Genetics and Genomics Commons^™

Centers For Mendelian Genomics: A Decade Of Facilitating Gene Discovery, Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly F Doheny, Colleen P Davis, Monkol Lek, Christopher Wellington, Shalini N Jhangiani, Mark Gerstein, Richard A Gibbs, Richard P Lifton, Daniel G Macarthur, Tara C Matise, James R Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Shrikant Mane, Deborah A Nickerson, Heidi L Rehm, Anne O'Donnell-Luria

Faculty, Staff and Student Publications

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.

METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.

RESULTS: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships …

New Insights Into The Genetic Etiology Of Alzheimer's Disease And Related Dementias, Céline Bellenguez, Fahri Küçükali, Iris E Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C Naj, Rafael Campos-Martin, Benjamin Grenier-Boley, Victor Andrade, Peter A Holmans, Anne Boland, Vincent Damotte, Sven J Van Der Lee, Marcos R Costa, Teemu Kuulasmaa, Qiong Yang, Itziar De Rojas, Joshua C Bis, Amber Yaqub, Ivana Prokic, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo Garcia-Gonzalez, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Victoria Álvarez, Nicola J Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Mercè Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J Brookes, Luis Ignacio Brusco, Dolores Buiza-Rueda, Katharina Bûrger, Vanessa Burholt, William S Bush, Miguel Calero, Laura B Cantwell, Geneviève Chene, Jaeyoon Chung, Michael L Cuccaro, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Hung-Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A H R Claassen, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Emanuele Costantini, Carlo Custodero, Delphine Daian, Maria Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean-François Dartigues, Peter Paul De Deyn, Katia De Paiva Lopes, Lot D De Witte, Stéphanie Debette, Jürgen Deckert, Teodoro Del Ser, Nicola Denning, Anita Destefano, Martin Dichgans, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Carole Dufouil, Gudny Eiriksdottir, Sebastiaan Engelborghs, Valentina Escott-Price, Ana Espinosa, Michael Ewers, Kelley M Faber, Tagliavini Fabrizio, Sune Fallgaard Nielsen, David W Fardo, Lucia Farotti, Chiara Fenoglio, Marta Fernández-Fuertes, Raffaele Ferrari, Catarina B Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Bernard Fongang, Myriam Fornage, Juan Fortea, Tatiana M Foroud, Silvia Fostinelli, Nick C Fox, Emlio Franco-Macías, María J Bullido, Ana Frank-García, Lutz Froelich, Brian Fulton-Howard, Daniela Galimberti, Jose Maria García-Alberca, Pablo García-González, Sebastian Garcia-Madrona, Guillermo Garcia-Ribas, Roberta Ghidoni, Ina Giegling, Giaccone Giorgio, Alison M Goate, Oliver Goldhardt, Duber Gomez-Fonseca, Antonio González-Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Michelle Grunin, Vilmundur Gudnason, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Jonathan L Haines, Kara L Hamilton-Nelson, Harald Hampel, Olivier Hanon, John Hardy, Annette M Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael T Heneka, Isabel Hernández, Martin J Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Jack Humphrey, Geert Jan Biessels, Xueqiu Jian, Charlotte Johansson, Gyungah R Jun, Yuriko Kastumata, John Kauwe, Patrick G Kehoe, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H Kosmidis, Walter A Kukull, Pavel P Kuksa, Brian W Kunkle, Amanda B Kuzma, Carmen Lage, Erika J Laukka, Lenore Launer, Alessandra Lauria, Chien-Yueh Lee, Jenni Lehtisalo, Ondrej Lerch, Alberto Lleó, William Longstreth, Oscar Lopez, Adolfo Lopez De Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Kathryn L Lunetta, Yiyi Ma, Juan Macías, Catherine A Macleod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Rachel Marshall, Eden R Martin, Angel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Shima Mehrabian, Silvia Mendoza, Manuel Menéndez-González, Pablo Mir, Susanne Moebus, Merel Mol, Laura Molina-Porcel, Laura Montrreal, Laura Morelli, Fermin Moreno, Kevin Morgan, Thomas Mosley, Markus M Nöthen, Carolina Muchnik, Shubhabrata Mukherjee, Benedetta Nacmias, Tiia Ngandu, Gael Nicolas, Børge G Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Caffarra Paolo, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Gina Peloso, Alba Pérez-Cordón, Jordi Pérez-Tur, Pierre Pericard, Oliver Peters, Yolande A L Pijnenburg, Juan A Pineda, Gerard Piñol-Ripoll, Claudia Pisanu, Thomas Polak, Julius Popp, Danielle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Jesper Qvist Thomassen, Alberto Rábano, Innocenzo Rainero, Farid Rajabli, Inez Ramakers, Luis M Real, Marcel J T Reinders, Christiane Reitz, Dolly Reyes-Dumeyer, Perry Ridge, Steffi Riedel-Heller, Peter Riederer, Natalia Roberto, Eloy Rodriguez-Rodriguez, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, Jose Luis Royo, Elisa Rubino, Dan Rujescu, María Eugenia Sáez, Paraskevi Sakka, Ingvild Saltvedt, Ángela Sanabria, María Bernal Sánchez-Arjona, Florentino Sanchez-Garcia, Pascual Sánchez Juan, Raquel Sánchez-Valle, Sigrid B Sando, Chloé Sarnowski, Claudia L Satizabal, Michela Scamosci, Nikolaos Scarmeas, Elio Scarpini, Philip Scheltens, Norbert Scherbaum, Martin Scherer, Matthias Schmid, Anja Schneider, Jonathan M Schott, Geir Selbæk, Davide Seripa, Manuel Serrano, Jin Sha, Alexey A Shadrin, Olivia Skrobot, Susan Slifer, Gijsje J L Snijders, Hilkka Soininen, Vincenzo Solfrizzi, Alina Solomon, Yeunjoo Song, Sandro Sorbi, Oscar Sotolongo-Grau, Gianfranco Spalletta, Annika Spottke, Alessio Squassina, Eystein Stordal, Juan Pablo Tartan, Lluís Tárraga, Niccolo Tesí, Anbupalam Thalamuthu, Tegos Thomas, Giuseppe Tosto, Latchezar Traykov, Lucio Tremolizzo, Anne Tybjærg-Hansen, Andre Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Otto Valladares, Christine Van Broeckhoven, Jeffery Vance, Badri N Vardarajan, Aad Van Der Lugt, Jasper Van Dongen, Jeroen Van Rooij, John Van Swieten, Rik Vandenberghe, Frans Verhey, Jean-Sébastien Vidal, Jonathan Vogelgsang, Martin Vyhnalek, Michael Wagner, David Wallon, Li-San Wang, Ruiqi Wang, Leonie Weinhold, Jens Wiltfang, Gill Windle, Bob Woods, Mary Yannakoulia, Habil Zare, Yi Zhao, Xiaoling Zhang, Congcong Zhu, Miren Zulaica, Lindsay A Farrer, Bruce M Psaty, Mohsen Ghanbari, Towfique Raj, Perminder Sachdev, Karen Mather, Frank Jessen, M Arfan Ikram, Alexandre De Mendonça, Jakub Hort, Magda Tsolaki, Margaret A Pericak-Vance, Philippe Amouyel, Julie Williams, Ruth Frikke-Schmidt, Jordi Clarimon, Jean-François Deleuze, Giacomina Rossi, Sudha Seshadri, Ole A Andreassen, Martin Ingelsson, Mikko Hiltunen, Kristel Sleegers, Gerard D Schellenberg, Cornelia M Van Duijn, Rebecca Sims, Wiesje M Van Der Flier, Agustín Ruiz, Alfredo Ramirez, Jean-Charles Lambert

Faculty, Staff and Student Publications

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly …

Origin And Epigenetic Regulation Of Cutaneous T Cell Lymphoma, Carly M. Harro

USF Tampa Graduate Theses and Dissertations

The pathogenesis of Cutaneous T cell lymphoma (CTCL) remains unclear. Using conditional knockout mice, we found that ablation of the genomic organizer Special AT-rich sequence-binding protein-1 (Satb1) caused malignant transformation of mature, skin-homing, Notch-activated CD4+ and CD8+ T cells into progressively fatal lymphoma. Mechanistically, Satb1 restrained Stat5 phosphorylation and the expression of skin-homing chemokine receptors in mature T cells. H3K27 and H3K9 trimethylation occluded the SATB1 promoter in Sézary cells, while inhibition of SUV39H1/2 methyltransferases (unlike EZH2 inhibition), restored protective SATB1 expression and selectively abrogated the growth of primary Sézary cells more effectively than romidepsin. Additionally, using single-cell RNA/TCR sequencing …

Emulating Succession Of Boreal Mixedwood Forests In Alberta Using Understory Protection Harvesting, Ivan Bjelnanovic, Philip G. Comeau, Sharon Meredith, Brian Roth

Aspen Bibliography

Understory protection harvesting is a form of partial cutting that can be used in aspen (Populus tremuloides Michx.)-dominated stands that have understories of white spruce (Picea glauca (Moench) Voss). This practice involves removing 75% to 85% of the merchantable aspen while minimizing damage to the advance spruce regeneration, in addition to leaving 15% to 25% of the aspen standing to reduce potential windthrow of the spruce understory. In this paper, we summarize results from 18 stands measured 10 to 12 years after understory protection harvest. Diameter growth of spruce increased during the first five years after harvest while …

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support mechanisms.

Meta-Analysis Of Two Rnaseq Datasets To Determine Diagnostic Biomarkers And Drug Target Candidates For Periodontitis, Carlos Moreno

Annual Research Symposium

No abstract provided.

Rna Broccoli Aptamer To Track Transcription Rates In Vitro, Sarah Hodson

Annual Research Symposium

No abstract provided.

Response To A Water Bolus In Long Term Oral Contraceptive Users, Whitley C. Atkins, Brendon P. Mcdermott, Abigail T. Colburn, Stavros A. Kavouras

Health, Human Performance and Recreation Faculty Publications and Presentations

The purpose of our study was to determine the responses to an acute water bolus in long-term oral contraception (OCP) users. Seventeen female volunteers (27 ± 5 y, 64.1 ± 13.7 kg, 39.6 ± 5.9 kg/LBM) provided consent and enrolled in our study. All were long-term OCP users and participated in two trials, one during the active pill (High Hormone, HH) dose of their prescribed OCP and one during the sham pill (Low Hormone, LH) dose. Participants reported to the laboratory euhydrated, were fed breakfast, remained seated for 60 min and were provided a bolus of room temperature water in …

Evaluating And Improving A Novel Toolkit For Implementation And Optimization Of Lynch Syndrome Universal Tumor Screening, Tara M. Wolfinger

USF Tampa Graduate Theses and Dissertations

Individuals with Lynch syndrome (LS) have a hereditary predisposition to colorectal cancer (CRC), endometrial cancer (EC), and several additional cancer types. Universal tumor screening (UTS) is a systematic approach that increases identification of LS so affected individuals can benefit from targeted therapies and risk-reduction strategies to decrease cancer- related morbidity and mortality. Despite the known benefits of UTS, the practice is widely underutilized, likely due to the complexity of implementation and optimization. We developed a novel evidence-based toolkit to help institutions implement and optimize UTS programs. As part of an iterative evaluation process, we obtained feedback on the toolkit through …

The Large And Small Of It: The Microbiome And Metagenomics, Austin Hopkins, Elaina Gollmar, Jessica Fernandez, Shawn Wolf, Austin Hilverding, Andrew M. Roecker

Pharmacy and Wellness Review

Metagenomics, the analysis of the microbial genome, permits scientists to understand the influences of external sources including diet, metabolism and antibiotics on the human microbiome. Research has revealed the possibility of a core symbiosis between humans and bacteria. The main role of the human microbiome is to aid in digestion, but identified ancillary roles include immunologic homeostasis and infection prevention. Quantifying the composition and variability of the microbiome will help lead to future treatments or preventive strategies against unhealthy change. A variety of methods may be used to define the microbiome, and 16S amplicon sequencing is primarily utilized today. Probiotics …

Inaccuracies In Patient Self-Report Of Genetic Testing Results For Hereditary Cancer Risks Could Impact Risk-Management Practices, Brittany Faye Sears

USF Tampa Graduate Theses and Dissertations

Pathogenic variants (PV) or likely pathogenic variants (LPV) in a cancer risk gene increase lifetime risks of developing cancer. National guidelines provide evidence-based recommendations on cancer risk management (CRM) strategies tailored to the cancer risks associated with PV/LPV in different genes. Emotional responses after learning of a PV/LPV have been studied as predictors of patient adherence to CRM, but less attention has been given to whether patients remember their actual genetic test results and the impact this may have on subsequent adherence to CRM. We surveyed a group of 114 participants registered with the Inherited Cancer Registry (ICARE), all of …

Assessing Reported Use Of Clinical Genetic Counseling Skills, Nicole M. Wright

USF Tampa Graduate Theses and Dissertations

Genetic Counseling (GC) is striving to become a more evidence-based field, but the absence of a clearly defined taxonomy of clinical skills is impeding efforts to systematically study and compare GC processes. Several frameworks such as the Reciprocal Engagement Model (REM) and FOCUS-GC have outlined strategies and behaviors used to meet patient needs, but neither include comprehensive descriptions of existing skills or delineate which are actually being used most commonly in clinical practice. The purpose of this study was to compile a large list of demonstrable genetic counseling skills and determine how often clinical genetic counselors (GCs) report using them …

Genetic Variation Of The Mitochondrial Dna Control Region Across Plains Bison Herds In Usa And Canada, Gaimi Davies, Blake Mccann, Lee Jones, Stefano Liccioli, Maria Cecilia Penedo, Igor V. Ovtchinnikov

Biology Faculty Publications

Once numbering in the tens of millions, bison (Bison bison) have faced a broad range of challenges over the past century, including genetic impacts from the population bottleneck in the 1800s, and significant loss and fragmentation of habitat resulting in little opportunity for population growth on remaining small, geographically isolated reserves. To identify best practices for bison stewardship against this backdrop, managers must understand the genetic composition of existing conservation herds. This study characterized 14 plains bison (Bison bison bison) herds managed by the U.S. Department of Interior and Parks Canada Agency based on complete mtDNA …

Variants Within Genes Edil3 And Adgrb3 Are Associated With Divergent Fecal Egg Counts In Katahdin Sheep At Weaning, Gabrielle M. Becker, Joan M. Burke, Ronald M. Lewis, James E. Miller, James L.M. Morgan, Benjamin D. Rosen, Curtis P. Van Tassell, David R. Notter, Brenda M. Murdoch

Department of Animal Science: Faculty Publications

Gastrointestinal nematodes (GIN) pose a severe threat to sheep production worldwide. Anthelmintic drug resistance coupled with growing concern regarding potential environmental effects of drug use have demonstrated the necessity of implementing other methods of GIN control. The aim of this study was to test for genetic variants associated with resistance or susceptibility to GIN in Katahdin sheep to improve the current understanding of the genetic mechanisms responsible for host response to GIN. Linear regression and casecontrol genome-wide association studies were conducted with high-density genotype data and cube-root transformed weaning fecal egg counts (tFEC) of 583 Katahdin sheep. The casecontrol GWAS …

Cell-Free Dna Methylation Signatures In Cancer Detection And Classification, Jinyong Huang

USF Tampa Graduate Theses and Dissertations

Early detection of cancer is believed as one of the best solutions to improve the therapeutic outcomes and overall survival of cancer patients. Analysis of circulating nucleic acids in bodily fluids, referred to as “liquid biopsies”, is rapidly gaining prominence for this purpose. Cell-free DNA (cfDNA) methylation has emerged as a promising biomarker for early cancer detection, tumor type classification, and treatment response monitoring. Currently, most cfDNA methylation profiling technologies are based on bisulfite conversion, while enrichment-based methods such as cfMeDIP-seq are beginning to show potential. To expand the use of enrichment-based methods in cfDNA methylation profiling, here, we report …

Climate Effects On Black Spruce And Trembling Aspen Productivity In Natural Origin Mixed Stands, Mahadev Sharma

Aspen Bibliography

Forest managers need site productivity estimates for tree species growing in mixed stands. Models developed in the past are generally for pure stands and don’t factor in the effects of climate change on site productivity. Therefore, site index (SI) models were developed for black spruce (Picea mariana Mill. B.S.P.) and trembling aspen (Populus tremuloides Michx.) trees grown in natural origin mixed stands. For this, 186 trees (93 black spruce and trembling aspen each) were sampled from 31 even-aged natural mixed stands (sites) (3 trees/species/site) across Ontario, Canada. Stand height growth models were developed by incorporating climate variables during …

Elucidating Mechanisms Of Genetic Cross-Disease Associations At The Procr Vascular Disease Locus, David Stacey, Lingyan Chen, Paulina J Stanczyk, Joanna M M Howson, Amy M Mason, Stephen Burgess, Stephen Macdonald, Jonathan Langdown, Harriett Mckinney, Kate Downes, Neda Farahi, James E Peters, Saonli Basu, James S Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S De Vries, Nicholas L Smith, Amy D Gelinas, Daniel J Schneider, Nebojsa Janjic, Nilesh J Samani, Shu Ye, Charlotte Summers, Edwin R Chilvers, John Danesh, Dirk S Paul

Faculty, Staff and Student Publications

Many individual genetic risk loci have been associated with multiple common human diseases. However, the molecular basis of this pleiotropy often remains unclear. We present an integrative approach to reveal the molecular mechanism underlying the PROCR locus, associated with lower coronary artery disease (CAD) risk but higher venous thromboembolism (VTE) risk. We identify PROCR-p.Ser219Gly as the likely causal variant at the locus and protein C as a causal factor. Using genetic analyses, human recall-by-genotype and in vitro experimentation, we demonstrate that PROCR-219Gly increases plasma levels of (activated) protein C through endothelial protein C receptor (EPCR) ectodomain shedding in endothelial cells, …

Characterization Of Streptomyces Nymphaeiformis Sp. Nov., And Its Taxonomic Relatedness To Other Polyhydroxybutyrate-Degrading Streptomycetes, Gary R. Hix, Muhammad S. Khan, Mikayla T. Miller, Elisha C. Napier, Allison L. O'Brien, Roger P. White, Stephen F. Baron Ph.D.

Biology Faculty Scholarship

A polyhydroxybutyrate (PHB)-degrading actinomycete, strain SFB5A^T, was identified as a species of Streptomyces based on its membrane fatty acid profile and the presence of LL-diaminopimelic acid in the cell wall. It formed sporulating mycelia on most agar media, but flat or wrinkled, moist colonies on trypticase soy agar. Spores were smooth, cylindrical, and borne on long, straight to flexuous chains. It produced a light brown diffusible pigment, but not melanin. Comparison of genomic digital DNA–DNA hybridization (dDDH) and average nucleotide identity (ANI) values indicated that strain SFB5A^T was related to Streptomyces litmocidini JCM 4394^T , Streptomyces …

Multi-Year Data Analysis And Genomic Selection To Improve The Efficiency Of A Rice Breeding Program, Tommaso Cerioli

LSU Doctoral Dissertations

Plant breeding dramatically improved crops performances during human history and will play a pivotal role in shaping the future of agriculture. However, this activity requires large amount of time and resources. The availability of multi-year datasets and abundant DNA information enables new analyses and breeding approaches that can increase the productivity and efficiency of a breeding program. In recent years, the LSU Rice Breeding Program has implemented marker assisted selection (MAS) and genomic selection (GS) to predict performance of rice genotypes before field testing. The goal of this project was to conduct analyses and test molecular approaches to increase the …

Facilitation Differentially Affects Competitive Responses Of Aspen And Subalpine Fir Through Stages Of Stand Development, Rebecca Lee Molinari, Matthew F. Bekker, Benjamin D. St. Clair, Jason Bartholomew, R. Justin Derose, Stanley G. Kitchen, Samuel B. St. Clair

Aspen Bibliography

Spatial interactions between trees influence forest community succession. The objective of this study was to investigate how shifts in forest composition and proximity between tree species affect stand development over time in mixed forest systems. At six locations across the Fishlake National Forest, Utah, USA, in stands where facilitation has been documented previously, tree-ring samples were collected from aspen and subalpine fir trees. Basal area increment was calculated to characterize the effects of the proximity of overstory trees on multidecadal growth responses of aspen and subalpine fir in aspen-dominant and mixed aspen–conifer stands. Subalpine fir seedlings were established next to …

Characterization Of SccMec Instability In Methicillin-Resistant Staphylococcus Aureus Affecting Adjacent Chromosomal Regions, Including The Gene For Staphylococcal Protein A (Spa), Isabella A. Tickler, Fred C. Tenover, C. R. Scharn, R. V. Goering

Biology Faculty Publications

Staphylococcal cassette chromosome mec (SCCmec) represents a sequence of clear clinical and diagnostic importance in staphylococci. At a minimum the chromosomal cassette contains the mecA gene encoding PBP2a but frequently also includes additional antibiotic resistance genes (e.g., ermA and aadC; macrolide and aminoglycoside resistance, respectively). Certain regions within SCCmec elements are hot spots for sequence instability due to cassette-specific recombinases and a variety of internal mobile elements. SCCmec changes may affect not only cassette stability but the integrity of adjacent chromosomal sequences (e.g., the staphylococcal protein A gene; spa). We investigated SCCmec stability …

Conservation Status Assessment Of The Egg-Mimic Darter (Percidae: Etheostoma Pseudovulatum) Using A Multi-Faceted Approach, Zachary L. Wolf, John W. Johansen, Rebecca E. Blanton

Southeastern Fishes Council Proceedings

The imperiled Egg-mimic Darter (Etheostoma pseudovulatum) is a headwater-adapted fish restricted to an area less than 1000 km² in Tennessee. It is found in only six tributaries of the Duck River and the large, mainstem of this system may act as a barrier to dispersal, restricting population connectivity. The only status assessment of this species was over two decades ago; genetic diversity and the degree of population connectivity have never been evaluated. We conducted a conservation status assessment using a multi-faceted approach to better inform conservation management plans, including examining its current distribution, assessing habitat quality, estimating …

Salicylic Acid And N-Hydroxypipecolic Acid At The Fulcrum Of The Plant Immunity-Growth Equilibrium, Alyssa Shields, Vanessa Shivnauth, Christian Danve M. Castroverde

Biology Faculty Publications

Salicylic acid (SA) and N-hydroxypipecolic acid (NHP) are two central plant immune signals involved in both resistance at local sites of pathogen infection (basal resistance) and at distal uninfected sites after primary infection (systemic acquired resistance). Major discoveries and advances have led to deeper understanding of their biosynthesis and signaling during plant defense responses. In addition to their well-defined roles in immunity, recent research is emerging on their direct mechanistic impacts on plant growth and development. In this review, we will first provide an overview of how SA and NHP regulate local and systemic immune responses in plants. We …

A Chromosome-Scale Assembly Of The Djulis (Chenopodium Formosanum) Genome, An Emerging Orphan Crop From Taiwan, Peter J. Maughan, Eric N. Jellen, John Sproul, Karol Krak, Tzu-Yun Huang, Tzu Che Lin, Beatriz Navarro Dominguez, Yung-Fen Huang, Kate Jaggi, David E. Jarvis

Library/Life Sciences Undergraduate Poster Competition 2022

Djulis (Chenopodium formosanum Koidz.) is a semi-domesticated Taiwanese native crop. It is a BCD-genome hexaploid (2n = 6x = 54) relative of the Andean-native allotetraploid (AABB) quinoa (C. quinoa). Djulis has been grown in a relatively small area by aboriginal Taiwanese, who use it primarily as a fermentation starter to produce ritual alcoholic beverages. Djulis’ seed protein, like that of quinoa, is complete in terms of its human dietary essential amino acid profile; the seed also offers a wide variety of nutritionally important vitamins and minerals. These nutritional attributes have attracted international attention as a novel, healthy grain option. We …

Untangling The Placentome Gene Network Of Beef Heifers In Early Gestation, Wellison J.S. Diniz, Lawrence P. Reynolds, Alison K. Ward, Pawel P. Borowicz, Kevin K. Sedivec, Kacie L. Mccarthy, Cierrah J. Kassetas, Friederike Baumgaertner, James D. Kirsch, Sheri T. Dorsam, Tammi L. Neville, J. Chris Forcherio, Ronald R. Scott, Joel S. Caton, Carl R. Dahlen

Department of Animal Science: Faculty Publications

The cotyledon and caruncle tissues provide a functional bridge between the fetus and the dam. However, the relationship between these tissues and the transcriptomic profile that underlies the tissue functions remains elusive. Herein we investigate the expression profile of cotyledon and caruncle from nulliparous beef heifers carrying female fetuses at day 83 of pregnancy to identify changes occurring across tissues that contribute to placental function and their tissue-specific roles. We identified 2654 differentially expressed genes [padj ≤ 0.05, abs(log2FC) ≥ 1], including nutrient transporters and paternally imprinted genes. We found key regulators of tissue function and differentiation, including FOXO4, GATA2, …

Determining Some Quality Properties Of Oat Genotypes Collected From The Middle And West Black Sea Region, Zeki Mut, Hasan Akay, Ozge Doganay Erbas Kose, Ismail Sezer

The Philippine Agricultural Scientist

Healthy foodstuffs, including functional foods, are the key component of a healthy and prosperous life. Oat grains are rich in protein, soluble dietary fiber, β-glucan, starch, oil, some vitamins and minerals, and thus accepted as a healthy foodstuff. This study was conducted to determine physical and chemical quality traits of many different oat landraces/cultivars. In this study, 251 local oat genotypes, collected from 10 provinces of Western and Middle Black Sea Regions of Turkey and four standard oat cultivars were grown over the experimental fields of the Agricultural Application and Research Center at Samsun Ondokuz Mayıs University for two years …

Phylogenetic Analysis Of Tilapia Lake Virus (Tilv) Isolates From The Philippines Based On Partial Genome Segment 3 Sequences [Research Note], Dan Joseph C. Logronio, Joselito R. Somga, Maria Rowena R. Romana-Eguia, Sonia Somga, Demy Catedral, Gonzalo Jr Coloma

The Philippine Agricultural Scientist

This study aimed to expand current knowledge on TiLV genetic diversity by sequence analysis of a portion of genome segment 3 of TiLV detected from the Philippines. This includes a recently deposited sequence in GenBank (Accession No. LC504279) and six new sequences from cases of infection reported from 2017 to 2020. Phylogenetic analysis of 179 bp fragment of segment 3 showed that the seven TiLV isolates from the Philippines can be divided into three phylogenetic groups. When comparing all sequences, unique nucleotide substitutions and amino acids were noted among these groups. Variation in mortality rates in naturally infected samples was …

The Clock Modulator Nobiletin Mitigates Astrogliosis-Associated Neuroinflammation And Disease Hallmarks In An Alzheimer’S Disease Model, Marvin Wirianto, Chih-Yen Wang, Eunju Kim, Nobuya Koike, Ruben Gomez-Gutierrez, Kazunari Nohara, Gabriel Escobedo, Jong Min Choi, Chorong Han, Kazuhiro Yagita, Sung Yun Jung, Claudio Soto, Hyun Kyoung Lee, Rodrigo Morales, Seung-Hee Yoo, Zheng Chen

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is a devastating neurodegenerative disorder, and there is a pressing need to identify disease-modifying factors and devise interventional strategies. The circadian clock, our intrinsic biological timer, orchestrates various cellular and physiological processes including gene expression, sleep, and neuroinflammation; conversely, circadian dysfunctions are closely associated with and/or contribute to AD hallmarks. We previously reported that the natural compound Nobiletin (NOB) is a clock-enhancing modulator that promotes physiological health and healthy aging. In the current study, we treated the double transgenic AD model mice, APP/PS1, with NOB-containing diets. NOB significantly alleviated β-amyloid burden in both the hippocampus and the …

Large-Scale Integrative Analysis Of Soybean Transcriptome Using An Unsupervised Autoencoder Model, Lingtao Su, Chunhui Xu, Shuai Zeng, Li Su, Trupti Joshi, Gary Stacey, Dong Xu

Biomedical Sciences

Plant tissues are distinguished by their gene expression patterns, which can help identify tissue-specific highly expressed genes and their differential functional modules. For this purpose, large-scale soybean transcriptome samples were collected and processed starting from raw sequencing reads in a uniform analysis pipeline. To address the gene expression heterogeneity in different tissues, we utilized an adversarial deconfounding autoencoder (AD-AE) model to map gene expressions into a latent space and adapted a standard unsupervised autoencoder (AE) model to help effectively extract meaningful biological signals from the noisy data. As a result, four groups of 1,743, 914, 2,107, and 1,451 genes were …

Elucidating The Clinical Spectrum And Molecular Basis Of Hyal2 Deficiency, James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M Neuhann, Elaine H Zackai, Beth Keena, Jenina Capasso, Alex V Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M Wentzensen, Adam Jackson, Kate E Chandler, Zeynep H Coban-Akdemir, Jennifer E Posey, Siddharth Banka, James R Lupski, Sarah E Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H Crosby, Emma L Baple

Faculty, Staff and Student Publications

PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism.

METHODS: Clinical and genomic investigations were undertaken alongside molecular studies, including immunoblotting and immunofluorescence analyses of variant/wild-type human HYAL2 expressed in mouse fibroblasts, and in silico modeling of putative pathogenic variants.

RESULTS: Ten newly identified individuals with this condition were investigated, and they were associated with 9 novel pathogenic variants. Clinical studies defined genotype-phenotype correlations and …