Genetics and Genomics Commons^™

Gene Electrotransfer Enhanced By Nanosecond Pulsed Electric Fields, Sigi Guo, Diane L. Jackson, Niculina I. Burcus, Yeong-Jer Chen, Shu Xiao, Richard Heller

Bioelectrics Publications

The impact of nanosecond pulsed electric fields (nsPEFs) on gene electrotransfer has not been clearly demonstrated in previous studies. This study was conducted to evaluate the influence of nsPEFs on the delivery of plasmids encoding luciferase or green fluorescent protein and subsequent expression in HACAT keratinocyte cells. Delivery was performed using millisecond electric pulses (msEPs) with or without nsPEFs. In contrast to reports in the literature, we discovered that gene expression was significantly increased up to 40-fold by applying nsPEFs to cells first followed by one msEP but not in the opposite order. We demonstrated that the effect of nsPEFs …

Transcriptional Regulation Of Neurogenic Atrophy-Induced Gene Expression By Muscle Ring Finger-1 And Myogenic Regulatory Factors, Theodore Olson

UNF Graduate Theses and Dissertations

Skeletal muscle wasting is a consequence of numerous physiological conditions, including denervation, corticosteroid treatment, immobilization, and aging. The E3 ubiquitin ligases, MuRF1 and MAFbx, are induced under nearly all atrophy conditions and are believed to play a key role in protein degradation in atrophying muscle. However, the preliminary data described in this study provides new evidence that MuRF1 may also act as a transcriptional modulator of atrophy-induced gene activity, including the regulation of MAFbx and MuRF1 expression. To characterize the transcriptional regulation of MuRF1 and MAFbx, reporter gene constructs containing fragments of the proximal promoter regions of these genes were …

A Small Subset Of Fruitless Subesophageal Neurons Modulate Early Courtship In Drosophila, David Tran, Geoffrey Meissner, Rachael French, Bruce Baker

Faculty Publications, Biological Sciences

We show that a small subset of two to six subesophageal neurons, expressing the male products of the male courtship master regulator gene products fruitlessMale (fruM), are required in the early stages of the Drosophila melanogaster male courtship behavioral program. Loss of fruM expression or inhibition of synaptic transmission in these fruM(+) neurons results in delayed courtship initiation and a failure to progress to copulation primarily under visually-deficient conditions. We identify a fruM-dependent sexually dimorphic arborization in the tritocerebrum made by two of these neurons. Furthermore, these SOG neurons extend descending projections to the thorax and abdominal ganglia. These anatomical …

I Wish I Had Known This!: Impact Of Age On Life Choices And Testing Satisfaction For Brca1/2 Mutation Carriers Who Underwent Genetic Testing By Age 25, Sarah Elaine King

Theses and Dissertations

Objective: To examine if BRCA1/2 mutation carriers who received their positive genetic test result by age 25 were satisfied with their decision to undergo genetic testing and with the choices made regarding family planning, surveillance, and surgery. Methods: 72 participants recruited via social media completed a survey hosted by SurveyMonkey.com. Sixty-three met study criteria and were asked 40 quantitative and qualitative questions designed to assess family planning, surveillance, and surgery needs of young BRCA carriers, which included a six question Satisfaction with Decision Scale. Results: Regardless of age, participants were very satisfied with the decision to undergo genetic testing. Recommendations …

The Paternal Age Effect: A Preliminary Study Of Current Challenges For Prenatal Genetics Care, Andrew Tyler Gunter

Theses and Dissertations

Advanced paternal age (APA) is related to various genetic conditions, behavioral disorders, and adverse pregnancy outcomes. Since the publication of ACMG's practice guidelines on APA in 2008, much has been learned about the causes of paternal age effect (PAE) mutations and their clinical implications. However, no guidelines exist to refer these high-risk pregnancies to prenatal genetics care, nor are effective screening techniques presently available. As such, many patients are not fully-informed about the risks to their pregnancies due to possible APA effects, and neither are are the men who have fathered these pregnancies.

Our findings support that limited APA principles …

Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton

Theses and Dissertations

Purpose: This study explored opinions and attitudes of genetic counselors regarding three controversial applications of preimplantation genetic diagnosis (PGD): PGD for early-onset Alzheimer, use of embryos that are BRCA positive after PGD revealed no disease-free embryos to be available, and PGD to select against a variant of unknown significance (VUS) for Marfan syndrome. Methods: Genetic counselors were contacted through the National Society of Genetic Counselors (NSGC) electronic mailing list. Inclusion criteria required that a participant was currently practicing as a genetic counselor, was a member of the NSGC, and has counseled patients about PGD. Twenty-nine participants volunteered to participate and …

The Impact Of Culture & Ethnicity On The Counseling Process: Perspectives Of Genetic Counselors From Minority Ethnic Groups, Brittanie Morris

Theses and Dissertations

In the genetic counseling profession, discussions about cross-cultural counseling and cultural competence emphasize the importance of patient culture as well as counselor culture in a counseling session. A culturally competent counselor should be aware of the influence of her own cultural values on interactions with patients and peers (Weil, 2000; & Uhlmann, Schuette, & Yashar, 2011). Focusing specifically on counselors from cultural/ethnic minorities, this mixed-methods study sought to empirically evaluate the influence of a counselor's cultural values and ethnic identity on the genetic counseling process. 162 genetic counselors, 58 of whom self-identified as being from an ethnic minority group, completed …

Lineage-Specific Transcriptional Profiles Of Symbiodinium Spp. Unaltered By Heat Stress In A Coral Host, Daniel J. Barshis, Jason T. Ladner, Thomas A. Oliver, Stephen R. Palumbi

Biological Sciences Faculty Publications

Dinoflagellates of the genus Symbiodinium form an endosymbiosis with reef building corals, in which photosynthetically derived nutrients comprise the majority of the coral energy budget. An extraordinary amount of functional and genetic diversity is contained within the coral-associated Symbiodinium, with some phylotypes (i.e., genotypic groupings), conferring enhanced stress tolerance to host corals. Recent advances in DNA sequencing technologies have enabled transcriptome-wide profiling of the stress response of the cnidarian coral host; however, a comprehensive understanding of the molecular response to stress of coral-associated Symbiodinium, as well as differences among physiologically susceptible and tolerant types, remains largely unexplored. Here, …

A Systems Biology Approach To Detect Eqtls Associated With Mirna And Mrna Co-Expression Networks In The Nucleus Accumbens Of Chronic Alcoholic Patients, Mohammed Mamdani

Theses and Dissertations

Alcohol Dependence (AD) is a chronic substance use disorder with moderate heritability (60%). Linkage and genome-wide association studies (GWAS) have implicated a number of loci; however, the molecular mechanisms underlying AD are unclear. Advances in systems biology allow genome-wide expression data to be integrated with genetic data to detect expression quantitative trait loci (eQTL), polymorphisms that regulate gene expression levels, influence phenotypes and are significantly enriched among validated genetic signals for many commonly studied traits including AD.

We integrated genome-wide mRNA and miRNA expression data with genotypic data from the nucleus accumbens (NAc), a major addiction-related brain region, of 36 …

Multi-Species Gene Networks And Drosophila Ethanol Sedation, Arnavaz Kollah

Theses and Dissertations

Alcohol use disorders (AUDs) are major health issues with few known genetic explanations. This project used the fruit fly (Drosophila melanogaster) model to identify genes and gene networks that influence alcohol intoxication, a phenotype related to alcohol abuse in humans. We used bioinformatic tools to build gene networks based on 24 published Drosophila ethanol-responsive genes with human orthologs. We then assessed the role of these networks in ethanol sedation by testing two of the networks seeded on IP3K2, a gene that regulates calcium signaling, and CG14630, a gene involved in carnitine biosynthesis. We knocked down several genes in each of …

Genome-Wide Sequencing Of Small Rnas Reveals A Tissue-Specific Loss Of Conserved Microrna Families In Echinococcus Granulosus, Yun Bai, Zhuangzhi Zhang, Lei Jin, Hui Kang, Yongquiang Zhu, Lu Zhang, Xia Li, Fengshou Ma, Li Zhao, Et Al.

PCOM Scholarly Works

Background: MicroRNAs (miRNAs) are important post-transcriptional regulators which control growth and development in eukaryotes. The cestode Echinococcus granulosus has a complex life-cycle involving different development stages but the mechanisms underpinning this development, including the involvement of miRNAs, remain unknown. Results: Using Illumina next generation sequencing technology, we sequenced at the genome-wide level three small RNA populations from the adult, protoscolex and cyst membrane of E. granulosus. A total of 94 pre-miRNA candidates (coding 91 mature miRNAs and 39 miRNA stars) were in silico predicted. Through comparison of expression profiles, we found 42 mature miRNAs and 23 miRNA stars expressed with …

The Evolutionary Dynamics Of Transcription Factors, Operators, And Their Target Genes Across Prokaryotes, Marc Del Grande

Theses and Dissertations (Comprehensive)

In prokaryotes, transcriptional regulation commonly involves a transcription factor (TF) binding to a particular conserved sequence of nucleotides (operator). Binding elicits a transcriptional response, either activation or repression. The evolution of gene regulation has been identified as a primary driver of species diversity, making it an important area of research. This work examined the dynamics of the interactions between TFs and operators, and TFs and their primary target genes in attempt to assess the rapid evolution of transcriptional regulatory networks (TRNs) across a diverse set of prokaryotes. Using software packages, operator sequences from Escherichia coli K12 were compared to every …

The Role Of Body Size On The Outcome Of Mating Interactions In Drosophila Melanogaster, Adam C. Lounsbury

Theses and Dissertations (Comprehensive)

Sexual selection is the process by which some individuals produce more and/or better quality offspring than others because they are better at securing mates. While this may be accomplished by defeating same-sex rivals (intrasexual selection), individuals of one sex (typically females) may also “decide” on the suitability of individuals of the opposite sex (typically males), resulting in intersexual selection on attractive traits. While a great deal of scrutiny has focused on how sexual selection influences male display traits, much less scrutiny has been directed toward the factors underlying female preference, including genetic variation, as well as the extent to which …

Causes And Consequences Of Female Mate Choice In Drosophila Melanogaster: A Hemiclonal Analysis, Hannah Me Tennant

Theses and Dissertations (Comprehensive)

One of Darwin’s greatest questions, the reason why females prefer elaborate sexually selected male traits and displays, was elucidated by the Fisherian coevolution of male traits and female preferences. While variation in male attractiveness and ornamentation has received much attention, there has been little attempt to evaluate the causes and consequences of intraspecific variation in components of female preference. Furthermore, demonstrating a genetic basis to female preference does not answer the question of how within-population genetic variation is maintained.

Understanding the sources of variation in potential mating interactions between males and females is important because this variation determines the strength …

Redefining Genomic Privacy: Trust And Empowerment, Yaniv Erlich, James B. Williams, David Glazer, Kenneth Yocum, Nita A. Farahany, Maynard Olson, Arvind Narayanan, Lincoln D. Stein, Jan A. Witkowski, Robert C. Kain

Faculty Scholarship

Fulfilling the promise of the genetic revolution requires the analysis of large datasets containing information from thousands to millions of participants. However, sharing human genomic data requires protecting subjects from potential harm. Current models rely on de-identification techniques in which privacy versus data utility becomes a zero-sum game. Instead, we propose the use of trust-enabling techniques to create a solution in which researchers and participants both win. To do so we introduce three principles that facilitate trust in genetic research and outline one possible framework built upon those principles. Our hope is that such trust-centric frameworks provide a sustainable solution …