Genetics and Genomics Commons^™

Developmental Functions Of Mir156-Regulated Squamosa Promoter Binding Protein-Like (Spl) Genes In Arabidopsis Thaliana, Mingli Xu, Tieqiang Hu, Jianfei Zhao, Mee-Yeon Park, Keith W. Earley, Gang Wu, Li Yang, R. Scott Poethig

Faculty Publications

Correct developmental timing is essential for plant fitness and reproductive success. Two important transitions in shoot development—the juvenile-to-adult vegetative transition and the vegetative-to-reproductive transition—are mediated by a group of genes targeted by miR156, SQUAMOSA PROMOTER BINDING PROTEIN (SBP) genes. To determine the developmental functions of these genes in Arabidopsis thaliana, we characterized their expression patterns, and their gain-of-function and loss-of-function phenotypes. Our results reveal that SBP-LIKE (SPL) genes in Arabidopsis can be divided into three functionally distinct groups: 1) SPL2, SPL9, SPL10, SPL11, SPL13 and SPL15 contribute to both the juvenile-to-adult vegetative transition …

Unaffected Women’S Decisions To Have Prophylactic Risk-Reducing Mastectomies, Stephanie N. Galloway

Theses and Dissertations

When a woman is at an increased risk of developing breast cancer due to a pathogenic mutation or a significant family history of the disease, she will be faced with choosing from among multiple management options, including risk-reducing mastectomy (RRM). The relative rate of RRM for both diagnosed and unaffected high-risk women has increased in recent years. Previous research has investigated the factors that influence women diagnosed with the disease to undergo RRM, but has not fully addressed how unaffected women make their decisions to choose RRM as an option when they are still healthy. This study was designed to …

Reflections On The Current State Of Healthcare Transition For Young Adult Women With Turner Syndrome: Strategies For Facilitating Autonomy And Self-Management, Molly Elizabeth Snyder

Theses and Dissertations

The transition to adult-centered healthcare is a critical period for emerging adults, especially those with special healthcare needs (SHCNs). Considering the ongoing medical monitoring necessary for women with Turner syndrome (TS), it is essential that the transition process be comprehensive and well-coordinated. The aims of this study were to invite young women with TS to reflect on their healthcare transition experiences, to explore participants’ perceived control of their medical management, and to identify ways in which genetic counselors can be involved in multidisciplinary healthcare teams. The hypotheses were that young women with TS are motivated to learn more about their …

Genetic Counseling For Alcohol Use Disorder: Assessment Of Need In Affected And At-Risk Populations, Fayth Michelle Kalb

Theses and Dissertations

Introduction: Alcohol use disorder (AUD) is highly heritable, yet there has been no investigation regarding the possible benefits of genetic counseling for AUD. This study assessed the beliefs individuals with and at risk for AUD have regarding recurrence risk and etiology of AUD, how the presence of the condition in themselves or their family history has affected their lifestyle decisions, and potential benefit from AUD genetic counseling. Methods: An online questionnaire was distributed through social media to support groups for AUD inviting adults 18 years and older with a personal or family history of AUD. Results: Of the 122 individuals …

Re-Contacting Cancer Genetic Counseling Patients: Expectations Of Patients And Physicians, Zoe Elizabeth Siegel

Theses and Dissertations

The landscape of cancer genetic counseling and testing is rapidly evolving. Genetic testing technology is improving, management guidelines are evolving, and genetic testing options are expanding. These frequent updates to the components of cancer genetics have increased the complexity of managing patient care over time. In particular, this raises questions on the duty to re-contact patients as new information becomes available. This study explored healthcare providers’ duty to re-contact through the interests and expectations of patients, including which circumstances warrant re-contacting, which healthcare provider is responsible for re-contacting the patient, and the preferred method of re-contacting. Physicians’ opinions on whether …

The Undiagnosed Patient And The Diagnostic Odyssey: Current Genetic Counseling Practices And Perspectives, Amelia Cordell Wardyn

Theses and Dissertations

Patients seen in genetics clinics often endure a diagnostic odyssey in their search for answers for their medical symptoms. This time is not only challenging for patients and their families, but also for the genetic counselors who are trying to help the patients. Previous research has shown that parents of children with undiagnosed medical disorders have specific goals and reasons for wanting to find a diagnosis, and there are many difficulties faced by these parents. Genetic counselors often serve as a prominent figure during the diagnostic odyssey, but little known research has assessed the current practices of and impact that …

Parents’ Understanding Of Sensory Processing In Their Child With Autism Spectrum Disorder, Katelynn M. Anderson

Theses and Dissertations

Purpose: The purpose of this study was to assess the need and desire of parents of children with Autism Spectrum Disorder (ASD) to receive sensory processing disorder (SPD) education. We hoped to identify misconceptions of parents about sensory processing and examined the utility of providing information on SPDs to these parents within the genetic counseling session. Methods: Invitations to participate were sent to support groups in the Southeast United States. A survey tool was used to obtain demographic information. A short presentation was given to clarify the definition of sensory processing, give examples of signs and symptoms of SPDs, and …

The Informational And Emotional Support Needs Of Grandparents Of Children With Pompe Disease, Natasha Lousie Rudy

Theses and Dissertations

The complex roles and experiences of grandparents of children with various diagnoses have been described, but previous studies have not investigated the roles and experiences of grandparents of children with treatable, Mendelian conditions such as Pompe disease. The availability of treatment and heritable nature of Pompe introduce the possibility for unique grandparent roles, experiences and needs. This is a particularly timely investigation given the advent of newborn screening for Pompe. This study aimed to characterize grandparents’ roles and involvement, identify grandparents’ information and emotional support needs, and explore the psychosocial impact felt by grandparents of children with Pompe. An online …

Reactive Oxygen Species-Mediated Neurodegeneration Is Independent Of The Ryanodine Receptor In Caenorhabditis Elegans, Lyndsay E.A. Young, Daniel C. Williams

Journal of the South Carolina Academy of Science

Despite the significant impacts on human health caused by neurodegeneration, our understanding of the degeneration process is incomplete. The nematode Caenorhabditis elegans is emerging as a genetic model organism well suited for identification of conserved cellular mechanisms and molecular pathways of neurodegeneration. Studies in the worm have identified factors that contribute to neurodegeneration, including excitotoxicity and stress due to reactive oxygen species (ROS). Disruption of the gene unc-68, which encodes the ryanodine receptor, abolishes excitotoxic cell death, indicating a role for calcium (Ca²⁺) signaling in neurodegeneration. We tested the requirement for unc-68 in ROS-mediated neurodegeneration using the …

Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde

Theses and Dissertations

Very little information is available regarding the experience and needs of families who create an adoption plan for their child with disability. The purpose of this study was to learn more about the experiences of birthparents who created an adoption plan after the diagnosis of Down syndrome so as to understand their needs during the process. Birthparents were invited to participate in the study through National Down Syndrome Adoption Network (NDSAN) by membership emails. Information about the study was made available on the organization’s website and social media pages. Potential participants also learned about the study from one of the …

Genome Sequence And Phenotypic Characterization Of Caulobacter Segnis, Sagar Patel

Senior Theses

Caulobacter segnis is a unique species of Caulobacter in that it is slow growing, found in soil samples, and has other phenotypic differences from the freshwater Caulobacter that it is most closely related to. Initially deemed Mycoplana segnis, it was reclassified after a 16s rRNA analysis and found to be most closely related to the Caulobacter NA1000 branch. Because the annotated sequence available in GenBank contained a large number of pseudogenes (126), we compared the original sequencing data to the GenBank sequence and determined that many of the pseudogenes were due to sequence errors in the Genbank sequence. Consequently, …

Multiple Roles For Hoxa3 In Regulating Thymus And Parathyroid Differentiation And Morphogenesis In Mouse, Jena L. Chojnowski, Kyoko Masuda, Heidi A. Trau, Kirk Thomas, Mario Capeechi, Nancy R. Manley

Natural Sciences Faculty Publications

Hoxa3 was the first Hox gene to be mutated by gene targeting in mice and is required for the development of multiple endoderm and neural crest cell (NCC)-derived structures in the pharyngeal region. Previous studies have shown that the Hoxa3 null mutant lacks third pharyngeal pouch derivatives, the thymus and parathyroids by E18.5, and organ-specific markers are absent or downregulated during initial organogenesis. Our current analysis of the Hoxa3 null mutant shows that organ-specific domains did undergo initial patterning, but the location and timing of key regional markers within the pouch, including Tbx1, Bmp4 and Fgf8, were altered. …

Parents' Dreams For Their Young Adults With Down Syndrome: What Resources Are Needed To Achieve Them?, Julianna Elise Hudnall

Theses and Dissertations

This study sought to identify the goals parents have for their young adult sons and daughters with Down syndrome, the factors that help to achieve those goals, and parents' perceived barriers to successful attainment of those objectives. While many supports are readily available to youths with Down syndrome in primary and secondary school, many of these supports disappear as these individuals transition into adulthood. When combined with the inherent challenges of emerging adulthood, significant gaps in resources become evident for this population. In order to identify areas in need of improvement, this study surveyed parents of post- and peri-transitional young …

Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez

Theses and Dissertations

Intellectual disability (ID) refers to reduced cognitive function, apparent before the age of 18, that negatively affects a person's learning and adaptive capacity. Approximately 1-3% of the population is affected with ID, males more than females, and most in the mild-to-moderate range. ID creates financial, logistical and psychosocial challenges for affected persons and their families and caregivers. It is estimated that up to 50% of ID has a genetic cause. Molecular genetic diagnosis may help in obtaining services and has important implications for family members, but can be elusive. Genes causing ID are known to be over-represented on the X …

The Use Of Social Media And The Impact Of Support On The Well-Being Of Adult Cystic Fibrosis Patients, Margaret Anne Faust

Theses and Dissertations

Cystic fibrosis (CF) is the most common, life-limiting autosomal recessive condition disorder of Caucasians. CF is a chronic condition that requires daily treatment of symptoms, the stress of which can have mental health consequences. Due to the potential for cross contamination of bacterial infections, individuals with CF are discouraged from meeting in person and must find other venues to receive support. Social media provides the opportunity for individuals with CF to communicate and provide support. We hypothesized a positive correlation between the patients' health-related quality of life and the amount of time spent on CF-related social media sites. We expected …

Parental Satisfaction And Teacher Perspectives On Inclusive Education Of Students With Asperger Syndrome: An Educational Tool, Hannah Warren

Theses and Dissertations

Purpose: This study aimed to evaluate parental satisfaction and anxiety regarding the high school educational experiences of their child with a previous diagnosis of Asperger syndrome (AS), as well as educators' understanding of the diagnosis and what information they deemed important to know about the student. The goal of this study was to develop an educational tool that would aid in initiating communication between parents of a student with AS, or with a new diagnosis of high-functioning autism (HFA), and their teachers. This would be an additional resource of use to pediatric genetic counselors that frequently see families regarding a …

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 …

Sugar Promotes Vegetative Phase Change In Arabidopsis Thaliana By Repressing The Expression Of Mir156a And Mir156c, Li Yang, Mingli Xu, Yeonjong Koo, Jia He, R. Scott Poethig

Faculty Publications

Nutrients shape the growth, maturation, and aging of plants and animals. In plants, the juvenile to adult transition (vegetative phase change) is initiated by a decrease in miR156. In Arabidopsis, we found that exogenous sugar decreased the abundance of miR156, whereas reduced photosynthesis increased the level of this miRNA. This effect was correlated with a change in the timing of vegetative phase change, and was primarily attributable to a change in the expression of two genes, MIR156A and MIR156C, which were found to play dominant roles in this transition. The glucose-induced repression of miR156 was dependent on the …

Parsimony And Model-Based Analyses Of Indels In Avian Nuclear Genes Reveal Congruent And Incongruent Phylogenetic Signals, Tamaki Yuri, Rebecca T. Kimball, John Harshman, Rauri C.K. Bowie, Michael J. Braun, Jena L. Chojnowski, Kin-Lan Han, Shannon J. Hackett, Christopher J. Huddleston, William S. Moore, Sushma Reddy, Frederick H. Sheldon, David W. Steadman, Christopher C. Witt, Edward L. Braun

Natural Sciences Faculty Publications

Insertion/deletion (indel) mutations, which are represented by gaps in multiple sequence alignments, have been used to examine phylogenetic hypotheses for some time. However, most analyses combine gap data with the nucleotide sequences in which they are embedded, probably because most phylogenetic datasets include few gap characters. Here, we report analyses of 12,030 gap characters from an alignment of avian nuclear genes using maximum parsimony (MP) and a simple maximum likelihood (ML) framework. Both trees were similar, and they exhibited almost all of the strongly supported relationships in the nucleotide tree, although neither gap tree supported many relationships that have proven …

Prenatal Decision-Making Process Of Patients In Three Cities In South Carolina, Kimberly Marie Hamann

Theses and Dissertations

Purpose: Noninvasive prenatal testing (NIPT) has changed the landscape of prenatal genetic evaluation. This novel test can be performed as early as 10 weeks gestation without risk of pregnancy complication and has evoked questions about its applicability, appropriate use, and patient response. The purpose of this study was to evaluate patient decision-making processes about prenatal testing options as NIPT is integrated into the clinical realm. Method: Prenatal patients who were offered NIPT during genetic counseling (N = 105) in three cities in South Carolina completed a survey to address the goals of this study. Results: The top five factors most …

Unique Perspectives And Struggles Of Parents Rearing Children With Phenylketonuria With Unaffected Siblings, Cassandra Nicole Hollinger

Theses and Dissertations

Phenylketonuria (PKU) is an autosomal metabolic condition that is screened for via newborn screening. Individuals who are identified as having PKU require a protein-restricted diet to protect against neurological damage. Many parents who learn their child has PKU may already have children who are not affected, or may have children later who are not affected. This creates a unique situation in which parents are rearing children that require a strict protein-restricted diet with children who do not. Parents who are currently rearing children with and without PKU were surveyed to learn what unique perspectives and struggles they face, especially regarding …

A Qualitative Study On How Prenatal Genetic Counselors Prioritize Cultural Issues When Counseling Patients, Darcy Katherine Berry

Theses and Dissertations

The genetic counseling community has long recognized that the successful outcome of a session with a patient whose cultural background differs from the genetic counselor's is best achieved through recognition of the cultural differences and implementation of specific skills to overcome cultural barriers. Although research has examined the need and effects of cultural competency in genetic counseling, no prior study has evaluated how genetic counselors perceive the importance of addressing cultural issues in a genetic counseling session. Prenatal genetic counselors were recruited by emailing all NSGC members. For this study, sixteen prenatal genetic counselors were interviewed and asked to prioritize …

Use Of Social Media As A Support Network In Families With A Child Diagnosed With Trisomy 13, 18, Or 21, Ginger Elizabeth Edwardsen

Theses and Dissertations

Social media is a web based technology that allows individuals to communicate with other individuals, organizations, and communities about common interests and experiences. Recently, social media use has expanded into the healthcare field and many individuals are using social media to connect with others in similar situations and find support. Family members of children or pregnancies with trisomy 13, 18, or 21 were invited to participate in an online survey that explored the use of social media as a support network including their purposes for using social media as a support network, how often the use social media, and what …

Examining The Differences In Rapport Between Male And Female Cancer Genetic Counselors And Female Clients, John Abernethy

Theses and Dissertations

Genetic counseling is a field in which client-counselor rapport plays a critical role in client satisfaction with the genetic counseling process. One factor that may impact this rapport is gender of the genetic counselor. Previous studies in the field of psychological counseling suggest that gender is not a significant moderator of this rapport. To the best of our knowledge, no study has been published in the field of genetic counseling examining the impact that the gender of the genetic counselor has on client-counselor rapport. To study this effect, an amended version of Horvath & Greenberg's (1989) Working Alliance Inventory tool …

Working With Patients At Risk For Hereditary Degenerative Brain Disorders, Stephen John White

Theses and Dissertations

Hereditary degenerative brain disorders (HDBDs) are a unique class of genetic conditions that result in progressive loss of function within the nervous system, many of which present during adulthood. Given this, the diagnosis of a HDBD can be daunting for both the patient and the genetic counselor assisting in medical care. The purpose of this study was to find themes among genetic counselors who see this patient population and help provide a framework to counselors entering this field by recognizing verified methods of HDBD counseling. Sixteen genetic counselors who routinely see patients at-risk for HDBDs were interviewed concerning how they …

An Unbiased Approach To Identify Genes Involved In Development In A Turtle With Temperature-Dependent Sex Determination, Jena L. Chojnowski, Edward L. Braun

Natural Sciences Faculty Publications

Many reptiles exhibit temperature-dependent sex determination (TSD). The initial cue in TSD is incubation temperature, unlike genotypic sex determination (GSD) where it is determined by the presence of specific alleles (or genetic loci). We used patterns of gene expression to identify candidates for genes with a role in TSD and other developmental processes without making a priori assumptions about the identity of these genes (ortholog-based approach). We identified genes with sexually dimorphic mRNA accumulation during the temperature sensitive period of development in the Red-eared slider turtle (Trachemys scripta), a turtle with TSD. Genes with differential mRNA accumulation in response to …

Density Based Pruning For Identification Of Differentially Expressed Genes From Microarray Data, Jianjun Hu, J. Xu

Faculty Publications

Motivation

Identification of differentially expressed genes from microarray datasets is one of the most important analyses for microarray data mining. Popular algorithms such as statistical t-test rank genes based on a single statistics. The false positive rate of these methods can be improved by considering other features of differentially expressed genes.

Results

We proposed a pattern recognition strategy for identifying differentially expressed genes. Genes are mapped to a two dimension feature space composed of average difference of gene expression and average expression levels. A density based pruning algorithm (DB Pruning) is developed to screen out potential differentially expressed genes usually …