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Individual Differences In Age And Testosterone Are Uniquely Associated With Neural Oscillatory Activity Serving Verbal Working Memory In Children And Adolescents, Abraham D. Killanin May 2024

Individual Differences In Age And Testosterone Are Uniquely Associated With Neural Oscillatory Activity Serving Verbal Working Memory In Children And Adolescents, Abraham D. Killanin

Theses & Dissertations

During the sensitive period of adolescence, the human brain undergoes dynamic changes in structure and function resulting in vast executive function gains. Verbal working memory (VWM) is one executive function that serves as a foundation to language acquisition, reading, and learning. Many have examined the development of VWM in youth, but few have probed age-related changes in the underlying neural oscillatory dynamics, and none have examined testosterone-related changes. We recorded magnetoencephalography during a modified Sternberg VWM task in 82 youth participants aged 6 – 14 years old and collected salivary testosterone samples. Significant oscillatory responses were identified and imaged using …


Sufu In Shh Signalling Mediated Myogenesis, Suleyman Abdullah Dec 2023

Sufu In Shh Signalling Mediated Myogenesis, Suleyman Abdullah

Electronic Thesis and Dissertation Repository

Myogenesis is defined as the formation of skeletal muscle tissue during embryonic development and involves a multitude of cellular signalling pathways. Among these include the Sonic hedgehog (Shh) signalling pathway which must be deactivated for differentiation into muscle cells to occur. However, less is known regarding the pathways operation during cell differentiation and whether Suppressor of Fused (SUFU), the protein inhibitor of Shh signalling, plays a role. To address this, mouse C2C12 myoblast cells were utilized as a model and differentiated into muscle cells to identify the presence of SUFU during this time. Experiments in qRT-PCR show a decrease in …


Age Impacts Perineuronal Net Density In The Somatosensory Genital Cortex Independently Of Gonadal Steroid Hormones, Ian D. Warren Dec 2023

Age Impacts Perineuronal Net Density In The Somatosensory Genital Cortex Independently Of Gonadal Steroid Hormones, Ian D. Warren

Masters Theses

A hallmark of pubertal development is the rise in gonadal hormone secretions and the subsequent onset of sexual behavior. The size of the somatosensory genital cortex increases in response to both this rise in gonadal steroid hormones and sexual experience. However, whether specific markers of brain plasticity are similarly impacted by gonadal hormones during puberty is not known. Perineuronal nets (PNNs) are specialized extracellular matrix structures that unsheathe neurons as they mature, and their maturation coincides with the closure of sensitive periods across several sensory systems. PNNs in somatosensory cortex, as an example, respond to experience-dependent plasticity. Although experience-depended changes …


Investigating Task-Free Functional Connectivity Patterns In Newborns Using Functional Near-Infrared Spectroscopy, Homa Vahidi Nov 2023

Investigating Task-Free Functional Connectivity Patterns In Newborns Using Functional Near-Infrared Spectroscopy, Homa Vahidi

Electronic Thesis and Dissertation Repository

Robust functional connectivity in sensorimotor resting-state network (RSN) has been linked to positive neurodevelopmental outcomes in neonates. In the current study, we aimed to map the developmental trajectory of sensorimotor RSN in awake neonates using functional near-infrared spectroscopy (fNIRS). We acquired fNIRS resting-state data from 41 healthy newborns (17 females, gestational age range=36+0 to 42+1 weeks) within the first 48 hours after birth. At the group level, we observed robust positive connectivity in numerous channel-pairs across the sensorimotor network, especially in the left hemisphere. Next, we examined the relationship between functional connectivity, gestational age and postnatal age, while controlling for …


The Impacts Of Embryo Development And Asynchronous Hatching On Morphology, Growth, And Development Of Larval Burbot (Lota Lota)., Andrew J. Shapiro Nov 2023

The Impacts Of Embryo Development And Asynchronous Hatching On Morphology, Growth, And Development Of Larval Burbot (Lota Lota)., Andrew J. Shapiro

All NMU Master's Theses

Burbot (Lota lota) are native fish in Lake Superior and typically spawn during the winter under the ice or by migrating up rivers. The early life history of larval burbot, where they dispurse, how fast they develop, and what their survival rates have not been extensively studied. Asynchronous hatching is a strategy used by other cod species as a bet-hedging strategy to ensure that some larvae are hatched in more advantageous conditions in a varying environment. Asynchronous hatching has been documented in burbot, but the extent of the period and the impacts that asynchrony has on the development of …


Understanding The Environmental And Genetic Influence On Fluctuating Asymmetry And Developmental Instability In Primates, Ashly N. Romero Aug 2023

Understanding The Environmental And Genetic Influence On Fluctuating Asymmetry And Developmental Instability In Primates, Ashly N. Romero

Graduate Theses and Dissertations

This dissertation explored the impact of environmental factors on the development and perpetuation of fluctuating asymmetry (FA) and sought to understand the role evolution may play in the FA exhibited in two primate populations: the free-ranging Cayo Santiago rhesus macaques (Macaca mulatta) and the Southwest National Primate Research Center olive baboons (Papio hamadryas anubis). Demographic, ontogenetic, secular, external, and genetic factors were examined. Specifically, this dissertation investigated FA over all ontogenetic stages, across decades, between sexes, in association with ecological catastrophes, and with tooth pathology to try and tease apart factors that may influence FA and developmental instability. This dissertation …


Southern Sea Otter (Enhydra Lutris Nereis) Fur Morphology, Thermal Function, And Buoyancy Across Ontogeny, Kate Riordan Jun 2023

Southern Sea Otter (Enhydra Lutris Nereis) Fur Morphology, Thermal Function, And Buoyancy Across Ontogeny, Kate Riordan

Master's Theses

Sea otters (Enhydra lutris) have the densest fur of any animal, and the hairs function to trap a layer of air that is used for insulation. When a sea otter is born, it has a natal pelage (baby fur), and sea otters eventually molt that fur and replace it with a pelt resembling the adult fur. Sea otter fur is composed of 3 types of hairs: underhairs, intermediate hairs, and guard hairs. Sea otters are more susceptible to the negative effects of oiling from oil spills compared to other marine mammal species because they solely rely on fur …


Genetic Regulation Of Müllerian Duct Regression, Malcolm Moses May 2023

Genetic Regulation Of Müllerian Duct Regression, Malcolm Moses

Dissertations & Theses (Open Access)

Mammals, including humans, develop progenitor tissues for both male and female reproductive tract organs before they fully differentiate into a male or female tract. The progenitor tissue for the male reproductive tract is known as the Wolffian duct (WD), and the progenitor tissue for the female reproductive tract is the Müllerian duct (MD). The WD further differentiates into the vas deferens, epididymis, and seminal vesicle, while the MD differentiates into the oviduct, uterus and upper vagina. An essential step in sex differentiation for males is the regression of the MD. This regression initiates with anti-Müllerian hormone (Amh) transcription …


The Genomics Of Autism-Related Genes Il1rapl1 And Il1rapl2: Insights Into Their Cortical Distribution, Cell-Type Specificity, And Developmental Trajectories, Jacob Weaver Apr 2023

The Genomics Of Autism-Related Genes Il1rapl1 And Il1rapl2: Insights Into Their Cortical Distribution, Cell-Type Specificity, And Developmental Trajectories, Jacob Weaver

MUSC Theses and Dissertations

Neuropsychiatric disorders have a significant impact on modern society. These disorders affect a large percentage of the population: schizophrenia has a world-wide prevalence of 1% and autism spectrum disorders (ASD) affects 1 in 59 school-aged children in the US. There is substantial evidence that most neuropsychiatric disorders have a genetic component. Thus, with the advent of high throughput sequencing much effort has gone into identifying genetic variants associated with these disorders. The emerging picture from these studies is a complex one where hundreds of genes with small effects interact with a varied landscape of common variants to result in disease. …


Effects Of Development On Hpa Function Following Pubertal Stress, Brittany D. Elliott Jan 2023

Effects Of Development On Hpa Function Following Pubertal Stress, Brittany D. Elliott

Graduate Theses, Dissertations, and Problem Reports

For women, two of the greatest risk factors for affective disorders are adversity experienced during puberty and later becoming pregnant. We have created a translationally relevant mouse model where we address these complex risk factors. Previously, we discovered that pregnant mice (dams) that experienced chronic variable stress (CVS) during puberty display a blunted hypothalamic-pituitary-adrenal (HPA) response when exposed to an acute stressor. Interestingly, this alteration only first becomes apparent during pregnancy, which is a sensitive period for these effects due to normative neuroendocrine changes. Further investigation of the mechanisms underlying this dysfunction revealed altered gene expression in the paraventricular nucleus …


The Impact Of Polychlorinated Biphenyls On The Development Of Zebrafish (Danio Rerio), Megan Moma Jan 2023

The Impact Of Polychlorinated Biphenyls On The Development Of Zebrafish (Danio Rerio), Megan Moma

WWU Graduate School Collection

Polychlorinated biphenyls (PCBs) are a group of 209 highly stable molecules that were used extensively in industry. Although their commercial use ceased in 1979, they are still present in many aquatic ecosystems due to improper disposal, oceanic currents, atmospheric deposition, and hydrophobic nature. PCBs pose a significant and ongoing threat to the development and sustainability of aquatic organisms. Our hypothesis is that PCB concentration will significantly affect development. Zebrafish (Danio rerio) were exposed to a standard PCB mixture (Aroclor 1254) for the first 5 days post fertilization, as there is a gap in knowledge during this important developmental …


Addition Of Apple Pomace To Feeding Substrate On Growth, Development, And Survival Rates Of Yellow Mealworms (Tenebrio Molitor) And Characterization Of Their Proteins Extracted By A Ph-Shift Process, Michelle Duvall Jan 2023

Addition Of Apple Pomace To Feeding Substrate On Growth, Development, And Survival Rates Of Yellow Mealworms (Tenebrio Molitor) And Characterization Of Their Proteins Extracted By A Ph-Shift Process, Michelle Duvall

Graduate Theses, Dissertations, and Problem Reports

The weight changes, survival/mortality rates, and proximate compositions of Tenebrio molitor (yellow mealworm) larvae whose diets were supplemented with apple pomace were analyzed after a 4-week feeding study to examine the nutritional quality of the insects for use as a future potential food source. Going forward, the terms “mealworm(s)”, "yellow mealworm(s)”, “T. molitor” will be used interchangeably and will always refer to the same species. The mealworm larvae were randomly divided into two groups: in addition to standard worm chow, one group was given 15 g/week of non-nutritive water-storing polymer crystals and the other was given apple pomace …


Examining The Relationships Between Socio-Cognitive Factors And Neural Synchrony During Movie Watching Across Development, Kathleen M. Lyons Aug 2022

Examining The Relationships Between Socio-Cognitive Factors And Neural Synchrony During Movie Watching Across Development, Kathleen M. Lyons

Electronic Thesis and Dissertation Repository

While different cognitive abilities mature, the conscious experiences of children likely become richer and more elaborate. A challenge in investigating relationships between cognitive development and real-world experiences is having measures that assess naturalistic processing. Movie watching offers a solution, since following the plot of a film requires cognitive processes that are similar to real-world experiences. When different adults watch the same film, their brain activity begins to align (known as neural synchrony). The strength of this alignment has been shown to reflect the degree to which different individuals are having a similar experience of the movie. While this phenomenon has …


The Default Network And Autism Spectrum Disorder: Characterizing Sub-Networks And Behavioral Correlates, Alyssa K. Kozlowski Jun 2022

The Default Network And Autism Spectrum Disorder: Characterizing Sub-Networks And Behavioral Correlates, Alyssa K. Kozlowski

Theses and Dissertations

The default network (DN), and specifically its sub-networks default network A (DN A) and default network B (DN B), has been strongly implicated in social cognition. This study examined its role in predicting social behavior, and also differences that may exist across diagnostic groups that may explain discrepancies in social cognition and behavior. One of the popular methods of study is functional connectivity, or analyzing correlated activity in the brain. Autism Spectrum Disorder (ASD) is a disorder characterized by social impairment and abnormal social behavior. To date, much of the functional connectivity research in ASD has focused on global connectivity, …


On The Roles Of Trait Anxiety And Toll Like Receptor 4 In Amphetamine Sensitization In Adolescent Male Rats, Corey A. Calhoun May 2022

On The Roles Of Trait Anxiety And Toll Like Receptor 4 In Amphetamine Sensitization In Adolescent Male Rats, Corey A. Calhoun

Graduate Doctoral Dissertations

Mammalian adolescence can be a difficult transition from childhood to adulthood, where increases in impulsivity and novelty- and risk-seeking are combined with heightened affect and elevated sensitivity to stress. Indeed, during adolescence, first drug use patterns emerge and in the continental United States, increasing misuse of amphetamines has been observed in adolescent youth. Myriad neural mechanisms underlie this shift in adolescence, including the dynamic remodeling of the mesocorticolimbic (MCL) pathway. Repeated drug administration affects neuroimmune substrates within the MCL circuit including toll-like receptor 4 (TLR4)Advances in addiction neuroscience indicate that drugs of abuse activate neural TLR4 and implicate glial TLR4 …


The Effects Of Executive Function Between Anxiety And Math Achievement In Adolescents, Mckenzie Hall May 2022

The Effects Of Executive Function Between Anxiety And Math Achievement In Adolescents, Mckenzie Hall

UNLV Theses, Dissertations, Professional Papers, and Capstones

Anxiety in Children can develop into pervasive disorders in adulthood if not treated. Research shows dysfunctional Executive Function (EF) and anxiety are both shown to have a negative impact on math achievement in children and adolescents (Trezise & Reeve, 2018; Kalaycioglu, 2015; Owens, Stevenson, Hadwin & Norgate, 2012). Chung, Weyandt, and Swentosky (2014) found biological and neuropsychological support for EF as a unitary and multifaceted processor for regulating our emotional states as well as our daily procedures. Anderson’s (2002) model of Executive Control System (ECS) allows the factors of EF to be examined using a developmental approach towards EF processes. …


Sex And Age Differences In Approach Behavior Toward A Port That Delivers Nicotine Vapor, Veronika Evangelina Espinoza May 2022

Sex And Age Differences In Approach Behavior Toward A Port That Delivers Nicotine Vapor, Veronika Evangelina Espinoza

Open Access Theses & Dissertations

The goal of our laboratory is to study the mechanisms that promote nicotine use, particularly in vulnerable populations such as adolescents and females. Thus, the purpose of this thesis was to characterize age and sex differences in the motivational/rewarding effects of nicotine (Aim 1) and withdrawal behavior (Aim 2). To more closely model human use patterns, the present study employed nicotine vapor methods involving passive exposure for 14 days in adolescent and adult female and male rats. Age and sex differences in approach behavior (nosepokes) were assessed in a port that delivered nicotine plumes on Day 1 and 14. Controls …


Characterizing The Expression Pattern And Function Of Tartan During Drosophila Development, Alaina Baggett May 2022

Characterizing The Expression Pattern And Function Of Tartan During Drosophila Development, Alaina Baggett

Biomedical Engineering Undergraduate Honors Theses

The development of complex structures and organs by multicellular organisms relies on the ability of epithelial cells to self-organize. Epithelia are sheets of connected cells, and compartment boundaries are formed between certain epithelial cells to create distinct tissue compartments. Compartment boundaries are specialized cell-cell interfaces that are enriched for the cytoskeletal proteins actin and myosin, leading to straight cell edges under relatively high tension that act as fences keep cells from moving between compartments. In the model organism Drosophila melanogaster (fruit fly), compartment boundaries in the early embryo are established in response to the non-uniform striped expression of the cell-surface …


The Influence Of Thc, Opioids, And Age On The Plasticity Of Excitatory Inputs To Ventral Tegmental Area Gaba Neurons, Isaac Brent Ostlund Apr 2022

The Influence Of Thc, Opioids, And Age On The Plasticity Of Excitatory Inputs To Ventral Tegmental Area Gaba Neurons, Isaac Brent Ostlund

Theses and Dissertations

Adults exhibit significant differences in drug vulnerability, learning ability, and emotive processing than adolescents. Long-lasting synaptic changes, including long-term depression (LTD), can endure many hours and are believed to be key to encoding memories and persistent cognitive changes such as addiction. The ventral tegmental area (VTA) is the primary source of midbrain dopamine (DA) and is regulated by local inhibitory GABA neurons. GABA regulation can decrease, resulting in dis-inhibition of DA neurons and increased feelings of reward, learning, or salience attachment to memories. Endocannabinoids (eCBs) are signaling molecules that often result in synaptic plasticity changes, and the eCB system has …


An Analysis Of The Involvement Of Toll Receptors In Cell Movements During The Elongation Of Tribolium Castaneum, Kathryn Russell Apr 2022

An Analysis Of The Involvement Of Toll Receptors In Cell Movements During The Elongation Of Tribolium Castaneum, Kathryn Russell

Senior Theses and Projects

Elongation of the anterior/posterior body axis is a critical part of embryonic development. Cell movements are known to play a significant role in embryo elongation in the red flour beetle Tribolium castaneum. In the arthropod model organism, Drosophila, Toll receptors have a demonstrated role in the elongation of the embryo by driving convergent extension, in which rows of cells intercalate with one another in one direction to extend tissue in the other. In Drosophila, Toll receptors are a link between anterior-posterior patterning genes expressed in discrete stripes and effector molecules causing cell movements. This cell movement is caused …


Spatiotemporal Characterization Of The Prr12 Paralogues In Zebrafish, Renee Jeannine Resendes Feb 2022

Spatiotemporal Characterization Of The Prr12 Paralogues In Zebrafish, Renee Jeannine Resendes

Electronic Thesis and Dissertation Repository

Pathogenic variants in the human PRR12 (Proline Rich 12) gene are associated with PRR12-related Neuroocular Syndrome. However, little is known about the gene/protein function. The zebrafish was utilized to address this, as its attributes place it as a premier model to study genes involved in human development and disease. In situ hybridization and RT-PCR of embryos and larvae, and qRT-PCR of adult tissues revealed the spatial and temporal distributions of the prr12 paralogues: prr12a and prr12b. Both paralogues were detected from the maternal and zygotic transcriptomes in a global and diffuse expression pattern, and there was enrichment …


The Effect Of Ethanol On Cellular Movements And Development In C. Elegans, Caitlin N. O'Connor Jan 2022

The Effect Of Ethanol On Cellular Movements And Development In C. Elegans, Caitlin N. O'Connor

West Chester University Master’s Theses

Neural tube development, which gives rise to the central nervous system, is vital to embryonic development. Neural tube defects, like spina bifida, are serious and common congenital defects which can result in life-long medical complications. Folic acid has been used as a preventative measure for neural tube defects and has appeared to decrease the occurrences of neural tube defects. However, the mechanism behind folic acid’s role in neural tube development is unclear. Furthermore, some evidence suggests that ethanol decreases the levels of folates and folate coenzymes in the fetal brain and downregulates folic acid metabolism genes. To better understand the …


Investigating The Role Of Chd7 And Sox11 In Retinal Cell Development And The Ocular Complications Of Charge Syndrome, Laura Krueger Jan 2022

Investigating The Role Of Chd7 And Sox11 In Retinal Cell Development And The Ocular Complications Of Charge Syndrome, Laura Krueger

Theses and Dissertations--Biology

Proper formation of the visual system requires the precise interaction of several embryonic cell lineages, including the neuroectoderm (forms the retina and retinal pigment epithelium), surface ectoderm (forms the lens), mesoderm and cranial neural crest cells (form the ocular blood vessels and anterior ocular structures). When this process is disrupted structural birth defects such as coloboma result, leading to pediatric visual deficits. Ocular developmental defects are often present in larger syndromic disorders. One example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Pathogenic variants in CHD7 have been …


Understanding The Effects Of Embryonic Hyperglycemia On Retinal Development And Maintenance, Kayla Titialii-Torres Jan 2022

Understanding The Effects Of Embryonic Hyperglycemia On Retinal Development And Maintenance, Kayla Titialii-Torres

Theses and Dissertations--Biology

Hundreds of millions of people are affected by diabetes worldwide. Whether they are diagnosed with prediabetes or Type I or II diabetes, there are a variety of mechanisms in the pathogenesis of diabetes. Diabetes is a disease which consists of recurring states of hyperglycemia that can be difficult to manage due to either lack of insulin production or improper utilization of insulin. While these mechanisms of action differ, complications induced by diabetes occur in both poorly regulated Type I and II. Common complications of diabetes include nerve damage, kidney damage, and eye damage. Eye damage specifically is called diabetic retinopathy …


Multiple Approaches To Auditory Rhythm: Development Of Sustained Musical Beat And The Relation To Language, Development Of Rhythmic Categories Via Iterated Production, And A Meta-Analytic Study Of Neural Entrainment To Beat, Karli Marie Nave Dec 2021

Multiple Approaches To Auditory Rhythm: Development Of Sustained Musical Beat And The Relation To Language, Development Of Rhythmic Categories Via Iterated Production, And A Meta-Analytic Study Of Neural Entrainment To Beat, Karli Marie Nave

UNLV Theses, Dissertations, Professional Papers, and Capstones

Rhythm is ubiquitous to human communication, coordination, and experience of music. In this dissertation, I address three empirical questions through three different methodologies, all of which contribute to the growing body of literature on human auditory rhythm processing. In Chapter 2, I present a registered report detailing the results of independent conceptual replications of Nozaradan, Peretz, Missal, & Mouraux (2011), all using the same vetted protocol. Listeners performed the same tasks as in Nozaradan et al. (2011), with the addition of behavioral measures of perception. In neuroscience, neural correlates to musical beat perception have been identified, yet little to no …


Sex Differences In Context Fear Neural Circuitry And Behavior Across Development, Lorianna Marie Colon Dec 2021

Sex Differences In Context Fear Neural Circuitry And Behavior Across Development, Lorianna Marie Colon

Legacy Theses & Dissertations (2009 - 2024)

Over the span of five decades, staggering progress has been made in elucidating the neural circuits involved in fear learning. Research focused on rodents and healthy individuals has been instrumental in elucidating how abnormalities in this circuitry may lend to increased prevalence of various fear and anxiety disorders. However, many of the key findings concerning the acquisition, storage, and retrieval of fear memories have been established in the adult male rodent, leaving a gap in knowledge as to whether females and developing animals process fear and stress inducing information in a similar fashion. Compared to men, women are twice as …


Activation Of Nrf2 At Critical Windows Of Development Alters Protein S-Glutathionylation In The Zebrafish Embryo (Danio Rerio), Emily G. Severance Oct 2021

Activation Of Nrf2 At Critical Windows Of Development Alters Protein S-Glutathionylation In The Zebrafish Embryo (Danio Rerio), Emily G. Severance

Masters Theses

Perturbation of cellular redox homeostasis to a more oxidized state has been linked to adverse human health effects such as diabetes and cancer. However, the impact of altering the regulation of redox homeostasis during development is not fully understood. Specifically, this project investigates the role of the Nrf2 antioxidant response pathway and its effect on glutathione (GSH; cellular redox buffer) at critical windows of development. To explore this, we used zebrafish embryos (Danio rerio) as a model due to the function of GSH and the Nrf2 being conserved among vertebrates. We exposed zebrafish embryos to three Nrf2 activators: two antioxidant …


The Role Of Tbx2 In Germ Layer Suppression And Dorsoventral Patterning During Early Vertebrate Development, Shoshana Reich Sep 2021

The Role Of Tbx2 In Germ Layer Suppression And Dorsoventral Patterning During Early Vertebrate Development, Shoshana Reich

Dissertations, Theses, and Capstone Projects

The differentiation of the three primary germ layers is precisely regulated by inductive cues, the intracellular networks through which these signals are transduced, and a broad array of nuclear proteins, such as transcription factors and epigenetic modifiers. Precise regulation of these various factors is crucial to proper development. Members of the T-box family of DNA-binding proteins play a prominent role in the differentiation of the three primary germ layers. VegT, Brachyury, and Eomesodermin function as transcriptional activators, are expressed in the presumptive mesendoderm and, in addition to directly activating the transcription of endoderm- and mesoderm-specific genes, serve variously as regulators …


Vestibulospinal Circuit In The Larval Zebrafish, Zhikai Liu Aug 2021

Vestibulospinal Circuit In The Larval Zebrafish, Zhikai Liu

Arts & Sciences Electronic Theses and Dissertations

The vestibular system sense gravity and self-motion to help animals maintain body balance. Although vestibular signals inform the brain of the directions and speed of our body movements, it still remains unclear how these sensory information are processed and organized in the central nervous system. My thesis aims to illustrate neural computation underlying central vestibular tuning and the topographic organization of the vestibular circuits. First I established a novel approach to perform whole-cell recording of synaptic inputs in vivo during multi-axis movements in the central vestibular neurons. This technical advance allowed me to simultaneously measure presynaptic and postsynaptic tuning, along …


The Origins & Functional Effects Of Postzygotic Mutations Throughout The Human Lifespan, Nicole Briana Rockweiler Aug 2021

The Origins & Functional Effects Of Postzygotic Mutations Throughout The Human Lifespan, Nicole Briana Rockweiler

Arts & Sciences Electronic Theses and Dissertations

Mosaicism is pervasive in humans and yet we understand little of its causes and functional consequences across the lifespan. To help solve these mysteries, we developed a suite of tools, called Lachesis, to analyze postzygotic mutations (PZMs). LachesisDetect is a novel and accurate method to detect PZMs with VAFs as low as 0.04% from bulk RNA-seq samples. LachesisMap is an innovative supervised method to reconstruct postzygotic mutation phylogenies from putative prenatal PZMs. We applied Lachesis to 17,382 samples derived from 948 donors across 54 diverse tissues and cell types from the NIH’s Genotype-Tissue Expression (GTEx) project to produce the most …