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Some of the material in is restricted to members of the community. By logging in, you may be able to gain additional access to certain collections or items. If you have questions about access or logging in, please use the form on the Contact Page.
Three troponin T (TnT) mutants that cause hypertrophic, restrictive, and dilated cardiomyopathy (I79N, ΔE96, and ΔK210, respectively), were examined using the thin-filament extraction/reconstitution technique. Effects of Ca(2+), ATP, ...
Chromatin structure plays a critical role in the regulation of the human genome. An understanding of the role of chromatin structure and its relationship to gene regulation is critical to developing new strategies to prevent and treat...
One of the central goals of evolutionary biology is to understand the evolutionary relationships among organisms by constructing phylogenetic estimates, commonly known as evolutionary trees. The accuracy of phylogenetic estimates can be...
The primary goal of this project was to produce a molecular phylogeny for the sub-family of goby fish Oxudercinae, known as mudskippers. Molecular study of this group, combined with morphological data, could help develop an analogous...
Plants are often subjected to extreme environmental conditions and must adapt rapidly. The phytohormone abscisic acid (ABA) accumulates under abiotic stress conditions, signaling transcriptional changes that trigger physiological...
Self-sustaining oscillators regulate diverse aspects of physiology in mammals such as insulin secretion, cell cycle regulation, and circadian rhythmicity. The circadian clock is based upon several interacting feedback loops, which affect...
The study of adaptive molecular evolution in natural populations has been severely limited by the difficulty of linking genetic variation to phenotypic variation to fitness effects. Most studies connecting genotype, phenotype, and...
Mating incurs costs to lifespan across species. Given that mating is a necessity for survival of most species, but yet has health costs, a method of modulating reproductive strategies under various environmental conditions to give...
CONTEXT: Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. OBJECTIVE: To determine whether the association between rs16969968 and smoking...
From Shelf to Shelf: Assessing Historical and Contemporary Genetic Differentiation and Connectivity across the Gulf of Mexico in Gag, Mycteroperca microlepis
Describing patterns of connectivity among populations of species with widespread distributions is particularly important in understanding the ecology and evolution of marine species. In this study, we examined patterns of population...
Over the past decade, the technologies used to obtain sequencing data from biological tissues have significantly improved. This has resulted in a marked increase in the ability of biological researchers to collect unprecedented...
D4Z4 is a subtelomeric macrosatellite repeat on chromosome 4q that codes for DUX4, a gene that is causal to the muscle wasting disease Facioscapulohumeral muscular dystrophy (FSHD). DUX4 expression is influenced by a number of genetic...
The process of adaptive evolution is complex, determined in part by the set of beneficial mutations available to adapting populations, the distribution of their effects, and the extents to which pleiotropy and epistasis impact the...
Mutations in TNNT2, encoding cardiac troponin T, commonly shows early onset, aggressive dilated cardiomyopathy (DCM). This observation may influence the decision of whether to undertake clinical genetic testing for TNNT2 in later onset...
Because cancer is such a prevalent problem in modern society, efforts are constantly being made to learn about the mechanisms that drive it, and for that Drosophila melanogaster has proved a perfect genetic model, with many genes and...
There is growing evidence that personality traits are affected by many genes, all of which have very small effects. As an alternative to the largely unsuccessful search for individual polymorphisms associated with personality traits, the...
Comparing patterns of spatial genetic structure across co-distributed species is critical to making inferences about the factors influencing population divergence, persistence, and change over time. The fields of phylogenetics and...
The cis-regulatory elements encoded by the genome and the epigenetic regulation that influences their function are necessary for defining organismal phenotype. However, a gap exists in our understanding of the role that epigenetic...
Brain-derived neurotrophic factor (BDNF) regulates synaptic plasticity and neurotransmission, and has been linked to neuroticism, a major risk factor for psychiatric disorders. A recent genome-wide association (GWA) scan, however, found...
The polymorphism in the serotonin transporter gene promoter region (5-HTTLPR) is by far the most studied variant hypothesized to influence Neuroticism-related personality traits. The results of previous studies have been mixed and appear...
In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between...
Tissue integrity and homeostasis are accomplished through strict spatial and temporal regulation of cell growth and proliferation during development. A derailment of such balance may lead to tumorigenesis. Various signaling pathways have...
A Tale of Two Drosophila Centrosome Proteins: The Regulation of Cilium Functions by Rootletin, and the Conversion of Sperm Mitochondria into Microtubule-Organizing Centers by CnnT
Using the fruit fly Drosophila melanogaster as a model organism, this dissertation dissects molecular and biological functions of three proteins: Rootletin (Root), testis-specific Centrosomin (CnnT) and Spermitin (Sprn). Centrosomes are...
The functionality of a protein depends on its correct folding, but newly synthesized proteins are susceptible to aberrant folding. Misfolded proteins are aggregation prone and protein aggregation are associated with many human diseases, ...
The interaction between various signaling pathways and their spatial and temporal regulation during growth and development remains largely unknown. The purpose of this thesis is to investigate the role of signaling pathways involved in...
BACKGROUND: A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life...
The structure and function of the eye is conserved across vertebrates. Mutagenesis screens of zebrafish have led to the discovery of many genes essential for retinal development and function. In one such screen, a recessive allele on the...
The mobile and self-perpetuating nature of transposons allows them to impact organisms in a polarized manner: as an evolutionary force in increasing genome size and as molecular parasites whose activities may lead to potentially...
Hypertrophic Cardiomyopathy (HCM) is a common primary cardiac disorder defined by a hypertrophied left ventricle, is one of the main causes of sudden death in young athletes, and has been associated with mutations in most sarcomeric...
Distribution of orientations of myosin was examined in ex-vivo myofibrils from hearts of transgenic (Tg) mice expressing Familial Hypertrophic Cardiomyopathy (FHC) troponin T (TnT) mutations I79N, F110I and R278C. Humans are heterozygous...
DNA is replicated in a defined temporal order termed the RT program. Ordered DNA replication is conserved in eukaryotes, yet its biological significance remains enigmatic. 3D genome organization as assayed by Hi-C has revealed that RT is...
During the age of non-avian dinosaurs, ancestors of present-day mammals were likely small insectivores, relegated to nocturnal and subterranean niches. This nocturnal "bottle-neck" is postulated as a driving force of numerous...
Smoking is a leading global cause of disease and mortality. We established the Oxford-GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP association with smoking-related behavioral traits. Our final data set...
A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101, 069 individuals and a replication sample of 25, 490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide...
The field of genomic engineering and manipulation has made great strides in recent years with the development of genome-altering techniques to alleviate disease by flexing control on an epigenetic scale. Facioscapulohumeral muscular...
Personality can be thought of as a set of characteristics that influence people's thoughts, feelings and behavior across a variety of settings. Variation in personality is predictive of many outcomes in life, including mental health....
Cardiac injury induces myocardial expression of the thyroid hormone inactivating type 3 deiodinase (D3), which in turn dampens local thyroid hormone signaling. Here, we show that the D3 gene (Dio3) is a tissue-specific imprinted gene in...
Narrative writing samples were collected and analyzed for a total sample size of 826 students (413 twin pairs; 159 monozygotic and 524 dizygotic pairs) from the Florida Twin Project on Behavior and Environment (FTP-BE) database who...
The precise regulation of cellular and hormonal signaling pathways is required for proper development in metazoan organisms. The Drosophila imaginal wing disc is the ideal model system for the study of cellular signaling regulating...
The relationship between major depressive disorder (MDD) and bipolar disorder (BD) remains controversial. Previous research has reported differences and similarities in risk factors for MDD and BD, such as predisposing personality traits...
The Pine Barrens treefrog (Hyla andersonii) is restricted to three isolated (disjunct) regions in the eastern United States: New Jersey, North and South Carolina, and the Florida panhandle and southern Alabama. It is a seepage bog...
The human cardiac troponin I (hcTnI) mutation R145W has been associated with restrictive cardiomyopathy. In this study, simultaneous measurements of ATPase activity and force in skinned papillary fibers from hcTnI R145W transgenic mice ...
Human longevity and personality traits are both heritable and are consistently linked at the phenotypic level. We test the hypothesis that candidate genes influencing longevity in lower organisms are associated with variance in the five...
The tendency to seek stimulating activities and intense sensations define excitement-seeking, a personality trait akin to some aspects of sensation-seeking. This trait is a central feature of extraversion and is a component of the...
BACKGROUND: Independent of temporal circumstances, some individuals have greater susceptibility to depressive affects, such as feelings of guilt, sadness, hopelessness, and loneliness. Identifying the genetic variants that contribute to...
Brain-derived neurotrophic factor (BDNF) regulates synaptic plasticity and neurogenesis, and BDNF plasma and serum levels have been associated with depression, Alzheimer's disease, and other psychiatric and neurodegenerative disorders....
The spindle pole body (SPB) is the functional equivalent of the mammalian centrosome in budding yeast Saccharomyces cerevisiae and is important for chromosome segregation and cell division. Paralleling how chromosome duplication and...
Some of the material in is restricted to members of the community. By logging in, you may be able to gain additional access to certain collections or items. If you have questions about access or logging in, please use the form on the Contact Page.
