Genetics Commons^™

Whole Genome Sequence Data Implicate Rbfox1 In Epilepsy Risk In Baboons, Mark Z. Kos, Melanie A. Carless, Lucy Blondell, Mary M. Leland, Koyle D. Knape, Harald H. H. Goring, Charles A. Szabo

Research Symposium

Background: Baboons exhibit a genetic generalized epilepsy (GGE) that resembles juvenile myoclonic epilepsy and may represent a suitable genetic model for human epilepsy. The genetic underpinnings of epilepsy were investigated in a baboon colony at the Southwest National Primate Research Center (San Antonio, TX) through the analysis of whole-genome sequence (WGS) data.

Methods: Baboon WGS data were obtained for 38 cases and 19 healthy controls from the NCBI Sequence Read Archive and, after standard QC filtering, two subsets of variants were examined: (1) 20,881 SNPs from baboon homologs of 19 candidate GGE genes; and (2) 36,169 protein-altering SNPs. Association tests …

Antp Transcriptional Activity Is Modulated By The Formation Of The Trimeric Antp-Tbp Complexes With Tfiieβ, Exd And Bip2, Norma C. Hernández Bautista, Gustavo Jiménez Mejía, Claudia Altamirano Torres, Diana Reséndez Pérez

Research Symposium

Homeoproteins are transcriptional factors that bind to DNA through a highly conserved binding domain known as the homeodomain (HD) which recognizes short regions rich in AT to control the development of the body appendages of organisms. However, their structural and recognition similarities make it difficult to explain how homeoproteins are capable of carrying out their function. Previous results have shown that Antp homeoprotein can establish dimeric interactions with TBP, TFIIEβ, Exd, BIP2 and more recently through BiFC-FRET we confirmed that Antp and TBP can form trimeric complexes with TFIIEβ/Exd/BIP2. Therefore, is important to show how these trimeric complexes modulate Antp …

Prevalência Do Genótipo De Risco G1/G2 Do Gene Da Apolipoproteína L1 (Apol1) E Associação Com Doença Renal Crônica Não Diabética Em Autodeclarados Negros No Sul Do Brasil, Celia Mariana Souza, Maicon Douglas Torely, Mauro Ribeiro Soares Junior, Wiliam Cardoso Silva, Bibiana Sampaio Oliveira Fam, Giovanna Giudicelli, Thayne Kwalski, Marilea Feira Furtado, Renan Barbosa Lemes, Lygia Veiga Pereira, Tábita Hunemeier, Francisco Verissimo Veronese, Fernanda Sales Luiz Vianna

AMNET XX Conferencia Internacional

Introdução: A doença renal crônica (DRC) possui uma prevalência de 10% entre os brasileiros. A presença de dois alelos de risco chamados G1 e G2 do gene da Apo lipoproteína L1 ( APOL1 ), mais frequente em indivíduos associados de ascendência africana e foram à DRC.

Objetivos: Determinar a prevalência dos alelos e genótipo de APOL1 em pacientes portadores de DRC em comparação com indivíduos afrodescendentes saudáveis.

Métodos: Estudo caso controle, realizado nos ambulatórios de Nefrologia do hospital de Clínicas de Porto Alegre, na Santa Casa de Misericórdia de Porto Alegre; Clínicas de hemodiálise Grande Porto Alegre Litoral e Cidades …

The Use Of Prognostic Markers To Predict Disease Progression And Clinical Outcome In Monoclonal Gammopathy Of Undetermined Significance, Smouldering Multiple Myeloma And Multiple Myeloma., Róisín C. Mcmonagle

International Undergraduate Journal of Health Sciences

Multiple Myeloma (MM) is an incurable plasma cell malignancy with a complex and incompletely understood molecular pathogenesis. Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smouldering Multiple Myeloma (SMM) precede MM, with variable risks and rates of disease progression. The continuing high relapse and death rate in MM cases has prompted research into more accurate prognostic markers to predict progression from MGUS and SMM to MM, as well as identify MM cases with aggressive disease, in order to begin early, targeted and effective therapeutic intervention. Many studies have focused on utilising current markers more effectively, including M-protein, serum-free light chain ratio, …

Appendage Abnormalities In Spiders Induced By An Alternating Temperature Protocol In The Context Of Recent Advances In Molecular Spider Embryology, Teresa Napiorkowska, Julita Templin, Pawel Napiorkowski, Mark A. Townley

Faculty Publications

In the literature there are numerous reports of developmental deformities in arthropods collected in their natural habitat. Since such teratogenically affected individuals are found purely by chance, the causes of their defects are unknown. Numerous potential physical, mechanical, chemical, and biological teratogens have been considered and tested in the laboratory. Thermal shocks, frequently used in teratological research on the spider Eratigena atrica, have led to deformities on both the prosoma and the opisthosoma. In the 2020/2021 breeding season, by applying alternating temperatures (14 °C and 32 °C, changed every 12 h) for the first 10 days of embryonic development, …

Transcriptional Pausing Factor M1bp Regulates Cellular Homeostasis By Suppressing Autophagy And Apoptosis In Drosophila Eye, Anuradha Venkatakrishnan Chimata, Hannah Darnell, Akanksha Raj, Madhuri Kango-Singh

Biology Faculty Publications

During organogenesis cellular homeostasis plays a crucial role in patterning and growth. The role of promoter proximal pausing of RNA polymerase II, which regulates transcription of several developmental genes by GAGA factor or Motif 1 Binding Protein (M1BP), has not been fully understood in cellular homeostasis. Earlier, we reported that M1BP, a functional homolog of ZKSCAN3, regulates wingless (wg) and caspase-dependent cell death (apoptosis) in the Drosophila eye. Further, blocking apoptosis does not fully rescue the M1BP^RNAi phenotype of reduced eye. Therefore, we looked for other possible mechanism(s). In a forward genetic screen, members of the Jun-amino-terminal-(NH2)-Kinase (JNK) pathway …

A Protocol For Genetic Analysis At Different Stages Of The Nuclear Division Cycle In Neurospora Crassa, Kotaro Tsukada, Shin Hatakeyama, Shuuitsu Tanaka

Fungal Genetics Reports

The filamentous fungus Neurospora crassa is an organism that contains multiple nuclei in the asexual conidia and hyphae. Since the nuclei of dormant conidia are arrested at various points in the nuclear division cycle, it has been difficult to analyze drug sensitivity at the specific point of the cycle in N. crassa. In this study, we have established a useful method for analysis at different stages of the nuclear division cycle in N. crassa. This assay will be a reference for researchers to use the synchronized culture in other diverse analyses.

Isolation Of Arabidopsis Thaliana Plants Homozygous For An Insertional Inactivation Mutation Within Atprp4., Sydney Raitz, Timothy D. Trott

Research in Biology

The AtPRP4 gene in Arabidopsis thaliana has been shown to function in several specific parts of the plant’s cell wall. It is shown to be expressed in the seeds, radicles, roots, leaves, inflorescences, and embryos of Arabidopsis thaliana. These patterns have suggested unique functions for ATPRP4 in determining cell-type-specific wall structure during the development of a plant as well as contributing to defense reactions against physical damage to the plant and pathogen infection within the plant. In this study, a simple DNA prep was performed on the true leaves of Arabidopsis thaliana. Subsequent PCR reactions were performed using …

Upland Cotton And Nematodes: An Analysis Of Historical Resistance, Upcoming Threats, And Co-Inoculation Effects, Amanda Gaudin

Theses and Dissertations

Upland cotton (Gossypium hirsutum ) is an important fiber crop grown throughout the southern United States. Plant-pathogenic nematodes are worm-like animals that feed on the roots of most agronomic crops, including cotton. The southern root-knot nematode (Meloidogyne incognita, RKN) and the reniform nematode (Rotylenchulus reniformis, RN) cause significant yield losses in cotton every year. Current sources of resistance are effective but limited, therefore historical screenings of cotton accessions were revisited in search for novel resistance sources. None were identified but many of the screened accessions possessed markers of known root-knot nematode and reniform nematode resistance. …

Examining The Different Soil Horizons Of White Oak Mountain, Tn And Their Effect On The Soil Microbial Community, Ji Won Moon, Timothy D. Trott

Research in Biology

Soil microorganisms participate in the diverse interaction within virtually all ecosystems, consequently affecting the associated human and animal population. Identifying how edaphic variables alter the functional and taxonomic diversity of the soil microbial community requires an examination of total microbial soil diversity and abundance. This research study examined the effect of soil depth and horizon on the soil microbial community composition of White Oak Mountain. The soil microbial community was characterized by 16S/18S/ITS rDNA amplicon sequencing of the DNA extract of six samples from the three major soil types identified: HcE, MoE, and uMvC. OTU clustering analysis and both alpha …

The Impact Of Soil Disturbance On Soil Bacterial Community Composition, Marie A. Rodriguez, Mark Peach, Timothy D. Trott

Research in Biology

Soil bacterial communities are an important part of terrestrial ecosystems due to their roles in biogeochemical cycling processes. Consequently, understanding how soil disturbance affects the soil bacterial diversity is vital to understanding the entire ecosystem. In this study we examined the effects of soil disturbance (by mining) on the soil bacterial community composition from three sites on Bauxite Ridge in Southeast Tennessee compared to three undisturbed sites in a nearby location. The soil bacterial community was analyzed by 16S rDNA amplicon sequencing of total DNA extracted from the soil samples collected from each of the six sites. Characterization of the …

A Systems Genetics Approach To Drosophila Melanogaster Models Of Rare And Common Neurodevelopmental Disorders, Rebecca Macpherson

All Dissertations

Fetal Alcohol Spectrum Disorders are a group of disorders resulting from prenatal alcohol exposure, presenting with neurodevelopmental and facial abnormalities of varying severity. SSRIDDs and CdLS are rare disorders of chromatin modification, resulting in patients with a wide range of craniofacial, digit and/or neurodevelopmental abnormalities. All of these disorders have a wide range of clinical phenotypes and disease severity, yet the role of potential genetic modifiers and gene-gene or gene-environment interactions in disease pathogenesis is largely unknown and cannot be studied in humans. Insufficient numbers of patients with a single rare disorder prevent investigation of genetic factors beyond the focal …

Utilizing Crispr Cas9 To Visualize Dopamine Receptors In Caenorhabditis Elegans, Lauren Michelle Velasquez

Electronic Theses, Projects, and Dissertations

Dopamine (DA) is a neurotransmitter with imperative implications in many functions including movement, reward, and cognition. Studying the pathways of dopaminergic neurons at multiple levels allows us to understand the ways in which these systems can go wrong. We study dopamine in a model system such as the worm Caenorhabditis elegans because of its relatively simple and well-characterized nervous system. DA is involved in regulating chemosensory behaviors in worms. The purpose of this research project is to definitively answer the following question: Are the dopamine receptors DOP-1 and DOP-4 expressed in chemosensory neurons? Previous reporter assays show that neither of …

Draft South Coast Offshore Crustacean Resource Of Western Australia Harvest Strategy. Version 1.1., Department Of Primary Industries And Regional Development, Western Australia

Fisheries management papers

Harvest strategies for aquatic resources in Western Australia (WA) that are managed by the Department of Primary Industries and Regional Development (DPIRD, the Department) are formal documents that ensures decision-making processes are consistent with the principles of Ecologically Sustainable Development (ESD; Fletcher 2002) and Ecosystem Based Fisheries Management (EBFM; Fletcher et al. 2012). The objectives of ESD are reflected in the objects of the Fish Resources Management Act 1994 (FRMA) and the Aquatic Resources Management Act 2016 (ARMA), which is anticipated replace the FRMA once enacted. At this point, the Fish Resources Management Regulations 1995 (FRMR) is also anticipated to …

Mid-Gestation Maternofetal Inflammation Impacts Growth, Skeletal Muscle Glucose Metabolism, And Inflammatory Tone In The Ovine Fetus During Late Gestation, Zena Hicks

Theses and Dissertations in Animal Science

Our 1^st and 2^nd studies assessed the impact of mid-gestation maternofetal inflammation on growth, skeletal muscle glucose metabolism, and inflammatory tone in the late gestation ovine fetus. The objective was to determine if inducing maternofetal inflammation during peak placental growth would lead to more profound IUGR characteristics in the fetus. MI-IUGR fetuses exhibited reduced body and skeletal muscle weights and hallmark asymmetric growth at late gestations. Fetuses had higher baseline glucose:insulin ratios and reduced glucose-stimulated insulin secretion. Moreover, hindlimb glucose oxidation was impaired independent of glucose uptake. Skeletal muscle specific glucose uptake and oxidation was reduced in MI-IUGR …

N-Acetyltransferase 9 Ameliorates Aβ42-Mediated Neurodegeneration In The Drosophila Eye, Prajakta Deshpande, Anuradha Venkatakrishnan Chimata, Emily E. Snider, Aditi Singh, Madhuri Kango-Singh, Amit Singh

Biology Faculty Publications

Alzheimer’s disease (AD), a progressive neurodegenerative disorder, manifests as accumulation of amyloid-beta-42 (Aβ42) plaques and intracellular accumulation of neurofibrillary tangles (NFTs) that results in microtubule destabilization. Targeted expression of human Aβ42 (GMR > Aβ42) in developing Drosophila eye retinal neurons results in Aβ42 plaque(s) and mimics AD-like extensive neurodegeneration. However, there remains a gap in our understanding of the underlying mechanism(s) for Aβ42-mediated neurodegeneration. To address this gap in information, we conducted a forward genetic screen, and identified N-acetyltransferase 9 (Mnat9) as a genetic modifier of GMR > Aβ42 neurodegenerative phenotype. Mnat9 is known to stabilize microtubules by inhibiting c-Jun-N- …

Differences In Plant Hormone Responses Between Arabidopsis Thaliana And Schrenkiella Parvula Facing Lithium Toxicities, Jifeng Li

LSU Doctoral Dissertations

Investigating stress responses in plants is central to plant development studies and crop research. Identifying mechanisms of plant abiotic stress tolerance and adaptation will be keys to relieve the conflict between an increasing global population and declining agronomic land. Studies on extremophytes and their genetic responses to environmental stress are a way to help understand how and why these extremophile plants can develop well under extreme environments including high salinity and heavy metal toxicity. The studies herein first focus on comparative responses at the genetic level to lithium toxicity between Arabidopsis thaliana and Schrenkiella parvula. Based on elemental quantification …

Characterization Of Antimicrobial Properties Of Excrement And Functional Microbiome Of Black Vultures (Coragyps Atratus), Bridgette Gray

Theses

Black vultures, Coragyps atratus, are obligate scavenging birds that consume and dispose of decaying carcasses and carrion. They fulfill a key ecological niche in the environments in which they live. It has been observed that these vultures sometimes excrete bodily waste onto their legs. This adaptive behavior could help aid them in controlling bacteria and other microbes they encounter while stepping into a carcass to eat. This study directly examined the antimicrobial properties of the excrement of black vultures across various bacterial species utilizing a zone of inhibition test and a nematode species utilizing a survival assay. The black vulture …

Elucidating The Neural Circuitry Underlying Social Spacing In Drosophila Melanogaster Through The Lens Of Neuroligin 3, Abigail T. Bechard

Electronic Thesis and Dissertation Repository

Social interactions among animals can be complex, and abnormal social behaviours may result in negative fitness consequences for both the individual displaying them, and the entire group. To understand the neural basis of complex social behaviour, we can study simpler behaviours that precede and mediate them. Social spacing, the typical distance between individuals in a group, is an easily quantifiable behaviour in Drosophila melanogaster. Here, I investigated the neural circuitry underlying social spacing through the lens of Autism-candidate gene neuroligin 3. Based on the Nlg3 enrichment pattern in adult fly brains, I hypothesized that nlg3-expressing neurons, along …

Investigating The Role Of Holoenzyme C In Restoring Replication Following Uv-Induced Dna Damage In Escherichia Coli, Rahul Shimpi

University Honors Theses

The recovery of replication following UV-induced DNA damage in Escherichia coli correlates with the time at which the lesions are repaired, suggesting that the two processes may be coupled. holC encodes the Chi-subunit of replicative DNA polymerase III, and is nonessential for viability, but renders cells hypersensitive to UV-induced damage when mutated, suggesting it may play a specific role in restoring replication when it encounters DNA damage. Here, I characterized the role of HolC in restoring DNA replication following disruption by UV-induced damage. I found that survival following UV in strains deleted for holC was similar to that of strains …