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2019

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Articles 91 - 120 of 578

Full-Text Articles in Genetics and Genomics

The Vaccinia Virus (Vacv) B1 And Cellular Vrk2 Kinases Promote Vacv Replication Factory Formation Through Phosphorylation-Dependent Inhibition Of Vacv B12, Amber B. Rico, Zhigang Wang, Annabel T. Olson, Alexandria C. Linville, Brianna L. Bullard, Eric A. Weaver, Clinton Jones, Matthew S. Wiebea Oct 2019

The Vaccinia Virus (Vacv) B1 And Cellular Vrk2 Kinases Promote Vacv Replication Factory Formation Through Phosphorylation-Dependent Inhibition Of Vacv B12, Amber B. Rico, Zhigang Wang, Annabel T. Olson, Alexandria C. Linville, Brianna L. Bullard, Eric A. Weaver, Clinton Jones, Matthew S. Wiebea

Nebraska Center for Virology: Faculty Publications

Comparative examination of viral and host protein homologs reveals novel mechanisms governing downstream signaling effectors of both cellular and viral origin. The vaccinia virus B1 protein kinase is involved in promoting multiple facets of the virus life cycle and is a homolog of three conserved cellular enzymes called vaccinia virus-related kinases (VRKs). Recent evidence indicates that B1 and VRK2 mediate a common pathway that is largely uncharacterized but appears independent of previous VRK substrates. Interestingly, separate studies described a novel role for B1 in inhibiting vaccinia virus protein B12, which otherwise impedes an early event in the viral lifecycle. Herein, …


Remote Sensing Of Ploidy Level In Quaking Aspen (Populus Tremuloides Michx.), Benjamin Blonder, Bente J. Graae, Burke Greer, Marja Haagsma, Kenny Helsen, Rozália E. Kapás, Henry Pai, Jolanta Rieksta, Dillon Sapena, Christopher J. Still, Richard Strimbeck Sep 2019

Remote Sensing Of Ploidy Level In Quaking Aspen (Populus Tremuloides Michx.), Benjamin Blonder, Bente J. Graae, Burke Greer, Marja Haagsma, Kenny Helsen, Rozália E. Kapás, Henry Pai, Jolanta Rieksta, Dillon Sapena, Christopher J. Still, Richard Strimbeck

Aspen Bibliography

  1. Ploidy level in plants may influence ecological functioning, demography and response to climate change. However, measuring ploidy level typically requires intensive cell or molecular methods.
  2. We map ploidy level variation in quaking aspen, a dominant North American tree species that can be diploid or triploid and that grows in spatially extensive clones. We identify the predictors and spatial scale of ploidy level variation using a combination of genetic and ground‐based and airborne remote sensing methods.
  3. We show that ground‐based leaf spectra and airborne canopy spectra can both classify aspen by ploidy level with a precision‐recall harmonic mean of 0.75–0.95 and …


How The Atacama Skeleton Might Advance Discussion Of Responsible Conduct Of Research Responsibilities, Thomas May, Mariko Nakano-Okuno Sep 2019

How The Atacama Skeleton Might Advance Discussion Of Responsible Conduct Of Research Responsibilities, Thomas May, Mariko Nakano-Okuno

Human Biology Open Access Pre-Prints

Controversies resulting from genetic testing on skeletal remains of disputed stewardship raise important questions about obligations inherent on genetic researchers to assure ethical chain of custody. In this paper, we analyze and evaluate several proposed positions on whether such research should be published. Following jurisprudential standards for legitimate regulatory systems, we argue that responsible conduct of research requires reasonable attention to chain of custody, but cannot require guarantees, particularly in cases of ancient remains.


Genetic Overview Of The Maya Populations: Mitochondrial Dna Haplogroups, Angélica González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, Lourdes Márquez-Morfín, Allan Ortega-Muñoz Sep 2019

Genetic Overview Of The Maya Populations: Mitochondrial Dna Haplogroups, Angélica González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, Lourdes Márquez-Morfín, Allan Ortega-Muñoz

Human Biology Open Access Pre-Prints

We identified the mitochondrial DNA haplogroups A, B, C and D in 75 present-day Maya individuals, 24 Maya individuals of the colonial period and one pre-Columbian Maya individual from Quintana Roo, Mexico. We examined these data together with those of 21 Maya populations accounting for 647 present-day Maya individuals and 104 ancient Maya individuals. A demographic study based on the analysis of fertility and endogamy was carried out in two modern Maya populations to identify cultural factors that influence the mitochondrial haplogroup genetic diversity. Most present-day and ancient Maya populations show a distribution pattern of mitochondrial haplogroup frequencies A, C, …


Genetic Variants Of Duffy And Hemoglobin S Genes In An Afrodescendent Population From Columbia, Diana C. Ortega, Heiber Cardenas, Guillermo Barreto Sep 2019

Genetic Variants Of Duffy And Hemoglobin S Genes In An Afrodescendent Population From Columbia, Diana C. Ortega, Heiber Cardenas, Guillermo Barreto

Human Biology Open Access Pre-Prints

Malaria is an endemic disease in a large part of Colombia, and the city of Buenaventura reports one of the highest malaria infection rates. Some genetic variants confer resistance to malaria, such as the heterozygote for hemoglobin S (HbS) and the homozygous variant FYBES/FYBES of the Duffy gene. The aim of this work was the molecular characterization of these genes in an afrodescendent population from the urban area of Buenaventura. A total of 819 individuals from a stratified random sampling in each of the 12 communities of this city were analysed. Molecular analysis was performed using PCR-RFLP, …


Complexity, Genetic Causation, And Hereditarianism, Charles Roseman Sep 2019

Complexity, Genetic Causation, And Hereditarianism, Charles Roseman

Human Biology Open Access Pre-Prints

Hereditarians have claimed that recent advances in psychological and psychiatric genetics support their contention that individual and group socially important aspects of behavior and cognition are largely insensitive to environmental context. This has been countered by anti- hereditarians who (correctly) claim that the conclusion of genetic ineluctability is false. Anti- hereditarians, however, sometimes use problematic arguments based on complexity and the ignorance that comes with complexity and a demand for mechanistic, as opposed to variational, explanations for the ways in which genes affect phenotype. I argue here, as a committed anti-hereditarian, that the complexity gambit and the demand for mechanisms …


Ontogenesis Of The Sella Turcica Among Egyptians: Forensic And Radiological Study, Wafaa Mohamed El-Sehly, Fatma Mohamed Magdy Badr El Dine, Mohamed Samir Shaban Sep 2019

Ontogenesis Of The Sella Turcica Among Egyptians: Forensic And Radiological Study, Wafaa Mohamed El-Sehly, Fatma Mohamed Magdy Badr El Dine, Mohamed Samir Shaban

Human Biology Open Access Pre-Prints

Introduction: The sella turcica has gained importance as a stable bony landmark in cephalometric studies.
Aim of the work: The aim of the work was to explore the changes that accompany postnatal ontogeny of the sella turcica until full development, and to verify its contribution in age estimation and sexual assignment among Egyptians.
Subjects and methods: Six selected measurements of the sella turcica of 215 Egyptian patients were assessed using Multidetector Computed Tomography (MDCT). The patients represented different ages and were referred to the Radiodiagnosis and Intervention Department. The gathered data were then subjected to statistical analysis including correlation and …


Creating A Molecular Map Of The Pediatric Lung, Quinlen F. Marshall Sep 2019

Creating A Molecular Map Of The Pediatric Lung, Quinlen F. Marshall

Forum Lectures

The newborn lung undergoes vast biochemical and physiological changes during adaptation from the intrauterine to the extrauterine environment. Lung morphogenesis continues from birth into early childhood, mediated by dynamic gene expression and a diversity of pulmonary cell types that exhibit remarkable heterogeneity. (Whitsett, JA. et al. Physiol. Rev, 2019). Surprisingly, few studies have solely focused on human lung development during this critical period, and many current studies of lung maturation rely on adult, murine, or diseased samples, limiting their insights and applicability to longitudinal pediatric lung development. Understanding the molecular and physiological nuances of pulmonary development has important clinical relevance, …


Complete Genome Sequences Of Mycobacterium Smegmatis Phages Nihilnomen And Carlyle, Isolated In Las Vegas, Nevada, Alicia Salisbury, Ryan Doss, Astha Mehta, Khadija Bhatti, Ciera Dapra, Audrey Huntsinger, Stephanie Rodriguez, Scott Yacek, Rylee Sandberg, Alexis Gildore, Jacinda Knudtson, Frances Tibayan, Tiannah Ohta, Neha Zafar, Guadalupe Mercado, Alan Le, Natalie Mekhaeel, Justin Willer, Edith Rodrich-Zuniga, Merissa Mcfarland, Kurt Regner, Christy Strong, Phillippos K. Tsourkas Sep 2019

Complete Genome Sequences Of Mycobacterium Smegmatis Phages Nihilnomen And Carlyle, Isolated In Las Vegas, Nevada, Alicia Salisbury, Ryan Doss, Astha Mehta, Khadija Bhatti, Ciera Dapra, Audrey Huntsinger, Stephanie Rodriguez, Scott Yacek, Rylee Sandberg, Alexis Gildore, Jacinda Knudtson, Frances Tibayan, Tiannah Ohta, Neha Zafar, Guadalupe Mercado, Alan Le, Natalie Mekhaeel, Justin Willer, Edith Rodrich-Zuniga, Merissa Mcfarland, Kurt Regner, Christy Strong, Phillippos K. Tsourkas

Life Sciences Faculty Research

We present the complete genomes of the Mycobacterium smegmatis phages Carlyle and NihilNomen, isolated from soil in Las Vegas, Nevada. The phages were isolated and annotated by undergraduate students enrolled in the Phage Discovery course offered by the School of Life Sciences at the University of Nevada Las Vegas.


Chromatin Digestion By The Chemotherapeutic Agent Bleomycin Produces Nucleosome And Transcription Factor Footprinting Patterns Similar To Micrococcal Nuclease, Joshua Michael Stolz Sep 2019

Chromatin Digestion By The Chemotherapeutic Agent Bleomycin Produces Nucleosome And Transcription Factor Footprinting Patterns Similar To Micrococcal Nuclease, Joshua Michael Stolz

Theses and Dissertations

Bleomycin (BLM), a glycopeptide antibiotic commonly used in chemotherapeutic treatments, has been shown to produce single and double stranded DNA breaks. Subsequent analysis of DNA fragmentation patterns has demonstrated preferential digestion of chromatin in the TSS of active genes and the ability to produce nucleosome-sized fragments within intact chromatin. Nucleosome positioning plays a critical role in the regulation of gene activation. Currently, micrococcal nuclease (MNase) is used as the standard for mapping the position of nucleosomes in the genome. In order to identify whether BLM can be used as an effective nucleosome-mapping agent, BLM was used to digest chromatin in …


The Role Of Chromatin State Transitions In Modulating Early Phosphate-Deficiency Response Genes In Plants, Maryam Foroozani Sep 2019

The Role Of Chromatin State Transitions In Modulating Early Phosphate-Deficiency Response Genes In Plants, Maryam Foroozani

LSU Doctoral Dissertations

Phosphorus (P) is an essential plant macronutrient vital to fundamental metabolic processes. Plant-available P is low in most soils, making it a frequent limiter of growth. Declining P reserves for fertilizer production exasperates this agricultural challenge. Plants modulate complex responses to fluctuating P levels via global transcriptional regulatory networks. Although chromatin structure plays a substantial role in controlling gene expression, the chromatin-level mechanisms involved in regulating P homeostasis have not been determined.

In this work, I used chromatin immunoprecipitation (ChIP) combined with next-generation DNA sequencing (ChIP-seq) to map the distribution of H3K4me3 in rice (Oryza sativa L.) during both …


9th Annual Postdoctoral Science Symposium, University Of Texas Md Anderson Cancer Center Postdoctoral Association Sep 2019

9th Annual Postdoctoral Science Symposium, University Of Texas Md Anderson Cancer Center Postdoctoral Association

Annual Postdoctoral Science Symposium Abstracts

The mission of the Annual Postdoctoral Science Symposium (APSS) is to provide a platform for talented postdoctoral fellows throughout the Texas Medical Center to present their work to a wider audience. The MD Anderson Postdoctoral Association convened its inaugural Annual Postdoctoral Science Symposium (APSS) on August 4, 2011.

The APSS provides a professional venue for postdoctoral scientists to develop, clarify, and refine their research as a result of formal reviews and critiques of faculty and other postdoctoral scientists. Additionally, attendees discuss current research on a broad range of subjects while promoting academic interactions and enrichment and developing new collaborations.


Characterization Of The Microbiome And Bioluminescent Symbionts Across Life Stages Of Ceratioid Anglerfishes Of The Gulf Of Mexico, Lindsay L. Freed, Cole Easson, Lydia Baker, D. Fenolio, Tracey Sutton, Yasmin Khan, Patricia Blackwelder, Tory Hendry, Jose Lopez Sep 2019

Characterization Of The Microbiome And Bioluminescent Symbionts Across Life Stages Of Ceratioid Anglerfishes Of The Gulf Of Mexico, Lindsay L. Freed, Cole Easson, Lydia Baker, D. Fenolio, Tracey Sutton, Yasmin Khan, Patricia Blackwelder, Tory Hendry, Jose Lopez

Biology Faculty Articles

The interdependence of diverse organisms through symbiosis reaches even the deepest parts of the oceans. As part of the DEEPEND project (deependconsortium.org) research on deep Gulf of Mexico biodiversity, we profiled the bacterial communities (‘microbiomes’) and luminous symbionts of 36 specimens of adult and larval deep-sea anglerfishes of the suborder Ceratioidei using 16S rDNA. Transmission Electron Microscopy was used to characterize the location of symbionts in adult light organs (esca). Whole larval microbiomes, and adult skin and gut microbiomes, were dominated by bacteria in the genera Moritella and Pseudoalteromonas genera. 16S rDNA sequencing results from adult fishes corroborate …


Use Of Probiotic Bacterial Strains And Cell Extracts To Inhibit Acidosis And Liver Abscesses In Cattle, Samodha Charaka Fernand Sep 2019

Use Of Probiotic Bacterial Strains And Cell Extracts To Inhibit Acidosis And Liver Abscesses In Cattle, Samodha Charaka Fernand

Department of Animal Science: Faculty Publications

Disclosed are methods of using probiotic bacterial strains Aneurinibacillus migulanus, Aneurinibacillus aneurinilyti cus and / or extracts thereof for inhibiting the growth of Streptococcus bovis , Fusobacterium necrophorum , and Acranobacterium ( Actinomyces ) pyogenes . These bacterial strains and / or their extracts can be used in cattle to treat acidosis and / or liver abscesses , as well as inhibit foot rot, among other infections and conditions caused by Strepto coccus bovis and / or Fusobacterium necrophorum and / or Acranobacterium (Actinomyces) pyogenes. Compositions for use in these methods are also provided.


Nitric Oxide Is Involved In Heavy Ion-Induced Non-Targeted Effects In Human Fibroblasts, Megumi Hada, Premkumar B. Saganti, Francis A. Cucinotta Sep 2019

Nitric Oxide Is Involved In Heavy Ion-Induced Non-Targeted Effects In Human Fibroblasts, Megumi Hada, Premkumar B. Saganti, Francis A. Cucinotta

Health Physics and Diagnostic Sciences Faculty Research

Previously, we investigated the dose response for chromosomal aberration (CA) for exposures corresponding to less than one particle traversal per cell nucleus by high energy and charge (HZE) particles, and showed that the dose responses for simple exchanges for human fibroblast irradiated under confluent culture conditions were best fit by non-linear models motivated by a non-targeted effect (NTE). Our results suggested that the simple exchanges in normal human fibroblasts have an important NTE contribution at low particle fluence. Nitric oxide (NO) has been reported as a candidate for intercellular signaling for NTE in many studies. In order to estimate the …


Sensitive Detection And Analysis Of Neoantigen-Specific T Cell Populations From Tumors And Blood., Songming Peng, Jesse M Zaretsky, Alphonsus H C Ng, William Chour, Michael T Bethune, Jongchan Choi, Alice Hsu, Elizabeth Holman, Xiaozhe Ding, Katherine Guo, Jungwoo Kim, Alexander M Xu, John E Heath, Won Jun Noh, Jing Zhou, Yapeng Su, Yue Lu, Jami Mclaughlin, Donghui Cheng, Owen N Witte, David Baltimore, Antoni Ribas, James R Heath Sep 2019

Sensitive Detection And Analysis Of Neoantigen-Specific T Cell Populations From Tumors And Blood., Songming Peng, Jesse M Zaretsky, Alphonsus H C Ng, William Chour, Michael T Bethune, Jongchan Choi, Alice Hsu, Elizabeth Holman, Xiaozhe Ding, Katherine Guo, Jungwoo Kim, Alexander M Xu, John E Heath, Won Jun Noh, Jing Zhou, Yapeng Su, Yue Lu, Jami Mclaughlin, Donghui Cheng, Owen N Witte, David Baltimore, Antoni Ribas, James R Heath

Articles, Abstracts, and Reports

Neoantigen-specific T cells are increasingly viewed as important immunotherapy effectors, but physically isolating these rare cell populations is challenging. Here, we describe a sensitive method for the enumeration and isolation of neoantigen-specific CD8+ T cells from small samples of patient tumor or blood. The method relies on magnetic nanoparticles that present neoantigen-loaded major histocompatibility complex (MHC) tetramers at high avidity by barcoded DNA linkers. The magnetic particles provide a convenient handle to isolate the desired cell populations, and the barcoded DNA enables multiplexed analysis. The method exhibits superior recovery of antigen-specific T cell populations relative to literature approaches. We applied …


Transcriptome Analyses Of Tumor-Adjacent Somatic Tissues Reveal Genes Co-Expressed With Transposable Elements, Micky Chung, G. M. Jonaid, Sophia Quinton, Austin Ross, Corinne E. Sexton, Adrian Alberto, Cody Clymer, Daphnie Churchill, Omar Navarro Leija, Mira V. Han Sep 2019

Transcriptome Analyses Of Tumor-Adjacent Somatic Tissues Reveal Genes Co-Expressed With Transposable Elements, Micky Chung, G. M. Jonaid, Sophia Quinton, Austin Ross, Corinne E. Sexton, Adrian Alberto, Cody Clymer, Daphnie Churchill, Omar Navarro Leija, Mira V. Han

Life Sciences Faculty Research

Background: Despite the long-held assumption that transposons are normally only expressed in the germ-line, recent evidence shows that transcripts of transposable element (TE) sequences are frequently found in the somatic cells. However, the extent of variation in TE transcript levels across different tissues and different individuals are unknown, and the co-expression between TEs and host gene mRNAs have not been examined. Results: Here we report the variation in TE derived transcript levels across tissues and between individuals observed in the non-tumorous tissues collected for The Cancer Genome Atlas. We found core TE co-expression modules consisting mainly of transposons, showing correlated …


A Frameshift Variant In The Chst9 Gene Identified By Family-Based Whole Genome Sequencing Is Associated With Schizophrenia In Chinese Population, Jingchun Chen, Jain-Shing Wu, Travis Mize, Marvi Moreno, Mahtab Hamid, Francisco Servin, Bita Bashy, Zhongming Zhao, Peilin Jia, Ming T. Tsuang, Kenneth S. Kendler, Momiao Xiong, Xiangning Chen Sep 2019

A Frameshift Variant In The Chst9 Gene Identified By Family-Based Whole Genome Sequencing Is Associated With Schizophrenia In Chinese Population, Jingchun Chen, Jain-Shing Wu, Travis Mize, Marvi Moreno, Mahtab Hamid, Francisco Servin, Bita Bashy, Zhongming Zhao, Peilin Jia, Ming T. Tsuang, Kenneth S. Kendler, Momiao Xiong, Xiangning Chen

School of Medicine Faculty Research

Recent studies imply that rare variants contribute to the risk of schizophrenia, however, the exact variants or genes responsible for this condition are largely unknown. In this study, we conducted whole genome sequencing (WGS) of 20 Chinese families. Each family consisted of at least two affected siblings diagnosed with schizophrenia and at least one unaffected sibling. We examined functional variants that were found in affected sibling(s) but not in unaffected sibling(s) within a family. Matching this criterion, a frameshift heterozygous deletion of CA (–/CA) at chromosome 18:24722722, also referred to as rs752084147, in the Carbohydrate Sulfotransferase 9 (CHST9) gene, was …


High-Coverage Genomes To Elucidate The Evolution Of Penguins., Hailin Pan, Hailin Pan, Theresa Cole, Theresa Cole, Xupeng Bi, Miaoquan Fang, Chengran Zhou, Zhengtao Yang, Daniel Ksepka, Tom Hart, Juan Bouzat, Lisa Argilla, Mads Bertelsen, Mads Bertelsen, P. Boersma, Charles Bost, Yves Cherel, Peter Dann, Steven Fiddaman, Pauline Howard, Kim Labuschagne, Thomas Mattern, Gary Miller, Gary Miller, Patricia Parker, Richard Phillips, Petra Quillfeldt, Peter Ryan, Helen Taylor, David Thompson, Melanie Young, Martin Ellegaard, M. Gilbert, M. Gilbert, Mikkel Sinding, George Pacheco, Lara Shepherd, Alan Tennyson, Stefanie Grosser, Stefanie Grosser, Emily Kay, Emily Kay, Lisa Nupen, Ursula Ellenberg, Ursula Ellenberg, David Houston, Andrew Reeve, Andrew Reeve, Kathryn Johnson Sep 2019

High-Coverage Genomes To Elucidate The Evolution Of Penguins., Hailin Pan, Hailin Pan, Theresa Cole, Theresa Cole, Xupeng Bi, Miaoquan Fang, Chengran Zhou, Zhengtao Yang, Daniel Ksepka, Tom Hart, Juan Bouzat, Lisa Argilla, Mads Bertelsen, Mads Bertelsen, P. Boersma, Charles Bost, Yves Cherel, Peter Dann, Steven Fiddaman, Pauline Howard, Kim Labuschagne, Thomas Mattern, Gary Miller, Gary Miller, Patricia Parker, Richard Phillips, Petra Quillfeldt, Peter Ryan, Helen Taylor, David Thompson, Melanie Young, Martin Ellegaard, M. Gilbert, M. Gilbert, Mikkel Sinding, George Pacheco, Lara Shepherd, Alan Tennyson, Stefanie Grosser, Stefanie Grosser, Emily Kay, Emily Kay, Lisa Nupen, Ursula Ellenberg, Ursula Ellenberg, David Houston, Andrew Reeve, Andrew Reeve, Kathryn Johnson

Biology Department Faculty Works

BackgroundPenguins (Sphenisciformes) are a remarkable order of flightless wing-propelled diving seabirds distributed widely across the southern hemisphere. They share a volant common ancestor with Procellariiformes close to the Cretaceous-Paleogene boundary (66 million years ago) and subsequently lost the ability to fly but enhanced their diving capabilities. With ∼20 species among 6 genera, penguins range from the tropical Galápagos Islands to the oceanic temperate forests of New Zealand, the rocky coastlines of the sub-Antarctic islands, and the sea ice around Antarctica. To inhabit such diverse and extreme environments, penguins evolved many physiological and morphological adaptations. However, they are also highly sensitive …


"23 And Plea": Limiting Police Use Of Genealogy Sites After Carpenter V. United States, Antony Barone Kolenc Sep 2019

"23 And Plea": Limiting Police Use Of Genealogy Sites After Carpenter V. United States, Antony Barone Kolenc

West Virginia Law Review

No abstract provided.


Pleasantview Hills Aspen Stand Diversity Project: Environmental Assessment, Pocatello Field Office Sep 2019

Pleasantview Hills Aspen Stand Diversity Project: Environmental Assessment, Pocatello Field Office

Aspen Bibliography

The Bureau of Land Management (BLM) Pocatello Field Office (PFO) has prepared this Environmental Assessment (EA) to analyze the environmental impacts of implementing treatments on aspen stands in the Pleasantview Hills area. This EA discloses the direct, indirect, and cumulative environmental effects that would result from implementation of this proposal as required by the National Environmental Policy Act (NEPA) of 1969. This EA will determine whether to prepare an Environmental Impact Statement (EIS) or a Finding of No Significant Impact (FONSI) based on environmental impact context and intensity, thereby informing agency decision making. Guidance for EA organization is determined by …


Rare Degs1 Variant Significantly Alters De Novo Ceramide Synthesis Pathway, Nicholas B. Blackburn, Juan M. Peralta, Satish Kumar, Ana C. Leandro, Marcio Almeida, Michael C. Mahaney, Thomas D. Dyer, Laura Almasy, John L. Vandeberg, Sarah Williams-Blangero, Ravindranath Duggirala, John Blangero, Joanne E. Curran Sep 2019

Rare Degs1 Variant Significantly Alters De Novo Ceramide Synthesis Pathway, Nicholas B. Blackburn, Juan M. Peralta, Satish Kumar, Ana C. Leandro, Marcio Almeida, Michael C. Mahaney, Thomas D. Dyer, Laura Almasy, John L. Vandeberg, Sarah Williams-Blangero, Ravindranath Duggirala, John Blangero, Joanne E. Curran

School of Medicine Publications

The de novo ceramide synthesis pathway is essential to human biology and health but genetic influences remain unexplored. The core function of this pathway is the generation of biologically active ceramide from its precursor, dihydroceramide. Dihydroceramides have diverse, often protective, biological roles; conversely, increased ceramide levels are biomarkers of complex disease. To explore the genetics of the ceramide synthesis pathway, we searched for deleterious nonsynonymous variants in the genomes of 1,020 Mexican Americans from extended pedigrees. We identified a Hispanic ancestry−specific rare functional variant, L175Q, in DEGS1, a key enzyme in the pathway that converts dihydroceramide to ceramide. This amino …


Towards A Mathematical Model Of Motility Using Dictyostelium Discoideum: Proteins And Geometric Features That Regulate Bleb-Based Motility, Zully Santiago Sep 2019

Towards A Mathematical Model Of Motility Using Dictyostelium Discoideum: Proteins And Geometric Features That Regulate Bleb-Based Motility, Zully Santiago

Dissertations, Theses, and Capstone Projects

A variety of biological functions depend on actin organization. The organization of actin is tightly regulated by a plethora of extracellular and intracellular signaling, scaffolding, and actin-binding proteins. Dysfunctions in this regulation lead to immune diseases, increased susceptibility to pathogens, neurodegenerative diseases, developmental disorders, and cancer metastasis. A variety of actin-dependent processes, including cell motility, are regulated by several proteins of interest: Paxillin, a scaffolding protein; WASP, an actin nucleating protein; SCAR/WAVE, another WASP family actin nucleating protein; Talin, a cortex-to-membrane binding protein; Myosin II, an F-actin contracting motor protein; and Protein Kinase C, a protein kinase. D. discoideum cells …


Eugenics In The 21st Century, Jessica Linn Chin Sep 2019

Eugenics In The 21st Century, Jessica Linn Chin

Dissertations, Theses, and Capstone Projects

Eugenics is the science of enhancing the human population through the management of breeding and hereditary traits. This thesis explores the history of eugenics and shows how eugenic practices continue in the 21st century with advancements in technology and positive eugenic goals that can result in adverse effects on the human body and society. When Sir Francis Galton coined the term eugenics in 1883, he intended to improve British society with the use of positive eugenics. Galton used positive eugenics to encourage people with good mental and physical qualities to produce more children. He avoided negative eugenics, which involved …


Geographic Population Structure And Taxonomic Identity Of Rhinichthys Osculus, The Santa Ana Speckled Dace, As Elucidated By Nuclear Dna Intron Sequencing, Liane Raynette Greaver Sep 2019

Geographic Population Structure And Taxonomic Identity Of Rhinichthys Osculus, The Santa Ana Speckled Dace, As Elucidated By Nuclear Dna Intron Sequencing, Liane Raynette Greaver

Electronic Theses, Projects, and Dissertations

Rhinichthys osculus (Cyprinidae), the speckled dace, is the most widely distributed freshwater fish in the western United States. The southern California populations of R. osculus are identified as the Santa Ana speckled dace (SASD), though the SASD has not yet been formally recognized as a distinct taxon. Current mtDNA analysis performed in the Metcalf Lab has shown a reciprocally monophyletic relationship among three California regions; southern, central coast, and Owens Valley. Similarly, microsatellite genotyping has shown significant levels of geographic population structure. The purpose of this study was to provide nuclear DNA sequence data to determine the taxonomic status of …


Non-Enzymatic Roles Of Human Rad51 At Stalled Replication Forks, Jennifer M. Mason, Yuen-Ling Chan, Ralph W. Weichselbaum, Douglas K. Bishop Sep 2019

Non-Enzymatic Roles Of Human Rad51 At Stalled Replication Forks, Jennifer M. Mason, Yuen-Ling Chan, Ralph W. Weichselbaum, Douglas K. Bishop

Publications

The central recombination enzyme RAD51 has been implicated in replication fork processing and restart in response to replication stress. Here, we use a separation-of-function allele of RAD51 that retains DNA binding, but not D-loop activity, to reveal mechanistic aspects of RAD51’s roles in the response to replication stress. Here, we find that cells lacking RAD51’s enzymatic activity protect replication forks from MRE11-dependent degradation, as expected from previous studies. Unexpectedly, we find that RAD51’s strand exchange activity is not required to convert stalled forks to a form that can be degraded by DNA2. Such conversion was shown previously to require replication …


Unraveling The Functional Role Of The Orphan Solute Carrier, Slc22a24 In The Transport Of Steroid Conjugates Through Metabolomic And Genome-Wide Association Studies, Sook Wah Yee, Adrian Stecula, Huan-Chieh Chien, Ling Zou, Elena V Feofanova, Marjolein Van Borselen, Kit Wun Kathy Cheung, Noha A Yousri, Karsten Suhre, Jason M Kinchen, Eric Boerwinkle, Roshanak Irannejad, Bing Yu, Kathleen M Giacomini Sep 2019

Unraveling The Functional Role Of The Orphan Solute Carrier, Slc22a24 In The Transport Of Steroid Conjugates Through Metabolomic And Genome-Wide Association Studies, Sook Wah Yee, Adrian Stecula, Huan-Chieh Chien, Ling Zou, Elena V Feofanova, Marjolein Van Borselen, Kit Wun Kathy Cheung, Noha A Yousri, Karsten Suhre, Jason M Kinchen, Eric Boerwinkle, Roshanak Irannejad, Bing Yu, Kathleen M Giacomini

Faculty, Staff and Student Publications

Variation in steroid hormone levels has wide implications for health and disease. The genes encoding the proteins involved in steroid disposition represent key determinants of interindividual variation in steroid levels and ultimately, their effects. Beginning with metabolomic data from genome-wide association studies (GWAS), we observed that genetic variants in the orphan transporter, SLC22A24 were significantly associated with levels of androsterone glucuronide and etiocholanolone glucuronide (sentinel SNPs p-value


Isolation Of Caldatribacterium (Op9) And Investigation Of Its Potential Interactions With A Novel, Co-Cultivated Thermodesulfobacterium Species, Toshio Alvarado Sep 2019

Isolation Of Caldatribacterium (Op9) And Investigation Of Its Potential Interactions With A Novel, Co-Cultivated Thermodesulfobacterium Species, Toshio Alvarado

Electronic Theses, Projects, and Dissertations

Atribacteria (OP9), candidate phylum with no representatives in pure culture, is found in various anaerobic environments worldwide. “Caldatribacterium”, a lineage within Atribacteria that is predicted to be a strictly anaerobic sugar fermenter based on cultivation-independent genomic analyses, is currently being maintained in lab enrichment cultures with fucose as its sole growth substrate. Metagenomics and 16S rRNA gene tag sequencing indicated that the fucose culture was a co-culture of “Caldatribacterium” and an uncultivated member of the genus Thermodesulfobacterium. Due to failed attempts to isolate “Caldatribacterium” by dilution-to-extinction and plating, it was hypothesized that “Caldatribacterium” is dependent in some way on the …


Using Single-Cell Sorting, Fish And 13c-Labeling To Cultivate And Assess Carbon Substrate Utilization Of ‘Aigarchaeota’ And Other Novel Thermophiles, Damon Kurtis Mosier Sep 2019

Using Single-Cell Sorting, Fish And 13c-Labeling To Cultivate And Assess Carbon Substrate Utilization Of ‘Aigarchaeota’ And Other Novel Thermophiles, Damon Kurtis Mosier

Electronic Theses, Projects, and Dissertations

‘Aigarchaeota’, a deeply branching lineage in the domain Archaea with no cultivated representatives, includes both thermophilic and hyperthermophilic microorganisms that reside in terrestrial and marine geothermal environments. The ‘Aigarchaeota’ consists of at least nine proposed genus-level groups that have been confirmed via 16S rRNA sequencing, with ‘Aigarchaeota’ Group 1 (AigG1) being the focus of this study. Based on cultivation-independent genomic data available from several AigG1 members in Great Boiling Spring (GBS), NV, and Yellowstone National Park, 22 different types of growth media were designed and tested for their ability to support growth of AigG1. One of these cultures, G1-10, was …


Chitosan As An Immune Modulator: Therapeutic Potential In Cerebral Amyloidopathies, Tanya Larissa Cupino Sep 2019

Chitosan As An Immune Modulator: Therapeutic Potential In Cerebral Amyloidopathies, Tanya Larissa Cupino

Loma Linda University Electronic Theses, Dissertations & Projects

Alzheimer’s disease (AD) and cerebral amyloid angiopathy (CAA) are neurodegenerative diseases that are pathologically defined by accumulations of amyloid beta (Aβ) in the brain parenchyma and vascular walls, respectively. CAA comorbidity occurs in more than half of advanced AD cases. Aβ can activate complement, an enzymatic cascade that terminates in a cytolytic pore called membrane attack complex (MAC). Protectin (CD59) is a GPI-anchored glycoprotein that physically interrupts formation of MAC. At autopsy, individuals with AD and CAA have high levels of MAC and normal to low levels of CD59 in the tunica media of affected blood vessels. We proposed the …