Genomic imprinting refers to the parent-of-origin specific monoallelic expression of a gene. Imprinted genes are often clustered in the genome and their expression is regulated by an imprinting centre (IC). ICs are regions of DNA that propagate the parental specific regulation of gene expression, which are usually characterized by differential DNA methylation, histone marks and the presence of non-coding RNAs. Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with the dysregulation of imprinted gene expression on human chromosome band 11p15.5. The 11p15.5 imprinted region has two imprinting centres, IC1 and IC2. IC1 is telomeric and regulates the imprinted expression of the genes H19 and IGF2. IC2 is ~700kb centromeric and is associated with a cluster of nine imprinted genes including CDKN1C, KCNQ1 and an imprinted non-coding RNA associated with IC2, KCNQ1OT1. Loss of differential DNA methylation at IC2 is seen in 50% of patients with BWS with loss of imprint of the non-coding RNA KCNQ1OT1 and associated with a decreased expression of the putative tumour suppressor CDKN1C. Patients with BWS also have a thousand-fold increased risk of pediatric cancer. The focus of this thesis involves investigation of dysregulation of imprinting in three groups of BWS patients. Firstly, I show that BWS patients with alveolar rhabdomyosarcoma have constitutional loss of methylation at IC2 and biallelic expression of KCNQ1OT1. Secondly, loss of methylation at IC2 has been previously associated with female monozygotic twins discordant for BWS. In male monozygotic twins with BWS, however, the molecular lesions reflect the molecular heterogeneity seen in BWS singletons. Thirdly, BWS patients associated with translocations and inversions that have breakpoints within the KCNQ1 gene near IC2 show regional gain of DNA methylation around the breakpoint and decreased expression of CDKN1C. Therefore, using a rare collection of BWS patients, I have attempted to determine the various roles of the imprinting centres IC1 and IC2 and their involvement in tumourigenesis, monozygotic twinning and structural chromosomal rearrangements causing BWS.

University of Macau / Faculty of Social Sciences and Humanities / Department of English

Genomic imprinting refers to the parent-of-origin specific monoallelic expression of a gene. Imprinted genes are often clustered in the genome and their expression is regulated by an imprinting centre (IC). ICs are regions of DNA that propagate the parental specific regulation of gene expression, which are usually characterized by differential DNA methylation, histone marks and the presence of non-coding RNAs. Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with the dysregulation of imprinted gene expression on human chromosome band 11p15.5. The 11p15.5 imprinted region has two imprinting centres, IC1 and IC2. IC1 is telomeric and regulates the imprinted expression of the genes H19 and IGF2. IC2 is ~700kb centromeric and is associated with a cluster of nine imprinted genes including CDKN1C, KCNQ1 and an imprinted non-coding RNA associated with IC2, KCNQ1OT1. Loss of differential DNA methylation at IC2 is seen in 50% of patients with BWS with loss of imprint of the non-coding RNA KCNQ1OT1 and associated with a decreased expression of the putative tumour suppressor CDKN1C. Patients with BWS also have a thousand-fold increased risk of pediatric cancer. The focus of this thesis involves investigation of dysregulation of imprinting in three groups of BWS patients. Firstly, I show that BWS patients with alveolar rhabdomyosarcoma have constitutional loss of methylation at IC2 and biallelic expression of KCNQ1OT1. Secondly, loss of methylation at IC2 has been previously associated with female monozygotic twins discordant for BWS. In male monozygotic twins with BWS, however, the molecular lesions reflect the molecular heterogeneity seen in BWS singletons. Thirdly, BWS patients associated with translocations and inversions that have breakpoints within the KCNQ1 gene near IC2 show regional gain of DNA methylation around the breakpoint and decreased expression of CDKN1C. Therefore, using a rare collection of BWS patients, I have attempted to determine the various roles of the imprinting centres IC1 and IC2 and their involvement in tumourigenesis, monozygotic twinning and structural chromosomal rearrangements causing BWS.

The development of accurate and reliable security systems is a matter of wide interest, and in this context biometrics is seen as a highly effective automatic mechanism for personal identification. Among biometric technologies, IrisCode developed by Daugman in 1993 is regarded as a highly accurate approach, being able to support real-time personal identification of large databases. Since 1993, on the top of IrisCode, different coding methods have been proposed for iris and fingerprint identification. In this research, I extend and generalize IrisCode for real-time secure palmprint identification. PalmCode, the first coding method for palmprint identification developed by me in 2002, directly applied IrisCode to extract phase information of palmprints as features. However, I observe that the PalmCodes from the different palms are similar, having many 45o streaks. Such structural similarities in the PalmCodes of different palms would reduce the individuality of PalmCodes and the performance of palmprint identification systems. To reduce the correlation between PalmCodes, in this thesis, I employ multiple elliptical Gabor filters with different orientations to compute different PalmCodes and merge them to produce a single feature, called Fusion Code. Experimental results demonstrate that Fusion Code performs better than PalmCode. Based on the results of Fusion Code, I further identify that the orientation fields of palmprints are powerful features. Consequently, Competitive Code, which uses real parts of six Gabor filters to estimate the orientation fields, is developed. To embed the properties of IrisCode, such as high speed matching, in Competitive Code, a novel coding scheme and a bitwise angular distance are proposed. Experimental results demonstrate that Competitive Code is much more effective than other palmprint algorithms. Although many coding methods have been developed based on IrisCode for iris and palmprint identification, we lack a detailed analysis of IrisCode. One of the aims of this research is to provide such analysis as a way of better understanding IrisCode, extending the coarse phase representation to a precise phase representation, and uncovering the relationship between IrisCode and other coding methods. This analysis demonstrates that IrisCode is a clustering process with four prototypes; the locus of a Gabor function is a two-dimensional ellipse with respect to a phase parameter and the bitwise hamming distance can be regarded as a bitwise angular distance. In this analysis, I also point out that the theoretical evidence of the imposter binomial distribution of IrisCode is incomplete. I use this analysis to develop a precise phase representation which can enhance iris recognition accuracy and to relate IrisCode and other coding methods. By making use of this analysis, principal component analysis and simulated annealing, near optimal filters for palmprint identification are sought. The near optimal filters perform better than Competitive Code in term of d’ index. Identical twins having the closest genetics-based relationship are expected to have maximum similarity in their biometrics. Classifying identical twins is a challenging problem for some automatic biometric systems. Palmprint has been studied for personal identification for many years. However, genetically identical palmprints have not been studied. I systemically examine Competitive Code on genetically identical palmprints for automatic personal identification and to uncover the genetically related palmprint features. The experimental results show that the three principal lines and some portions of weak lines are genetically related features but our palms still contain rich genetically unrelated features for classifying identical twins. As biometric systems are vulnerable to replay, database and brute-force attacks, such potential attacks must be analyzed before they are massively deployed in security systems. I propose projected multinomial distribution for studying the probability of successfully using brute-force attacks to break into a palmprint system based on Competitive Code. The proposed model indicates that it is computationally infeasible to break into the palmprint system using brute-force attacks. In addition to brute-force attacks, I address the other three security issues: template re-issuances, also called cancellable biometrics, replay attacks, and database attacks. A random orientation filter bank (ROFB) is used to generate cancellable Competitive Codes for templates re-issuances. Secret messages are hidden in templates to prevent replay and database attacks. This technique can be regarded as template watermarking. A series of analyses is provided to evaluate the security levels of the measures.

Global increase in energy consumption and global warming require more energy production but less CO2emission. Increase in efficiency of energy production is an effective way for this purpose. This can be reached by increasing boiler temperature and pressure in a biomass power plant. By increasing material temperature 50°C, the efficiency in biomass power plants can be increased significantly and the CO2emission can be greatly reduced. However, the materials used for future biomass power plants with higher temperature require improved properties. Austenitic stainless steels are used in most biomass power plants. In austenitic stainless steels a phenomenon called dynamic strain aging (DSA), can occur in the operating temperature range for biomass power plants. DSA is an effect of interaction between moving dislocations and solute atoms and occurs during deformation at certain temperatures. An investigation of DSA influences on ductility in austenitic stainless steels and nickel base alloys have been done. Tensile tests at room temperature up to 700°C and scanning electron microscope investigations have been used. Tensile tests revealed that ductility increases with increased temperature for some materials when for others the ductility decreases. This is, probably due to formation of twins. Increased stacking fault energy (SFE) gives increased amount of twins and high nickel content gives a higher SFE. Deformation mechanisms observed in the microstructure are glide bands (or deformations band), twins, dislocation cells and shear bands. Damage due to DSA can probably be related to intersection between glide bands or twins, see figure 6 a). Broken particles and voids are damage mechanisms observed in the microstructure.

The development of accurate and reliable security systems is a matter of wide interest, and in this context biometrics is seen as a highly effective automatic mechanism for personal identification. Among biometric technologies, IrisCode developed by Daugman in 1993 is regarded as a highly accurate approach, being able to support real-time personal identification of large databases. Since 1993, on the top of IrisCode, different coding methods have been proposed for iris and fingerprint identification. In this research, I extend and generalize IrisCode for real-time secure palmprint identification. PalmCode, the first coding method for palmprint identification developed by me in 2002, directly applied IrisCode to extract phase information of palmprints as features. However, I observe that the PalmCodes from the different palms are similar, having many 45o streaks. Such structural similarities in the PalmCodes of different palms would reduce the individuality of PalmCodes and the performance of palmprint identification systems. To reduce the correlation between PalmCodes, in this thesis, I employ multiple elliptical Gabor filters with different orientations to compute different PalmCodes and merge them to produce a single feature, called Fusion Code. Experimental results demonstrate that Fusion Code performs better than PalmCode. Based on the results of Fusion Code, I further identify that the orientation fields of palmprints are powerful features. Consequently, Competitive Code, which uses real parts of six Gabor filters to estimate the orientation fields, is developed. To embed the properties of IrisCode, such as high speed matching, in Competitive Code, a novel coding scheme and a bitwise angular distance are proposed. Experimental results demonstrate that Competitive Code is much more effective than other palmprint algorithms. Although many coding methods have been developed based on IrisCode for iris and palmprint identification, we lack a detailed analysis of IrisCode. One of the aims of this research is to provide such analysis as a way of better understanding IrisCode, extending the coarse phase representation to a precise phase representation, and uncovering the relationship between IrisCode and other coding methods. This analysis demonstrates that IrisCode is a clustering process with four prototypes; the locus of a Gabor function is a two-dimensional ellipse with respect to a phase parameter and the bitwise hamming distance can be regarded as a bitwise angular distance. In this analysis, I also point out that the theoretical evidence of the imposter binomial distribution of IrisCode is incomplete. I use this analysis to develop a precise phase representation which can enhance iris recognition accuracy and to relate IrisCode and other coding methods. By making use of this analysis, principal component analysis and simulated annealing, near optimal filters for palmprint identification are sought. The near optimal filters perform better than Competitive Code in term of d’ index. Identical twins having the closest genetics-based relationship are expected to have maximum similarity in their biometrics. Classifying identical twins is a challenging problem for some automatic biometric systems. Palmprint has been studied for personal identification for many years. However, genetically identical palmprints have not been studied. I systemically examine Competitive Code on genetically identical palmprints for automatic personal identification and to uncover the genetically related palmprint features. The experimental results show that the three principal lines and some portions of weak lines are genetically related features but our palms still contain rich genetically unrelated features for classifying identical twins. As biometric systems are vulnerable to replay, database and brute-force attacks, such potential attacks must be analyzed before they are massively deployed in security systems. I propose projected multinomial distribution for studying the probability of successfully using brute-force attacks to break into a palmprint system based on Competitive Code. The proposed model indicates that it is computationally infeasible to break into the palmprint system using brute-force attacks. In addition to brute-force attacks, I address the other three security issues: template re-issuances, also called cancellable biometrics, replay attacks, and database attacks. A random orientation filter bank (ROFB) is used to generate cancellable Competitive Codes for templates re-issuances. Secret messages are hidden in templates to prevent replay and database attacks. This technique can be regarded as template watermarking. A series of analyses is provided to evaluate the security levels of the measures.

This thesis concerns female cross-dressing in nineteenth-century literature and the ways in which these images challenge gender and class hierarchies. Cross-dressing abounds in nineteenth-century literature, forming a thematic that crosses national boundaries. Therefore, this thesis considers works from both the British and American traditions. The primary texts explored are The Tenor and the Boy (1893) by Sarah Grand and The Hidden Hand, or Capitola the Madcap (1888) by E. D. E. N. Southworth. When published, both of these texts were commercial successes and can therefore be considered representative of popular literature of the time. The use of transvestite characters allows these authors to demonstrate the arbitrary nature of gender and class roles. When cross-dressed, female characters cross both gender and class lines and participate in usually taboo arenas. For the most part, they are depicted as successful; at times, they might even be considered role models.The thesis contains four chapters: the introductory chapter which sets up definitions, briefly discusses cross-dressing's literary tradition in the west, and establishes the atmosphere in which these books were written and received; the next two chapters each examine a primary text--- The Tenor and the Boy, followed by The Hidden Hand; and the final chapter summarizes and concludes the work.

No description available.

Thesis (M.D.)-University of Natal, Durban, 1979.

Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. Structural changes in the human genome are a major type of inter-individual genetic variation and copy number variation (CNV), involving changes in the copy number of genes, are one of the best studied category of structural genetic changes. In paper I we reported a pair of healthy female monozygotic (MZ) twins discordant for aneuploidy of chromosomes X and Y, contributing to the delineation of the frequency of somatic variation in MZ twins. It also illustrates the plasticity of the genome for tolerating large aberrations in healthy subjects. In paper II we showed age-related accumulation of copy number variation in the nuclear genomes in vivo for both megabase- and kilobase-range variants. Using age-stratified MZ twins and single-born subjects, we detected megabase-range aberrations in 3.4% of people ≥60 years old but not in individuals younger than 55 years. Moreover, the longitudinal analysis of subjects with aberrations suggests that the aberrant cell clones are not immortalized and disappear from circulation. We also showed that sorted blood cells display different genomic profiles.  The detected recurrent rearrangements are candidates for common age-related defects in blood cells. This work might help to describe the cause of an age-related decline in the number of cell clones in the blood, which is one of the hallmarks of immunosenescence. In paper III we described a variable number tandem repeat (VNTR) ~4 kb upstream of the IFNAR1 gene, which was somatically variable.  We detected 14 alleles displaying inter- and intra-individual variation. Further analyses indicated strong clustering of transcription factor binding sites within this region, suggesting an enhancer. This putative VNTR-based enhancer might influence the transcriptional regulation of neighboring cytokine receptor genes and the pathways they are involved in. These three studies stress the importance of research on post-zygotic variation in genetics. Furthermore, they emphasize that biobanks should consider sampling of multiple tissues to better address this issue in the genetic studies.