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Psychological And Genetic Contributions To The Development Of Social Cognition In Children, Jacqueline Marie Klaver

Dissertations

This study examined the development of social cognition in children with and without autism spectrum disorder (ASD), as well as the influence of behavioral and molecular genetics on these higher-order cognitive abilities. Specifically, it was hypothesized that children with ASD would perform more poorly on all social cognitive tasks compared with typically developing peers. In addition, it was hypothesized that typically developing children who performed better on a simpler social cognitive task at ages 3 or 4 would perform better at follow-up (i.e., one time between the ages of 6-10). Lastly, it was hypothesized that children who had at least …

Venomic Characterization Of The Terebridae And Novel Terebrid Neuropeptides, Mary Elizabeth Wright

Dissertations, Theses, and Capstone Projects

Unravelling the complex mixture of neuropeptides produced by the terebrid venom duct holds the promise of discovering tomorrow's therapeutics. Cone snails have already demonstrated the potential found in the venom of these unusual marine organisms, through the commercial approval of drugs for pain and other indications. Terebrids, as the sister family to the cone snails, have been much less investigated, but have a species richness that makes them very attractive in the search for novel neuropeptides. The venomics research described in this work encompasses the first comprehensive characterization of the terebrid venom duct transcriptomes of two species, Cinguloterebra anilis and …

Proximal Aberrant Crypt Foci As A Surrogate Marker Of Colorectal Cancer Risk, David Alden Drew

Doctoral Dissertations

Colorectal cancer (CRC) prevention using screening colonoscopy relies upon the identification and removal of precancerous polyps or adenomas. Recently, an increase in CRC cases has been observed in individuals who have undergone screening colonoscopy before their next prescribed screening or surveillance interval, underscoring inherent limitations of routine colonoscopy as a complete preventive measure. Increasing evidence suggests that these “interval cancers” are most likely the product of missed or overlooked precancerous lesions. Specifically, interval cancers have a predilection for the proximal colon and their molecular features are associated with serrated polyps, lesions that due to their endoscopic morphology are difficult to …

Genes Mediating Cardiac Remodeling During Pregnancy And The Early Post-Partum-Period In Mice, Esam Aljrbi

Theses and Dissertations

The female heart undergoes adaptive remodeling during pregnancy to compensate for the increased hemodynamic load imposed by the developing fetus. However, unlike a similar adaptive process which occurs under pathological conditions (such as hypertension and valvular heart disease) the cardiac changes observed during hypertrophy associated with pregnancy are reversible. The goal of this study is to identify changes in gene expression associated with pregnancy-induced hypertrophy. We tested the hypothesis that pregnancy-induced physiological hypertrophy has a unique genetic signature, likely due to altered hormone levels, which supports and promotes reversible remodeling. Comparing the gene expression profile associated with physiological remodeling with …

Identification Of Genetic Determinants Of Aging Traits, James Edwin Hicks Jr

Open Access Dissertations

As the population in developed countries ages, the health problems associated with aging will become an increasingly important public health concern. While aging is a complex process that takes place over multiple physiological systems, many aspects of aging are under some amount of genetic control. Identification of the loci underpinning these traits could allow for targeting interventions for the most at-risk individuals in old age, improving both lifespan and quality of life. The Amish represent a uniquely appropriate population for the genetic analysis of aging traits. They live a homogenous lifestyle, with high levels of physical activity throughout their lives. …

Examining Selective Pressures Shaping Retrotransposon Distribution Within Genes, Sara Linker

Open Access Dissertations

Retrotransposons (RTs) comprise approximately half of the human genome and contribute to chromatin structure, regulatory motifs, and protein-coding sequences. Since RT insertions can disrupt functional genetic elements as well as introduce new sequence motifs to a region, they have the potential to effect the function of genes that harbour insertions as well as those nearby. A detailed characterization of RT density in genes could help inform predictions of the functional consequence of de novo as well as polymorphic insertions. The research presented here examines the selective pressures that modify the distribution of RTs within genes. It further examines these pressures …

Structural And Functional Studies Of Urea Amidolyase, Yi Lin

Dissertations (1934 -)

Urea amidolyase (UAL) is a key virulence factor that regulates the yeast to hyphae switch in the opportunistic pathogen, Candida albicans. UAL is a multi-domain enzyme with two enzyme activities: urea carboxylase (UC) and allophanate hydrolase (AH). UC is a biotin-dependent carboxylase that adds a carboxyl group to urea to make allophanate by the coordinated action of three domains. Allophanate is subsequently hydrolyzed into NH3 and CO2 in the AH domain. Studies on the structure and function of UAL may lead to treatments for systemic candidiasis and can serve to clarify the molecular basis for multi-functional swinging arm enzymes. In …

The Role Of Carotenoid Cleavage Dioxygenase 4 In Flower Color Of The Allopolyploid Brassica Napus, Leanne Denice Fogg

Master's Theses

Allopolyploids are formed by interspecific hybridization and whole genome duplication, with the resulting organism contains multiple distinct subgenomes in one nucleus. Subgenomic interactions result in massive genetic and epigenetic reconstruction, contributing to variable phenotypic traits noted in newly formed allopolyploids. To better understand these mechanisms in the context of molecular biology, evolution, and plant breeding, plant biologists study the model organism Brassica napus (farmed as canola or oilseed rape). With white-flowering and yellow-flowering progenitors, flower color phenotype of B. napus presents an opportunity to examine subgenomic interactions. CAROTENOID CLEAVAGE DIOXYGENASE 4 (CCD4) is known to play a major …

The Mystery Of Fut2: A Population Genetics Analysis Of The Secretor Gene Using The 1000 Genomes Project, Brienna Herold

Undergraduate University Honors Capstones

Because the ability to resist infectious disease has been a constant factor in the survival of humans over the past few millennia, disease resistance has played a crucial role in shaping the genes of the immune system. One of these genes, FUT2, is suggested to have evolved as an adaption reinforcing the immune system, although the specific function of its Lewis b and ABO blood group antigens in body fluids and secretions are still unclear. However, nonfunctional alleles are present in populations worldwide at frequencies higher than expected under neutral evolution. To elucidate the role of FUT2 in the immune …

Synthesizing Research And Education: Ecology And Genetics Of Independent Fern Gametophytes And Teaching Science Inquiry And Content Through Simulations, Aaron M. Duffy

All Graduate Theses and Dissertations, Spring 1920 to Summer 2023

The mission statements of Utah State University and the Department of Biology, as well as the requirements of funding agencies like the National Science Foundation encourage an integration of teaching and research. I have attempted to achieve that in my dissertation work by using tools I originally created to support and inform my biological research projects to teach science content and inquiry to middle school and undergraduate students.

Chapter 2 of this dissertation reports the results of surveys for Hymenophyllum wrightii, a fern with independent gametophyte populations in the Pacific Northwest, which improved our understanding of the range, distribution, …

Impact Of Faah Genotype And Marijuana Use On Brain Structure And Neuropsychological Performance In Emerging Adults, Skyler Gabriel Shollenbarger

Theses and Dissertations

Introduction: Chronic MJ use may be associated with higher cognitive ability impairments (see Lisdahl et al., 2013). Regions undergoing later maturation (Gogtay 2004), may be at increased risk for MJ-induced alterations. Endogenous cannabinoid signaling (ECS) is modulated by the function the enzyme Fatty Acid Amide Hydrolase (see Ho & Hilard, 2005), thus the gene encoding for this enzyme (FAAH) impacts ECS (Sipe et al., 2002). Here, we examine the impact of MJ use and FAAH genotype on PFC complexity and underlying frontal white matter (WM) integrity in young adults. Methods: Participants included 37 MJ users and 37 non-using young adults …

Availability Of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis, Andrea M. Lewis

Dissertations & Theses (Open Access)

Background: Mutations in the APC gene cause familial adenomatous polyposis (FAP), an autosomal dominant colorectal cancer predisposition associated with the development of hundreds to thousands of adenomatous colorectal polyps beginning in childhood or adolescence. Both malignant and non-malignant extracolonic manifestations are associated with APC gene mutations, including approximately 17% of individuals with various dental anomalies. The availability of dental anomaly information in the medical record remains to be evaluated.

Methods: Medical records were reviewed for documentation of dental anomalies. Dental questionnaires were mailed to 271 individuals with FAP at The University of Texas M. D. Anderson Cancer Center (UTMDACC) to …

Population Genetics And Microbial Communities Of The Gopher Tortoise (Gopherus Polyphemus), Daniel Lyle Gaillard

Dissertations

The gopher tortoise, Gopherus polyphemus, is an endangered species living in the southeastern United States. The recent and drastic decline in tortoise numbers has resulted in a multi-faceted approach to conserve this species. I used a population genetic approach to determine the population structure, genetic diversity and barriers to gene flow at a broad, regional and local scale. Tortoises are divided into five distinct genetic populations at the broad scale, the central populations have the highest levels of genetic diversity and the Tombigbee, Mobile, Apalachicola, Suwannee and St. John’s Rivers appear to be barriers to gene flow. At the regional …

Utilization Of Fish For Constitutional And Acquired Chromosomal Abnormalities For Diagnostic And Prognostic Purposes, Amy L. Shackelford

Graduate Theses, Dissertations, and Problem Reports

ABSTRACT Utilization of FISH for Constitutional and Acquired Chromosomal Abnormalities for Diagnostic and Prognostic Purposes Amy L. Shackelford Fluorescence in-situ hybridization (FISH) is a useful molecular cytogenetics technique for counting chromosomes and identifying specific chromosomal sequences of interest. FISH probe targets include centromeres, single loci, subtelomeres, and telomeres, using DNA or peptide nucleic acid (PNA) probes. FISH probes were used to determine chromosome number, copy loss or gain, and signal size in four studies involving acquired chromosomal changes in malignancy, mosaicism, and aneuploidy in pre- and postnatal constitutional abnormalities. In the first series of experiments, subtelomere probes for 5p and …

Identification And Expression Analysis Of Sugar Transporters In Microbotryum Violaceum., Jared Morris Andrews

College of Arts & Sciences Senior Honors Theses

No abstract provided.

Identification And Genetic Diversity Of Lake Sturgeon Larvae On Artificial Reefs In The Huron-Erie Corridor, Jamie Marie Marranca

Graduate Theses, Dissertations, and Problem Reports

There are 27 species of sturgeon worldwide and most are currently extinct, endangered or threatened. Lake sturgeon, Acipenser fulvescens, one of the oldest species on the planet, evolved about 136 million years ago, and have had little morphological change, and are endemic to the freshwater lakes and rivers created by receding glaciers of the Laurentian ice sheet. Lake sturgeon have seen immense habitat loss due to human development and industrialization has nearly decimated populations. Changes to water and habitat quality, along with overharvesting, have caused declines to nearly 1% of their original population size. The Huron-Erie Corridor (HEC), includes the …

Effects Of Culverts On Brook Trout Genetic Diversity, Darren M. Wood

Graduate Theses, Dissertations, and Problem Reports

Brook trout (Salvelinus fontinalis) are a species of concern within their native range due to a historical loss of habitat, overfishing, and stocking of non-native salmonids. Road culverts have been recognized as an additional impediment to population persistence as movement between diverse habitat types has been identified as an alternative life-history strategy to maximize spawning and growth. Brook trout were genetically analyzed using a suite of 13 microsatellite loci above 7 culverts with varying levels of passability classified through a physical protocol. While most sites were not found to have losses in genetic diversity, populations above culverts with a high …

Naturalized Offspring From An 85-Year-Old Chinese Chestnut (Castanea Mollissima) Planting: Stand Dynamics And Genetic Relationships, Amy Christel Miller

Open Access Theses

Chestnuts, members of the genus Castanea , family Fagaceae, are valuable worldwide, and all species have noteworthy ecological, economic, and cultural importance in their native ranges. Historically, American chestnut (Castanea dentata (Marshall) Borkh.) was an abundant tree species in eastern North America until its decimation in the early 20 th century by chestnut blight, caused by the fungus Cryphonectria parasitica . To regain the benefits of this prized species in North America, efforts are ongoing to produce and introduce blight-resistant hybrids of C. dentata and the blight-resistant Chinese chestnut ( C. mollissima Blume). It is important that the C. …

Development Of Genomic Resources And Identification Of Marker-Trait Associations In Strawberry, Lise L. Mahoney

Doctoral Dissertations

Crosses were performed and progeny populations were developed in diploid and octoploid strawberry (Fragaria) species for the purposes of genetic analysis and breeding. A high throughput genotyping platform - the Affymetrix IStraw90® Axiom® strawberry SNP array - was evaluated and employed for these purposes. Phenotyping was conducted with respect to several traits of interest, including flower color, flower and fruit pigment compositions, and verticillium wilt resistance, for the ultimate purpose of identifying marker-trait associations useful in breeding. In the ancestral diploid species Fragaria iinumae, an F2 mapping population was developed from a cross between two accessions previously collected in Hokkaido, …

A Rare View Of Coding Mutations And Plasma Lipid Levels, Aniruddh Pradip Patel

Yale Medicine Thesis Digital Library

A RARE VIEW OF CODING MUTATIONS AND PLASMA LIPID LEVELS. Aniruddh P. Patel, Sekar Kathiresan. Center for Human Genetics Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA and Program in Medical and Population Genetics, the Broad Institute of Harvard and MIT, Cambridge, MA (Sponsored by Richard P. Lifton, Department of Genetics, Yale University School of Medicine, New Haven, CT).

Plasma low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) are quantitative, heritable risk factors for coronary heart disease. Genome-wide association screens (GWAS) of common DNA sequence variants have identified many loci associated with plasma lipid levels. Targeted …

From The Mouths Of Mississippian: Determining Biological Affinity Between The Oliver Site (22-Co-503) And The Hollywood Site (22-Tu-500), Hanna Stewart

Electronic Theses and Dissertations

The Mississippian period in the American Southeast was a period of immense interaction between polities as a result of vast trade networks, regional mating networks which included spousal exchange, chiefdom collapse, and endemic warfare. This constant interaction is reflected not only in the cultural materials but also in the genetic composition of the inhabitants of this area. Despite constant interaction, cultural restrictions prevented polities from intermixing and coalescent groups under the same polity formed subgroups grounded in their own identity as a result unique histories (Harle 2010; Milner 2006). As a result, phenetic similarities and differences are not homogenized. In …

Identifying Functional Variation In Schizophrenia Gwas Loci By Pooled Sequencing, Erik Loken

Theses and Dissertations

Schizophrenia demonstrates high heritability in part accounted for by common simple nucleotide variants (SNV), rare copy number variants (CNV) and, most recently, rare SNVs Although heritability explained by rare SNVs and CNVs is small compared to that explained by common SNVs, rare SNVs in functional sequences may identify specific disease mechanisms. However, current exome methods do not capture a large proportion of potentially functional bases where rare variation may impact disease risk: as much as two-thirds of conserved sequences lie outside the exome in non-coding regions of cross-species evolutionary constraint. We reasoned that the candidate loci from the Psychiatric Genomics …

Linking Molecular, Electrical And Anatomical Properties Of Human Epileptic Brain, Shruti Bagla

Wayne State University Dissertations

Epilepsy is a common neurological disorder of recurrent unprovoked seizures. It affects almost 1% of the world population. Although there is a wide range of anti-epileptic drugs (AEDs) available, they only treat the seizure symptoms and do not cure the disease itself. The poor role of AEDs can be attributed to the lack of knowledge of exact mechanisms and networks that produce epileptic activities in the neocortex. At present, the best cure for epilepsy is surgical removal of electrically localized epileptic brain tissue. Surgically removed brain tissue presents an excellent opportunity to discover the molecular and cellular basis of human …

Pattern Specific Isotopic Labeling Of Phenylalanine And Incorporation Into Recombinant Protein For Macromolecular Complex Study, Mary Catherine Hames

Dissertations

Macromolecular complexes are at the forefront of structural biology. Despite technological advances, there remains a significant size barrier for study of these systems. Site specific labeling of ILV methyl residues has been used to study systems such as the proteasome, but other methods are still needed. Aromatic amino acids have many of the advantages of methyl containing residues and are desirable for site specific labeling. They are often found in the protein core and at important interaction interfaces. Aromatic side chains have positions with multiple magnetically equivalent 1H probes and distinct carbon chemical shifts. Side chain ring flipping results in …

The Role Of Igf-Ii In Memory Enhancement : Implications For Autism Spectrum Disorders, Amy S. Kohtz

Legacy Theses & Dissertations (2009 - 2024)

Cognitive and memory impairments significantly affect multiple domains in life and play major roles in disease. Identifying critical mechanisms and factors that mediate memory consolidation and enhancement may represent an important approach for increasing cognition in normal adults and preventing or treating cognitive impairments. The expression of the C/EBP- target gene insulin-like growth factor 2, (IGF-II) is required for memory consolidation; furthermore, IGF-II administration during memory consolidation produces memory enhancement, increased memory persistence and prevents forgetting. In this thesis, I investigated the therapeutic potential of IGF-II to promote memory consolidation when administered systemically. In addition, I investigated one particularly interesting …

The Role Of Landscape Variation In Shaping The Evolutionary Diversification Of Chimpanzees (Pan Troglodytes) In A Biodiversity Hotspot, Matthew William Mitchell

Legacy Theses & Dissertations (2009 - 2024)

In this dissertation, I combine population genetic and demographic history analyses of autosomal, mitochondrial and Y-chromosome genetic markers with spatially explicit modeling techniques to study the biogeographic mechanisms responsible for shaping patterns of genetic diversity among chimpanzees in Cameroon and eastern Nigeria. I also describe a new software tool, TESS Ad-Mixer, that I developed early on in this study to help visualize the geographic distribution of demes recovered from population cluster analyses.

Systematics And Species Delimitation In New Guinea Skink Species Complexes (Squamata: Scincidae), Eric Nikolaus Rittmeyer

LSU Doctoral Dissertations

Though among the most controversial topics in systematic and evolutionary biology, species are a fundamental unit in biology, and are utilized by and critical to a wide variety of studies in the life sciences. Despite this importance, little work has focused on developing and examining objective methods for species delimitation until recently. Further, New Guinea and the surrounding regions are among the most diverse and geologically complex regions globally, yet the region remains poorly explored biologically, and little work has examined the evolutionary history of the fauna in the region. To investigate the influence of factors such as sampling intensity, …

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 …

Home On The Range: A Consideration Of The Role Ranching Plays In Bison Conservation, Kristina Lyn Heitkamp

Graduate Student Theses, Dissertations, & Professional Papers

Since Europeans arrived to stay in North America, the number of wild bison fell from more than 30 million, to a low in 1884 of 325 wild bison – including just 25 in Yellowstone National Park. But in the late 20th century, bison ranching soared in popularity. In 1970, the number of bison being raised on ranches exceeded, for the first time, the number of bison in herds managed for conservation. Some people say this shows the power of ranching as a tool for conservation. Today, there are 500,000 bison in the United States. Of those, 480,000 are privately owned. …

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 …