Dissertations / Theses on the topic 'Human genetics'
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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.
Full textMitochondrial 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.
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.
Full textCopies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
Dubé, Marie-Pierre. "New approaches in human genetic analysis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36581.
Full textThe second part addresses linkage-disequilibrium based fine mapping in the French Canadian population. The performance of five linkage-disequilibrium based fine-mapping methods is evaluated using French Canadian chromosomes with one of three diseases found in this population: oculopharyngeal muscular dystrophy (OPMD), hidrotic ectodermal dysplasia (HED), and sensorimotor polyneuropathy with or without agenesis of the corpus callosum (ACCPN). The gene for OPMD was recently mapped and cloned, allowing us to evaluate the performance of the methods with the OPMD results, and to make predictions about the ACCPN and HED putative gene positions. In addition, a new approach to linkage-disequilibrium based fine mapping is presented using FrenchCanadian ascending genealogies. The method involves two steps. First, the likely founding couple of a mutation-bearing chromosome is identified using a computerised randomisation statistic. Then, using a delete-d jackknife resampling scheme, the distribution of gene mapping estimates is calculated from the count of ancestral recombinants and ancestral meioses joining the identified founding couple to the disease gene carriers. Gene mapping estimates are calculated from each marker individually, and confidence intervals of the estimates are derived from the jackknife distributions. The method, when applied to French Canadian families with OPMD, successfully confirmed the localisation of PABP2 responsible for OPMD and performed better than other linkage disequilibrium-based mapping models.
De, Bustos Cecilia. "Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6629.
Full textHeilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.
Full textBell, Christopher Graeme. "The genetics of human obesity." Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433662.
Full textJennings, Michael William. "Developmental genetics of human haemoglobin." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236131.
Full textBell, Jordana Tzenova. "Epistasis in complex human traits." Thesis, University of Oxford, 2006. http://ora.ox.ac.uk/objects/uuid:547db446-c84c-4a6c-8b5c-ce960f7765c5.
Full textMelin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.
Full textNelki, 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.
Full textDaskalaki, 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.
Full textBalciuniene, Jorune. "Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-4917-4/.
Full textCooke, Graham Stephen. "Human genetics and susceptibility to tuberculosis." Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.410623.
Full textMurphy, 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.
Full textSharpe, C. R. "Genes for human apolipoproteins." Thesis, University of Oxford, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.355777.
Full textTai, Lai-shan, and 戴麗珊. "Molecular genetic characterizations of human non-small cell lung cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375315.
Full textYoud, 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.
Full textOlsson, Anna-Karin. "Ras-MAPK signaling in differentiating SH-SY5Y human neuroblastoma cells." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2000. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1251.
Full textNeuroblastoma is a malignant childhood cancer, originating from sympathetic neuroblasts of the peripheral nervous system. Neuroblastoma is a heterogenous group of tumours, while some are highly malignant others can spontaneosly mature into a more benign form or regress. Less than half of the patients survive and this statistics has improved only modestly over the past 20 years.
SH-SY5Y is a human neuroblastoma cell line established from a highly malignant tumour. The cells have retained a capacity to differentiate in vitro in response to low concentrations of the phorbolester 12-O-tetradecanoylphorbol-13-acetate (TPA) in the presence of serum or defined growth factors. Differentiated cells are characterised by neurite formation and upregulation of neuronal marker genes. SH-SY5Y are unresponsive to nerve growth factor (NGF), but when transfected to express the NGF-receptor TrkA, they differentiate in response to NGF. Protein kinase C (PKC) is pivotal for the differentiation response to take place.
We have investigated the role of signaling through the Ras-MAPK pathway in differentiating SH-SY5Y, with respect to neurite formation, expression of neuronal marker genes and growth control. Our results show that differentiation-promoting treatment induced a sustained activation and nuclear accumulation of the MAPK ERK in SH-SY5Y. The nuclear accumulation of ERK was PKC-dependent. However, nuclear accumulation of ERK was not sufficient for a differentiation response to take place in these cells, but ERK activity was needed for the characteristic upregulation of NPY and GAP-43 induced by TPA. ERK activity did not induce neurite formation, neither was it necessary for TPA-induced neurite formation. Instead, stimulation of a pathway distinct from MEK/ERK, but downstream of Ras, was needed for morphological differentiation. We could also show that differentiated cells still entered S-phase and that there was no correlation between expression of the CKI p21cip1 (an ERK target), BrdU-incorporation or neurite formation.
Behbehani, M. J. "Genetics, development and psychophysiology." Thesis, University of York, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.374162.
Full textProença, Marcela Alcântara [UNESP]. "Associação de polimorfismos nos genes TLR2 e TLR4 com risco de câncer colorretal esporádico e influência na expressão gênica." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/92527.
Full textO câncer colorretal (CCR) é um dos modelos da associação inflamação-câncer. Assim, polimorfismos em genes que desempenham um papel importante na suscetibilidade a doenças inflamatórias, como os receptores Toll-like (TLR2 e TLR4), podem ser alvos interessantes para estudos de possíveis marcadores moleculares para CCR. Objetivos: Avaliar a associação dos polimorfismos TLR2 -196 a -174del, TLR4 -1607 T/C (rs10759932) e TLR4 +896 A/G (rs4986790), e de fatores de risco (gênero, idade, tabagismo e etilismo) com o desenvolvimento de CCR; assim como determinar os níveis de expressão relativa desses genes no tecido tumoral e a influência dos polimorfismos funcionais sobre os níveis de expressão do RNAm. Materiais e Métodos: Foram genotipadas 434 amostras (194 de pacientes com CCR e 240 de indivíduos saudáveis) de DNA de leucócitos de sangue periférico ou de células de tecido tumoral (DNA e RNA), por meio das técnicas de PCR alelo-específico e PCR-RFLP. A análise de regressão logística múltipla foi utilizada para avaliar a associação dos polimorfismos com risco de CCR, aplicando os modelos log-aditivo, dominante e recessivo, ajustados para os fatores de risco. Para a quantificação relativa (RQ) do RNAm foi utilizada a técnica de PCR quantitativa em tempo real (qPCR) em 40 amostras de tecido tumoral. Resultados: A variante polimórfica TLR2 -196 a -174del foi associada com risco aumentado de desenvolvimento de CCR de acordo com os modelos dominante (OR=1,72, IC95%=1,03-2,89; p=0,038) e log-aditivo (OR=1,59, IC95%=1,02-2,48; p=0,039), porém para os polimorfismos TLR4 -1607 T/C e TLR4 +896 A/G não foi encontrada associação. Idade acima de 60 anos (OR=1,83, IC95%=1,26-2,90; p=0,003) e hábito etilista (OR=2,78, IC95%=1,68-4,60; p=0,000) também estão associados com risco...
Colorectal cancer (CRC) is one of the models of inflammation-cancer association. Thus, polymorphisms in genes that play a role in susceptibility to inflammatory diseases, such as Toll-like receptors (TLR2 and TLR4) may be interesting targets for studies of potential molecular markers for CRC. Objectives: To evaluate the association of polymorphisms TLR2 -196 to -174del, TLR4 -1607 T/C (rs10759932) and TLR4 +896 A/G (rs4986790) and risk factors (gender, age, smoking and drinking habits) with CRC development, as well as to determine the relative expression levels of these genes in tumor tissue and influence of functional polymorphisms on the levels of mRNA expression. Materials and Methods: We genotyped 434 samples (194 patients with CRC and 240 from healthy individuals) of DNA from peripheral blood leukocytes or tumor tissue cells (DNA and RNA), by PCR allele-specific or PCR -RFLP. The multiple logistic regression analysis was performed to evaluate the association between the polymorphisms with risk of CRC, applying the log-additive, dominant and recessive models, adjusted for risk factors. The relative quantification (RQ) of the mRNA was performed by the real time quantitative PCR (qPCR) technique in 40 tumor tissue samples. Results: The polymorphic variant TLR2 -196 to -174del was associated with increased risk of developing CRC according to both dominant (OR=1.72, 95%CI=1.03 to 2.89, p=0.038) and log-additive models (OR=1.59, 95%CI=1.02 to 2.48, p=0.039), but for the TLR4 -1607 T/C and TLR4 +896 A/G polymorphisms no association was found. Age above 60 years old (OR=1.83, 95%CI=1.26 to 2.90, p=0.003) and alcohol consumption (OR=2.78, 95%CI=1.68 to 4.60, p=0.000) are also associated with increased risk for developing of this cancer. Analysis of relative quantification of the mRNA showed a... (Complete abstract click electronic access below)
Pandya, Arpita. "Human Y-chromosomal DNA variation." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298658.
Full textMunro, June. "Studies on cloned human DNA." Thesis, University of Glasgow, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305785.
Full textMacLeod, Ronald. "Gene expression in human neutrophils." Thesis, University of Liverpool, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317206.
Full textHempel, Nadine. "Gene regulation of the human SULT1A sulfotransferases /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe18151.pdf.
Full textGellatly, Corry. "The genetics of human sex ratio evolution." Thesis, University of Newcastle Upon Tyne, 2010. http://hdl.handle.net/10443/902.
Full textChing, 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.
Full textYelensky, Roman. "Proxy genotypes and phenotypes for human genetics." Thesis, Massachusetts Institute of Technology, 2008. http://hdl.handle.net/1721.1/45913.
Full textIncludes 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.
Turnbough, Meredith A. "Applications of Molecular Genetics to Human Identity." Thesis, University of North Texas, 2008. https://digital.library.unt.edu/ark:/67531/metadc9730/.
Full textTurnbough, 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.
Full textJenkins, Dagan. "The genetics of human renal tract malformations." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445686/.
Full textChapman, Nicola H. "Genome descent in isolated populations /." Thesis, Connect to this title online; UW restricted, 2001. http://hdl.handle.net/1773/9583.
Full textCapobianco, Marcela Petrolini [UNESP]. "Polimorfismos dos Genes CD40, CD40L e BLYS, associados na co-estimulação dos Linfócitos B, em indivíduos naturalmente infectados pelo Plasmodium vivax na Amazônia Brasileira." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/92537.
Full textPlasmodium vivax é a espécie mais prevalente de malária no Brasil. O processo co-evolutivo parasita-hospedeiro pode ser visto como uma ferramenta, na qual trocas genéticas adaptativas podem influenciar na diversidade da população. Objetivo: Investigar polimorfismos de genes envolvidos na resposta imune humoral visando identificar possíveis associações com a malária. Material e Métodos: a amostra foi constiuída por 103 pacientes com malária vivax não complicada e como grupo controle 97 indíviduos não-maláricos. A identificação dos SNPs –726T>C no gene CD40L, -1 C>T no gene CD40 e -871C>T no gene BLYS foram efetuadas pelo método de PCR-RFLP. As frequências genotípicas, alélicas e de indivíduos portadores de cada alelo foram estimadas por contagem direta. Também foram comparadas as frequências genotípicas observadas com as esperadas segundo o teorema de Hardy e Weinberg. Resultados: As freqüências genotípicas e alélicas para esses SNPs não diferiram estatisticamente entre pacientes e indivíduos do grupo controle. A combinação dos genótipos entre os genes CD40 e BLYS e entre CD40L e BLYS não revelou interação gênica na população estudada. Não foi observada associação entre resposta imune humoral e parasitemia nos indivíduos maláricos com os polimorfismos dos genes investigados. Ambos os genes se encontram em equilíbrio de Hardy e Weinberg. Conclusões: Os resultados deste estudo sugerem que as variantes genéticas analisadas nos genes CD40, CD40L e BLYS não afetam a funcionalidade das moléculas de modo que possa interferir na susceptibilidade a doença, mas estas variantes podem influenciar o curso clínico em vez de simplesmente aumentar ou diminuir a susceptibilidade
Plasmodium vivax is the most prevalent malaria species in Brazil. The parasite-host coevolutionary process can be viewed as an ‘arms race’, in which adaptive genetic changes in one are eventually matched by alterations in the other. Objectives: following the candidate gene approach we analyzed the CD40, CD40L and BLYS genes that participate in B-cell co-stimulation, for associations with P. vivax malaria. Methods: the study sample included 97 patients and 103 controls. We extracted DNA using the extraction and purification commercial kit and identified the following SNPs: -1C>T in the CD40 gene, –726T>C in the CD40L gene and the -871C>T in the BLyS gene using PCR-RFLP. We analyzed the genotype and allele frequencies by direct counting. We also compared the observed with the expected genotype frequencies using the Hardy-Weinberg Equilibrium. Results: The allele and genotype frequencies for these SNPs did not differ statistically between patient and control groups. Gene-gene interactions were not observed between the CD40 and BLYS and between the CD40L and BLYS genes. Overall, the genes were in Hardy-Weinberg Equilibrium. Significant differences were not observed among the frequencies of antibody responses against P. vivax sporozoite and erythrocytic antigens and the CD40 and BLYS genotypes Conclusions: the results of this study show that, although the investigated CD40, CD40L and BLYS alleles differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere in susceptibility to the disease. Significance: The variants of these genes may influence the clinical course rather than simply increase or decrease susceptibility
Pauls, David G. "Evangelical attitudes towards human enhancement a survey of the Midwest District of the Evangelical Free Church of America /." Theological Research Exchange Network (TREN) Theological Research Exchange Network (TREN) Access this title online, 2006. http://www.tren.com.
Full textNorwitz, Errol R. "Prostaglandin production by human decidual cells." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314894.
Full textNicholl, Amanda Jayne. "Volume regulation in human cancer cells." Thesis, University of Huddersfield, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368311.
Full textBrookes, 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.
Full textDaniels, 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.
Full textXu, Xiao. "Human alpha defensin CNV haplotype diversity." Thesis, University of Nottingham, 2018. http://eprints.nottingham.ac.uk/51262/.
Full textRootsi, Siiri. "Human Y-chromosomal variation in European populations /." Tartu : Tartu University Press, 2004. http://dspace.utlib.ee/dspace/bitstream/10062/1252/5/rootsi.pdf.
Full textHaider, Ishita. "Global identification of human modifier genes of alpha-synuclein toxicity." Wright State University / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=wright1598739915162635.
Full textGao, Ling. "p53 Alterations in Human Skin : A Molecular Study Based on Morphology." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1465.
Full textMutation of the p53 gene appears to be an early event in skin cancer development. The present study is based on morphology and represents a cellular and genetic investigation of p53 alterations in normal human skin and basal cell cancer.
Using double immunofluorescent labelling, we have demonstrated an increase in thymine dimers and p53 protein expression in the same keratinocytes following ultraviolet radiation. Large inter-individual differences in the kinetics of thymine dimer repair and subsequent epidermal p53 response were evident in both sunscreen-protected and non-protected skin. The formation of thymine dimers and the epidermal p53 response were partially blocked by topical sunscreen. We have optimized a method to analyze the p53 gene in single cells from frozen tissue sections. In chronically sun-exposed skin there exist clusters of p53 immunoreactive keratinocytes (p53 clones) in addition to scattered p53 immunoreactive cells. Laser assisted microdissection was used to retrieve single keratinocytes from immunostained tissue sections, single cells were amplified and the p53 gene was sequenced. We have shown that p53 mutations are prevalent in normal skin. Furthermore, we detected an epidermal p53 clone which had prevailed despite two months of total protection from ultraviolet light. Loss of heterozygosity in the PTCH and p53 loci as well as in the sequenced p53 gene was determined in basal cell cancer from sporadic cases and in patients with Gorlin syndrome. Allelic loss in the PTCH region was prominent in both sporadic and hereditary tumors, while loss of heterozygosity in the p53 locus was rare in both groups. p53 mutations found in the hereditary tumors differed from the typical mutations found in sporadic cases. In addition, we found genetically linked subclones with partially different p53 and/or PTCH genotypes in individual tumors. Our data show that both genes are important in the development of basal cell cancer.
Warnefors, Anna Maria Linne´a. "Evolution of human gene expression." Thesis, University of Sussex, 2011. http://sro.sussex.ac.uk/id/eprint/6979/.
Full textRowell, Jennie Lynn. "GENETIC VARIATION IN THE DOMESTICATED DOG AS A MODEL OF HUMAN DISEASE." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1338237356.
Full textCrisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation." eScholarship@UMMS, 2013. https://escholarship.umassmed.edu/gsbs_diss/664.
Full textCrisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation." eScholarship@UMMS, 2006. http://escholarship.umassmed.edu/gsbs_diss/664.
Full text林大偉 and Tai-wai Lam. "Structural organization, transcriptional regulation and chromosomal localization of the human secretin gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31224593.
Full textMcCann, 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.
Full textWilms' 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.
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.
Full textSarma, Ushasri. "Regulation of human osteoclast formation 17β estradiol." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312178.
Full textFisher, 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.
Full text