Other Genetics and Genomics Commons^™

The Basis And Implications Of Genetic Counseling In Patient Testing Choice, Yanina Tovpeko

Honors Capstone Projects - All

Perinatal genetic counseling is a health service provided to patients who carry risk factors for genetic abnormalities for their offspring. There are several non-invasive and invasive tests offered to patients in order to provide genetic information about possible disorders. The non-invasive screens calculate a percentage of risk relative to average population risk. If the non-invasive screens predict an elevated risk, a more invasive test can be offered to obtain definitive results about possible disorders in the pregnancy. The most commonly used invasive test is called amniocentesis and it carries a risk for pregnancy complications. After receiving abnormal results on the …

Micrornas Are Independent Predictors Of Outcome In Diffuse Large B-Cell Lymphoma Patients Treated With R-Chop, Goldi Kozloski

Goldi A Kozloski

Molecular Correlates Of Social Dominance: A Novel Role For Ependymin In Aggression, Lynne U. Sneddon, Rupert Schmidt, Yongxiang Fang, Andrew R. Cossins

Ethology Collection

Theoretical and empirical studies have sought to explain the formation and maintenance of social relationships within groups. The resulting dominance hierarchies have significant fitness and survival consequences dependent upon social status. We hypothesised that each position or rank within a group has a distinctive brain gene expression profile that correlates with behavioural phenotype. Furthermore, transitions in rank position should determine which genes shift in expression concurrent with the new dominance status. We used a custom cDNA microarray to profile brain transcript expression in a model species, the rainbow trout, which forms tractable linear hierarchies. Dominant, subdominant and submissive individuals had …

Exploring Demographic, Physical, And Historical Explanations For The Genetic Structure Of Two Lineages Of Greater Antillean Bats, Robert A. Muscarella, Kevin L. Murray, Derek Ortt, Amy L. Russell, Theodore H. Fleming

Amy L. Russell

Physiological And Genetic Correlates Of Boldness: Characterising The Mechanisms Of Behavioural Variation In Rainbow Trout, Oncorhynchus Mykiss, Jack S. Thomson, Phillip C. Watts, T. G. Pottinger, Lynne U. Sneddon

Ethology Collection

Bold, risk-taking animals have previously been putatively linked with a proactive stress coping style whereas it is suggested shyer, risk-averse animals exhibit a reactive coping style. The aim of this study was to investigate whether differences in the expression of bold-type behaviour were evident within and between two lines of rainbow trout, Oncorhynchus mykiss, selectively bred for a low (LR) or high (HR) endocrine response to stress, and to link boldness and stress responsiveness with the expression of related candidate genes. Boldness was determined in individual fish over two trials by measuring the latency to approach a novel object. Differences …

Physiological And Genetic Correlates Of Boldness: Characterising The Mechanisms Of Behavioural Variation In Rainbow Trout, Oncorhynchus Mykiss, Jack S. Thomson, Phillip C. Watts, Tom G. Pottinger, Lynne U. Sneddon

Aquaculture Collection

Bold, risk-taking animals have previously been putatively linked with a proactive stress coping style whereas it is suggested shyer, risk-averse animals exhibit a reactive coping style. The aim of this study was to investigate whether differences in the expression of bold-type behaviour were evident within and between two lines of rainbow trout, Oncorhynchus mykiss, selectively bred for a low (LR) or high (HR) endocrine response to stress, and to link boldness and stress responsiveness with the expression of related candidate genes. Boldness was determined in individual fish over two trials by measuring the latency to approach a novel object. Differences …

Gene-Environment Interactions, Criminal Responsibility, And Sentencing, Stephen J. Morse

All Faculty Scholarship

This chapter in, Gene-Environment Interactions in Developmental Psychopathology (K. Dodge & M. Rutter, eds. 2011), considers the relevance of GxE to criminal responsibility and sentencing. It begins with a number of preliminary assumptions that will inform the analysis. It then turns to the law’s view of the person, including the law’s implicit psychology, and the criteria for criminal responsibility. A few false starts or distractions about responsibility are disposed of briefly. With this necessary background in place, the chapter then turns specifically to the relation between GxE and criminal responsibility. It suggests that GxE causes of criminal behavior have no …

Efficient Replication Of Over 180 Genetic Associations With Self-Reported Medical Data, Joyce Y. Tung, Chuong B. Do, David A. Hinds, Amy K. Kiefer, J. Michael Macpherson, Arnab B. Chowdry, Uta Francke, Brian Naughton, Joanna Mountain, Anne Wojcicki, Nicholas Eriksson

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we …

Dorsal Eye Selector Pannier (Pnr) Suppresses The Eye Fate To Define Dorsal Margin Of The Drosophila Eye, Sarah M. Oros, Meghana Tare, Madhuri Kango-Singh, Amit Singh

Biology Faculty Publications

Axial patterning is crucial for organogenesis. During Drosophila eye development, dorso-ventral (DV) axis determination is the first lineage restriction event. The eye primordium begins with a default ventral fate, on which the dorsal eye fate is established by expression of the GATA-1 transcription factor pannier (pnr). Earlier, it was suggested that loss of pnr function induces enlargement in the dorsal eye due to ectopic equator formation. Interestingly, we found that in addition to regulating DV patterning, pnr suppresses the eye fate by downregulating the core retinal determination genes eyes absent (eya), sine oculis (so) and dacshund (dac) to define the …

Mechanistic And Signaling Analysis Of Muc4-Erbb2 Signaling Module: New Insights Into The Mechanism Of Ligand-Independent Erbb2 Activity, Goldi Kozloski

Goldi A Kozloski

Investigating Genetic Diversity Of Phytophthora Spp. And Related Oomycetes, Jonathan Patrick Hulvey

Doctoral Dissertations

Oomycetes, like fungi, are filamentous heterotrophs, but unlike true fungi are diploid and share a photosynthetic ancestor. Many of these organisms are plant and animal pathogens, and members of the genus Phytophthora cause devastating disease on a diverse array of agricultural plant hosts. Several diverse topics in oomycete biology are investigated in this dissertation. Chapter 2 is a report on loss of heterozygosity in Phytophthora capsici in response to chemical mutagenesis.The research presented in Chapters 3 and 4 are centered on documenting biodiversity and genetic diversity of populations of Phytophthora species obtained from infected plant hosts. The final chapter (Chapter …

Characterizing A Novel Genetic Locus Associated With Familial Co-Occurrence Of Thoracic Aortic Aneurysms And Intracranial Aneurysms, Alexander H. Li

Dissertations & Theses (Open Access)

The Mendelian inheritance of genetic mutations can lead to adult-onset cardiovascular disease. Several genetic loci have been mapped for the familial form of Thoracic Aortic Aneurysms (TAA), and many causal mutations have been identified for this disease. Intracranial Aneurysms (ICA) also show linkage heterogeneity, but no mutations have been identified causing familial ICA alone.

Here, we characterized a large family (TAA288) with an autosomal dominant pattern of inherited aneurysms. It is intriguing that female patients predominantly present with ICA and male patients predominantly with TAA in this family. To identify a causal mutation in this family, a genome-wide linkage analysis …

Automated Discovery Of Pedigrees And Their Structures In Collections Of Str Dna Specimens Using A Link Discovery Tool, Alex Brian Haun

Masters Theses

In instances of mass fatality, such as plane crashes, natural disasters, or terrorist attacks, investigators may encounter hundreds or thousands of DNA specimens representing victims. For example, during the January 2010 Haiti earthquake, entire communities were destroyed, resulting in the loss of thousands of lives. With such a large number of victims the discovery of family pedigrees is possible, but often requires the manual application of analytical methods, which are tedious, time-consuming, and expensive. The method presented in this thesis allows for automated pedigree discovery by extending Link Discovery Tool (LDT), a graph visualization tool designed for discovering linkages in …

Non-Invasive Genetic Sampling Of Faecal Material And Hair From The Grey-Headed Flying-Fox (Pteropus Poliocephalus), Heather J. Baldwin, Stephen J. Hoggard, Stephanie T. Snoyman, Adam J. Snow, Culum Brown

Veterinary Science and Medicine Collection

Remote-sampling DNA from animals offers obvious benefits for species that are difficult to sample directly and is less disruptive for species of conservation concern. Here we report the results of a pilot study investigating non-invasive DNA sampling of the grey-headed flying-fox (Pteropus poliocephalus), a threatened species that is restricted to the east coast of Australia. We successfully extracted DNA from fresh scats and hair, each of which was of sufficient quality for amplifying mitochondrial DNA markers and microsatellites. A single-locus multitube approach was used to investigate amplification success and genotyping reliability. Faecal samples yielded a higher proportion of successful amplifications …

Trait Selection And Welfare Of Genetically Engineered Animals In Agriculture, Michael Greger

Genetics Collection

The release of the Final Guidance from the US Food and Drug Administration on the commercialization of genetically engineered animals has sparked renewed discussion over the ethical, consumer, and regulatory implications of transgenesis in animal agriculture. Animal welfare critiques have focused on unexpected phenotypic effects in animals used in transgenic research, rather than on the health and welfare implications of the intended productivity enhancement. Unless breeding goals are redefined to reflect social concerns, the occurrence and magnitude of undesirable side effects may increase and consumer confidence in the nascent technology may be undermined.