Genetics and Genomics Commons^™

The Torsion Angle Of Random Walks, Mu He

Masters Theses & Specialist Projects

In this thesis, we study the expected mean of the torsion angle of an n-step
equilateral random walk in 3D. We consider the random walk is generated within a confining sphere or without a confining sphere: given three consecutive vectors ^→e₁ , ^→e₂ , and ^→e₃ of the random walk then the vectors ^→e₁ and ^→e₂ define a plane and the vectors ^→e₂ and ^→e₃ define a second plane. The angle between the two planes is called the torsion angle of the three vectors. Algorithms are …

Engaging Students In A Bioinformatics Activity To Introduce Gene Structure And Function, Barbara J. May

Biology Faculty Publications

Bioinformatics spans many fields of biological research and plays a vital role in mining and analyzing data. Therefore, there is an ever-increasing need for students to understand not only what can be learned from this data, but also how to use basic bioinformatics tools. This activity is designed to provide secondary and undergraduate biology students to a hands-on activity meant to explore and understand gene structure with the use of basic bioinformatic tools. Students are provided an “unknown” sequence from which they are asked to use a free online gene finder program to identify the gene. Students then predict the …

An Automatic Framework For Embryonic Localization Using Edges In A Scale Space, Zachary Bessinger

Masters Theses & Specialist Projects

Localization of Drosophila embryos in images is a fundamental step in an automatic computational system for the exploration of gene-gene interaction on Drosophila. Contour extraction of embryonic images is challenging due to many variations in embryonic images. In the thesis work, we develop a localization framework based on the analysis of connected components of edge pixels in a scale space. We propose criteria to select optimal scales for embryonic localization. Furthermore, we propose a scale mapping strategy to compress the range of a scale space in order to improve the efficiency of the localization framework. The effectiveness of the proposed …

Characterization Of Aebp2 Mutant Mice, Arundhati Bakshi

Honors Capstones

No abstract provided.

Parentage Analysis And Conservation Genetics Educational Material For The Eastern Hellbender Salamander, Cryptobranchus Alleganiensis Alleganiensis, Sarah A. Chudyk

Master's Projects

Populations of the Eastern hellbender salamander, Cryptobranchus alleganiensis alleganiensis, are declining, making this a species of special concern in New York State and under consideration for Federal Endangered Species listing. As a result of this decline, the New York State Department of Environmental Conservation and the Buffalo Zoo initiated a headstarting program with an egg mass found in the Allegheny River drainage. The juveniles being raised by the Zoo will be released back into the watershed and so understanding the genetic diversity and parentage of these hellbenders will inform the reintroduction efforts. Furthermore, in order to determine how to …

Effects Of Ergot Alkaloids And Bovine Bodily Fluids On Cytochrome P450 Activity, Nicholas Scott Ezell

Graduate Theses and Dissertations

This thesis evaluates the Promega^TM P450-Glo assay (Promega^TM V9800) as a tool for quantifying ergot alkaloid concentration. Current techniques used for detection of ergot alkaloids are slow and expensive, do not detect all ergot alkaloids, or are not effective on bovine bodily fluids. The first study was conducted to determine effects of commercial ergot alkaloids (n = 6; 0 - 400 μM) on the Promega^TM P450-Glo assay. Cytochrome P450 (CYP450) activity in assay had a differential response to each ergot alkaloid and concentration. As concentrations of ergotamine, dihydroergotamine, ergocornine, and ergocryptine increased CYP450 activity was inhibited (P …

Analysis Of The Chondroitinase Operon Of Flavobacterium Columnare, Erin L. Sorlien

Senior Honors Projects

Analysis of the chondroitinase operon of Flavobacterium columnare

Erin Sorlien

Major

Cell and Molecular Biology, Chemistry

Advisor

Dr. David R. Nelson

Date

May 2, 2013

Keywords

Flavobacterium columnare, columnaris disease, chondroitin AC lyase, complementation, csl operon

Abstract
Flavobacterium columnare, an opportunistic bacterial pathogen of fish, is the causative agent of columnaris disease (CD). The bacterium is a Gram-negative rod that exhibits gliding motility and avidly forms biofilms. CD affects both wild and cultured freshwater fish, and continues to cause large economic losses to the fish farming industry. According to an investigation conducted by the National Animal Health Monitoring System, CD …

Identification Of Genetic Determinants Of Metastasis And Clonal Relationships Between Primary And Metastatic Tumors, Gaurav Singhal

All Theses and Dissertations (ETDs)

No abstract provided.

Molecular And Genomic Based Insights Into The Evolution Of Enterococcus Faecium From Commensal To Hospital-Adapted Pathogen, Jessica R. Galloway-Pena

Dissertations and Theses (Open Access)

The basis for the recent transition of Enterococcus faecium from a primarily commensal organism to one of the leading causes of hospital-acquired infections in the United States is not yet understood. To address this, the first part of my project assessed isolates from early outbreaks in the USA and South America using sequence analysis, colony hybridizations, and minimal inhibitory concentrations (MICs) which showed clinical isolates possess virulence and antibiotic resistance determinants that are less abundant or lacking in community isolates. I also revealed that the level of ampicillin resistance increased over time in clinical strains. By sequencing the pbp5 gene, …

The Natural And Orthogonal Interaction (Noia) Models For Quantitative Traits (Qts) And Complex Diseases, Feifei Xiao

Dissertations and Theses (Open Access)

My dissertation focuses on developing methods for gene-gene/environment interactions and imprinting effect detections for human complex diseases and quantitative traits. It includes three sections: (1) generalizing the Natural and Orthogonal interaction (NOIA) model for the coding technique originally developed for gene-gene (GxG) interaction and also to reduced models; (2) developing a novel statistical approach that allows for modeling gene-environment (GxE) interactions influencing disease risk, and (3) developing a statistical approach for modeling genetic variants displaying parent-of-origin effects (POEs), such as imprinting.

In the past decade, genetic researchers have identified a large number of causal variants for human genetic diseases and …

Knowledge And Expectations Of Support People In Prenatal Genetic Counseling Sessions, Michelle A. Mcdougle

Dissertations and Theses (Open Access)

Prenatal genetic counseling patients have the ability to choose from a myriad of screening and diagnostic testing options, each with intricacies and caveats regarding accuracy and timing. Decisions regarding such testing can be difficult and are often made on the same day that testing is performed. Therefore, it is reasonable to consider that the support people brought to an appointment may have a role in the decision-making process. We aimed to better define this potential role by examining the incoming knowledge and expectations of support people who attended prenatal genetic counseling appointments.

Support people were asked to complete a survey …

Mismatch Repair Deficient Tumors Lacking Known Sporadic Causes: Are They All Due To Lynch Syndrome?, Katherine M. Dempsey

Dissertations and Theses (Open Access)

BACKGROUND: Mismatch repair deficient (MMRD) colorectal (CRC) or endometrial (EC) cancers in the absence of MLH1 promoter hypermethylation and BRAF mutations are suggestive of Lynch syndrome (LS). Positive germline genetic test results confirm LS. It is unclear if individuals with MMRD tumors but no identified germline mutation or sporadic cause (MMRD+/germline-) have LS.

HYPOTHESIS: Since LS is hereditary, individuals with LS should have a stronger family history of LS-related cancers than individuals with sporadic tumors. We hypothesized that MMRD+/germline- CRC and/or EC patients would have less suggestive family histories than LS CRC and/or EC patients.

METHODS: 253 individuals with an …

Delayed Thrombus Resolution And Fibroproliferative Vascular Wound Healing From Deficiency Of Type Iii Collagen: A Paradoxical Mechanism For Tissue Fragility, Amy J. Reid

Dissertations and Theses (Open Access)

Vascular Ehlers-Danlos syndrome is a heritable disease of connective tissue caused by mutations in COL3A1, conferring a tissue deficiency of type III collagen. Cutaneous wounds heal poorly in these patients, and they are susceptible to spontaneous and catastrophic rupture of expansible hollow organs like the gut, uterus, and medium-sized to large arteries, which leads to premature death. Although the predisposition for organ rupture is often attributed to inherent tissue fragility, investigation of arteries from a haploinsufficient Col3a1 mouse model (Col3a1^+/-) demonstrates that mutant arteries withstand even supraphysiologic pressures comparably to wild-type vessels. We hypothesize that injury …

Small Interfering Rna-Mediated Translation Repression Alters Ribosome Sensitivity To Inhibition By Cycloheximide In Chlamydomonas Reinhardtii, Xinrong Ma

School of Biological Sciences: Dissertations, Theses, and Student Research

RNA interference (RNAi) is an evolutionarily conserved gene silencing mechanism in eukaryotes, with regulatory roles in a variety of biological processes, including cell cycle, cell differentiation, physiological and metabolic pathways, and stress responses. RNAi can function by transcriptional silencing, mRNA target cleavage, translation repression and/or DNA elimination. In this study, we used the unicellular green alga Chlamydomonas reinhardtii as a model system to study RNAi-mediated translation repression. We demonstrated that small RNAs (sRNAs) generated from exogenously introduced inverted repeat transgenes, with perfect complementarity to the 3’UTR of a target transcript, can inhibit protein synthesis, without or with only minimal mRNA …

Geometric Framework For Evaluating Rare Variant Tests Of Association, Keli Liu, Shannon Fast, Matthew Zawistowski, Nathan L. Tintle

Faculty Work Comprehensive List

The wave of next-generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous statistical methods have been proposed to aggregate association signals across multiple rare variant sites in an effort to increase statistical power; however, the precise relation between the tests is often not well understood. We present a geometric representation for rare variant data in which rare allele counts in case and control samples are treated as vectors in Euclidean space. The geometric framework facilitates a rigorous classification of existing rare …

Optimal Methods For Using Posterior Probabilities In Association Testing, Keli Liu, Alexander Luedtke, Nathan L. Tintle

Faculty Work Comprehensive List

Objective: The use of haplotypes to impute the genotypes of unmeasured single nucleotide variants continues to rise in popularity. Simulation results suggest that the use of the dosage as a one-dimensional summary statistic of imputation posterior probabilities may be optimal both in terms of statistical power and computational efficiency; however, little theoretical understanding is available to explain and unify these simulation results. In our analysis, we provide a theoretical foundation for the use of the dosage as a one-dimensional summary statistic of genotype posterior probabilities from any technology. Methods: We analytically evaluate the dosage, mode and the more general set …

Genetic Imbalances In Endometriosis Detected By Oligonucleotide-Array Based Comparative Genomic Hybridization, Natalie Burke

Electronic Theses and Dissertations

Endometriosis is one of the most common gynecological diseases as it is thought to affect up to 15% of the female population. Characterized by the growth and proliferation of endometrial tissue outside of the uterine cavity, it is a complex condition with varying degrees of severity and can affect multiple regions of the body with symptoms ranging from a total lack of symptoms to debilitating pain and infertility. The most accepted theory of how endometriosis initiates is that of retrograde menstruation; however, approximately 90% of women with unobstructed fallopian tubes are thought to have some menstrual debris in the peritoneal …

Genetic Structure Of The Copperhead (Viperidae: Agkistrodon Contortrix Mokasen) At Its Most Northern Distribution, Brenna Aaren Levine

Graduate Theses and Dissertations

The focus of molecular studies in North American pitvipers has been on species that warrant conservation concern, such as Timber (Crotalus horridus) and Massasauga rattlesnakes (Sistrurus catenatus). Scant effort has been directed towards the molecular ecology of the Copperhead (Agkistrodon contortrix), other than to evaluate male reproduction in a laboratory setting and phylogenetic history. Thus, employing DNA-based molecular techniques to study the natural history of A. contortrix will broaden our knowledge of molecular ecology in North American pitvipers, and particularly in a non-threatened species that can serve as a surrogate for threatened and endangered …

Control Of Neuroendocrine Cell Physiology By A Single Transcription Factor, Drosophila Basic Helix Loop Helix Regulator Dimmed, Tarik Hadzic

All Theses and Dissertations (ETDs)

Neuroendocrine cells feature a large capacity for the processing, accumulation and regulated release of bioactive peptides and peptide hormones. The ultrastructural correlate of this regulated secretory pathway is a specialized organelle, called a dense core vesicle: DCV). DCVs are typically larger than conventional, small synaptic vesicles. Past work has identified intrinsic DCV proteins: non-cargo proteins, like the processing enzyme, carboxypeptidase) or ancillary ones that play a role in DCV trafficking and exocytosis: like CAPS, the Ca2+-dependent activator protein for secretion). Currently, there is a lack of understanding of the developmental and physiological mechanisms that permit neurosecretory cells to coordinate and …

High Sine Rna Expression Correlates With Post-Transcriptional Downregulation Of Brca1, Maureen Peterson, Vicki Chandler, Giovanni Bosco

Dartmouth Scholarship

Short Interspersed Nuclear Elements (SINEs) are non-autonomous retrotransposons that comprise a large fraction of the human genome. SINEs are demethylated in human disease, but whether SINEs become transcriptionally induced and how the resulting transcripts may affect the expression of protein coding genes is unknown. Here, we show that downregulation of the mRNA of the tumor suppressor gene BRCA1 is associated with increased transcription of SINEs and production of sense and antisense SINE small RNAs. We find that BRCA1 mRNA is post-transcriptionally down-regulated in a Dicer and Drosha dependent manner and that expression of a SINE inverted repeat with sequence identity …