.

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18

Turnbough, Meredith A. Benjamin Robert C. "Applications of molecular genetics to human identity". [Denton, Tex.] : University of North Texas, 2008. http://digital.library.unt.edu/permalink/meta-dc-9730.

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19

Jenkins, Dagan. "The genetics of human renal tract malformations". Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445686/.

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The identification of mechanisms by which congenital renal tract malformations arise is an important area of research given that these defects account for approximately half of all children who progress to end-stage renal failure. Understanding the genetic contribution to this pathogenesis is of particular value, facilitating the counselling of families with a history of disease, serving to highlight the critical window(s) during which the course of development is altered, and aiding in the identification of molecular pathways that might be amenable to therapy in the future. This thesis is focused on furthering our understanding of how non-syndromic renal tract malformations are genetically determined. It was hypothesised that human renal tract malformations may be caused by mutations of genes in the Uroplakin (UP) family and Sonic hedgehog (SHH), and that these genes are expressed at specific sites in tissues during normal human renal tract development. It was shown that UPIIIa, a gene expressed in early human development, is mutated in a subset of patients with severe bilateral renal adysplasia. However, no definitive evidence was found that UPII mutations cause renal tract malformations, although variants in this gene might be a rare predisposing factor. Furthermore, no support was found for SHH mutations in human persistent cloaca, although UPIIIa mutations are occasionally associated with this condition. The expression patterns of SHH signalling proteins in normal human renal tract development is consistent with a variety of signalling modes, namely epithelial-to-epithelium canonical signalling in the cloaca, epithelial-to- mesenchyme canonical signalling in the urogenital sinus and epithelial-to-epithelium non-canonical signalling in kidney medullary collecting ducts. The discovery of mutations in children with renal tract malformations will provide families with long-sought explanations regarding the pathogenesis of disease and may also have implications for genetic counselling. The proposed studies will also shed light on the cell biology of normal human renal tract development.

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20

Pandya, Arpita. "Human Y-chromosomal DNA variation". Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298658.

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21

Munro, June. "Studies on cloned human DNA". Thesis, University of Glasgow, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305785.

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22

MacLeod, Ronald. "Gene expression in human neutrophils". Thesis, University of Liverpool, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317206.

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23

Burner, Colleen. "Sister Golden Calf: Stories, Dissections, & A Novella". PDXScholar, 2014. https://pdxscholar.library.pdx.edu/open_access_etds/2081.

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Children find decomposing bodies on a beach. A girl becomes a ghost and finds someone. A dog dies but its owner is out of his mind and eating waffles. Sheep are a perfect species. A woman experiences a pregnancy that is out of this world! A raccoon dies and you watch its body break down. A father does his best fathering. You take a textual road-trip tour of America’s oldest hobby. A trauma is slowed down, picked apart. A soupfin shark is dissected and you watch. A homestead becomesa ghost town in rural Oregon. Joseph Beuys is an artist. A sister falls in love with an object, has a difference of opinion with her sister.

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24

Stringer, Hillary. "Patrol: Excerpts From a Novel". Thesis, University of North Texas, 2014. https://digital.library.unt.edu/ark:/67531/metadc700057/.

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The dissertation consists of a critical preface and excerpts from the novel Patrol. The preface explores how the novel Patrol utilizes characters that engage with tropes of the Romantic Genius in order to establish their subjectivity while navigating the standardizing mechanisms of twenty-first century information technologies. The preface analyzes how the rise of the organic food movement, the usage of biotech genetic engineering, and the tactics of Big Data-era marketing all inform the critical underpinnings of Patrol, situating the novel in conversation with works of fiction and nonfiction that also explore the interplay of these topics with contemporary American culture. Set primarily in Cincinnati, Ohio, the bifurcated narrative of the novel Patrol enlists the perspectives of both a science-tech father from the Boomer generation, Tim Smith, and his millennial public relations-major daughter, Sarah Smith. Both work in industries that seek to utilize the concept of the individual genius in service of quantification. Tim and Sarah’s interactions with Alexandra Smith, a family member who transitions from female to male over the course of the novel, cause both protagonists to recognize that their own identities are malleable, and this discovery goads each into reexamining their career choices and personal relationships. The plot depicts the outcome of these explorations, culminating in a series of choices for Tim and Sarah that showcase the fundamental change in each character. Unable to simply quantify themselves and those around them, Tim and Sarah instead adopt a more nuanced view of the world that seeks to find a balance between the individualistic conceit of the Romantic genius and the quantifying mandates of technology.

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25

Palmer, Soraya Jennalee. "The Human Origins of Beatrice Porter and Other Essential Ghosts". Thesis, Virginia Tech, 2014. http://hdl.handle.net/10919/63895.

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The following manuscript is a collection of linked stories that follows a family from Jamaica and Trinidad to the U.S. and back. The collection focuses on two sisters' episodic journey through their sexual awakenings, their mother's illness, their father's violence and absence. In the process, the sisters come to terms with their own hybrid identities. In writing this book, I drew not only from my personal experience, but also from extensive research both in Trinidad and Tobago and in books and oral histories. The enclosed stories include, "What's My Name?" which is told from the point of view of oral history personified--a narrator trying to break free from "dominant narrative." In this way, my work aims to challenge the nature of narrative itself. Other pieces such as, "Taino Instructions for Communicating with Dead Mothers," re-purpose historical figures into present day in order to create a mythic ghost story.
Master of Fine Arts

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26

Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /". Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.
Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.

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27

Norwitz, Errol R. "Prostaglandin production by human decidual cells". Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314894.

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28

Nicholl, Amanda Jayne. "Volume regulation in human cancer cells". Thesis, University of Huddersfield, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368311.

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29

Brookes, Anthony Joseph. "Molecular analysis of human collagen genes". Thesis, University College London (University of London), 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267102.

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30

Daniels, Robert. "Gene expression in human preimplantation embryos". Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286315.

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31

Xu, Xiao. "Human alpha defensin CNV haplotype diversity". Thesis, University of Nottingham, 2018. http://eprints.nottingham.ac.uk/51262/.

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Humans have highly variable number of alpha defensin genes, with between 3-16 diploid copies. Alpha-defensin genes have important roles in human innate immunity and diseases. Recently, GWAS studies reported this locus associated with IgA nephropathy and periodontitis. However, the underlying mechanism of association is not clear. In this Ph.D. thesis, human alpha defensin CNV flanking haplotype diversity in global populations was studied and the association between diseases and haplotype classes was discussed. Then a novo method to detect variants from inside the DEFA1A3 CNV was developed and a list of potential disease-related mutations for further functional studies was generated. The association between CNV internal variants and flanking haplotype classes was studied. Non-allelic homologous recombination was found to be the major mechanism of CNV formation of alpha defensin CNV. Analysis results were verified by PCR and Sanger sequencing-based methods. Additional to that, the haplotype diversity analysis highlighted an unusual haplotype 5T/7C which is only found in European populations but highly diverged from other human haplotypes. Further evidence was provided to suggest that this is an introgressed haplotype from Neanderthals. Furthermore, we used Oxford Nanopore to reconstruct haplotype structure in DEFA1A3 CNV and discussed its advantages and limitations by our analysis results. In brief, this Ph.D. research greatly improved our understanding of DEFA1A3 global diversity, evolutionary history, diseases and haplotype association.

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32

Rootsi, Siiri. "Human Y-chromosomal variation in European populations /". Tartu : Tartu University Press, 2004. http://dspace.utlib.ee/dspace/bitstream/10062/1252/5/rootsi.pdf.

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33

Warnefors, Anna Maria Linne´a. "Evolution of human gene expression". Thesis, University of Sussex, 2011. http://sro.sussex.ac.uk/id/eprint/6979/.

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During evolution, biological differences between species can arise not only due to structural differences between genes, but also following changes in how, where and when genes are active. However, we know much less about this second aspect, because large-scale comparative transcriptomics only became feasible relatively recently. In this thesis, I will therefore investigate several aspects of gene expression evolution, with emphasis on our own species. A first step to understanding regulatory evolution is to determine how variation in gene expression is created. Transposable elements (TEs) are genomic parasites that can affect their host genome in a number of ways, including gene expression. In Chapter 2, I investigate to what extent transposable elements (TEs) have contributed to expression differences between humans and chimpanzees. Once expression variation has been established, a combination of selection and drift will decide which variants are passed on to future generations. It is of particular interest to identify changes that were established through positive selection, as these are adaptive. In Chapter 3, I describe a new method to detect positive selection acting on gene expression and apply it to data from humans and chimpanzees. Human gene expression is regulated through several mechanisms associated with transcription and post-transcriptional processing. In Chapter 4, I consider the long-term evolution of the human genome and investigate whether genes have reached their maximum capacity in terms of regulatory complexity. Finally, in Chapter 5, I explore the relationship between gene regulation and sequence conservation by identifying and analysing extremely conserved elements in the genome of the fruit fly Drosophila melanogaster.

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34

Clarkson, Paul Andrew. "The molecular genetics of human male sexual development". Thesis, University of Cambridge, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390235.

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35

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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36

Anderson, Michael J. "Molecular genetics of the human complement protein C4". Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.256362.

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37

Matas, Nada. "Molecular genetics of human arylamine N-acetyl transferases". Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338241.

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38

Hawkins, Naomi. "Human gene patents and translational research in genetics". Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.527328.

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39

Herzog, Petra [Verfasser]. "Reverse genetics for Human Coronavirus NL63 / Petra Herzog". Bonn : Universitäts- und Landesbibliothek Bonn, 2015. http://d-nb.info/1080561269/34.

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40

Daskalaki, Evangelia. "Archaeological Genetics - Approaching Human History through DNA Analysis". Doctoral thesis, Uppsala universitet, Evolutionsbiologi, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-211156.

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There are a variety of archaeological questions, which are difficult to assess by traditional archaeological methods. Similarly, there are genetic and population genetic questions about human evolution and migration that are difficult to assess by studying modern day genetic variation. Archaeological genetics can directly study the archaeological remains, allowing human history to be explored by means of genetics, and genetics to be expanded into historical and pre-historical times. Examples of archaeological questions that can be resolved by genetics are determining biological sex on archaeological remains and exploring the kinship or groups buried in close proximity. Another example is one of the most important events in human prehistory – the transition from a hunter-gatherer lifestyle to farming - was driven through the diffusion of ideas or with migrating farmers. Molecular genetics has the potential to contribute in answering all these questions as well as others of similar nature. However, it is essential that the pitfalls of ancient DNA, namely fragmentation, damage and contamination are handled during data collection and data analysis. Analyses of ancient DNA presented in this thesis are based on both mitochondrial DNA and nuclear DNA through the study of single nuclear polymorphisms (SNPs). I used pyrosequencing assays in order to identify the biological sex of archaeological remains as well as verifying if fragmented remains were human or from animal sources. I used a clonal assay approach in order to retrieve sequences for the HVRI of a small family-like burial constellation from the Viking age. By the use of low coverage shotgun sequencing I retrieved sequence data from 13 crew members from the 17th century Swedish man-of-war Kronan. This data was used to determine the ancestry of the crew, which in some cases was speculated to be of non-Scandinavian or non-European origin. However, I demonstrate that all individuals were of European ancestry. Finally, I retrieved sequence data from a Neolithic farmer from the Iberian Peninsula, which added one more facet of information in exploring the Neolithization process of Europe. The Neolithic Iberian individual was genetically similar to Scandinavian Neolithic farmers, indicating that the genetic variation of prehistoric Europe correlated with subsistence mode rather than with geography.

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41

Jones, Mavis Francine. "Open bodies : legitimation, networks and human genetics governance". Thesis, University of East Anglia, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435985.

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42

Feather, Sally Anne. "The molecular genetics of human renal tract malformations". Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322877.

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43

Peacock, Christopher Sean. "The genetics of susceptibility to human visceral leishmaniasis". Thesis, University of Cambridge, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269241.

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44

Iliescu, Florin Mircea. "Unravelling the genetics of human pigmentation in India". Thesis, University of Cambridge, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709532.

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45

McCann, Jennifer. "Variability of genomic imprinting in human disease". Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84294.

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Genomic imprinting is the differential expression of genetic material depending on the parent from which it is transmitted. It is involved in the pathogenesis of many diseases, especially those involved in development, growth abnormalities and cancer. We examined the extent of and the variability of genomic imprinting amongst individuals in three human diseases, Wilms' tumour, Type 1 diabetes and Silver-Russell syndrome.
Wilms' tumour (WT) is a renal embryonal cancer associated with overexpression of the insulin-like growth factor 2 (IGF2). IGF2 is directed to the lysosomes for degradation by the mannose-6-phosphate/insulin-like growth factor two receptor (M6P/IGF2R) encoded by the IGF2R gene, a known tumour suppressor gene on 6826. IGF2R is imprinted in the mouse, with exclusive maternal expression. In humans, however, IGF2R imprinting is a polymorphic phenomenon only being found in a small subset of people. We present results suggesting that IGF2R imprinting provides the first "hit" in IGF2R inactivation in WT, and show the presence of a second "hit" in the form of deletions detectable as loss of heterozygosity.
Another disease investigated in this report is Type 1 diabetes (TID), an autoimmune, polygenic disease. Of the several T1D loci, IDDM8 on 6q, has been found to be subject to parent-of-origin effects and encompasses IGF2R. M6P/IGF2R is involved in immune system regulation. In this study we show an association between TID and IGF2R that is confined to maternally inherited alleles. Our results strongly suggest that IGF2R is a TID susceptibility gene and may be universally imprinted at some tissue or developmental stage not yet studied.
A third disease displaying both tissue-specific and isoform-specific imprinting is Silver-Russell syndrome (SRS), a growth disorder associated with double dose of a maternally expressed gene within 7p11.2--p13, a region in which the imprinted GRB10 gene was a prime candidate. We studied the complex tissue and isoform-dependence of GRB10 imprinting and demonstrated absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth thus eliminating GRB10 as the gene responsible for SRS.
It is evident that genomic imprinting plays a prominent role in various diseases. Imprinted genes can be expressed in a tissue-specific, isoform-specific or a temporally regulated manner. In addition, there is a wide variability of imprinting between individuals.

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46

Wright, David Jonathan. "Investigating statistical homogeneity of a human chromosome". Thesis, Queen Mary, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338927.

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47

Sarma, Ushasri. "Regulation of human osteoclast formation 17Î² estradiol". Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312178.

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48

Fisher, Richard B. "Molecular studies of the human Y chromosome". Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305558.

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49

Ross, Mark T. "Molecular studies of the human sex-chromosomes". Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.258353.

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50

Barzilay, Gil. "Characterisation of human AP endonuclease I (HAP1)". Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318791.

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Tesis sobre el tema "Human genetics in fiction"

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