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Molecular Genetics

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Articles 451 - 480 of 1693

Full-Text Articles in Genetics and Genomics

Structure-Function Characterization Of Zebrafish Gadd34 And Crep, Alice Thuc Truong, Ciera Wroten, Jessica Woo, Jey Kim, Joshua Tao, Kleo Hong, Twisha Patel Apr 2022

Structure-Function Characterization Of Zebrafish Gadd34 And Crep, Alice Thuc Truong, Ciera Wroten, Jessica Woo, Jey Kim, Joshua Tao, Kleo Hong, Twisha Patel

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.


Development Of Cloning Vehicles For Expression Of Gc-Maf In Yeast, Tammy Tran, Seohyun Lee, Jane Yu, Wilson Wu Apr 2022

Development Of Cloning Vehicles For Expression Of Gc-Maf In Yeast, Tammy Tran, Seohyun Lee, Jane Yu, Wilson Wu

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.


Proteomic Analysis Of The Expression Of Masp1 Dragline Silk Protein In E. Coli, Sophie Rae Pazzo, Rajan Amit Patel, Kamrin Athwal, Edward Kim Apr 2022

Proteomic Analysis Of The Expression Of Masp1 Dragline Silk Protein In E. Coli, Sophie Rae Pazzo, Rajan Amit Patel, Kamrin Athwal, Edward Kim

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.


The Central Dogma: Gene Expression, Ayisha Sookdeo Apr 2022

The Central Dogma: Gene Expression, Ayisha Sookdeo

Open Educational Resources

In this lesson plan, students will learn the basic structure and function of DNA and RNA. They will also learn the process of gene expression. Finally, students will learn about the scientific contributor, Ernest Everest Just, and his contributions to the field of Biology.


A Patient-Derived Ipsc Model To Study Glutamate Deficiency By Shank-3 Mutation In Autism Spectrum Disorder, Tiffany Berry, Courtney Caccia Apr 2022

A Patient-Derived Ipsc Model To Study Glutamate Deficiency By Shank-3 Mutation In Autism Spectrum Disorder, Tiffany Berry, Courtney Caccia

Biology Student Scholarship

Tiffany Berry ’22, Majors: Biology and Psychology

Courtney Caccia ’22, Majors: Biology and Psychology

Faculty Mentor: Dr. Charles Toth, Biology

The use of human stem cell lines derived from persons with Autism Spectrum Disorder (ASD) provides a unique opportunity to model brain growth and potential to regain brain activity for treatment. Our lab has previously used stem cells to derive 3D cardiomyocytes to examine cardiovascular disease as well as kidney organoids and macrophages to study kidney disease. Using techniques our lab has learned using these stem cell models have prepared us to examine cell communication in mutated neurons. We will …


Generating Improved Rna Localization Reporters Using The U1hp-U1a System, Ryan Dannemiller, Rebecca Adams Phd Apr 2022

Generating Improved Rna Localization Reporters Using The U1hp-U1a System, Ryan Dannemiller, Rebecca Adams Phd

[Archive] Belmont University Research Symposium (BURS)

Generating Improved RNA Localization Reporters Using the U1hp-U1A System

Ryan Dannemiller, Rebecca Adams, PhD. Belmont University, Nashville, TN.

Messenger mRNA (mRNA) is genetic material that is used to bridge between DNA in the nucleus and protein-making machinery in the cytoplasm of eukaryotic cells. The processes of transcription and translation are physically separated, so the localization of mRNA dictates whether the encoded protein can be generated. In order to observe the localization of specific transcripts in response to stimuli, tools are needed to track location of mRNA. For example, in response to heat shock and ethanol stress, most mRNA is retained …


Spr-5; Met-2 Maternal Reprogramming Cooperates With The Dream Complex To Regulate Developmental Cell Fates, Jazmin Dozier, Sandra Nguyen, Brandon Carpenter Apr 2022

Spr-5; Met-2 Maternal Reprogramming Cooperates With The Dream Complex To Regulate Developmental Cell Fates, Jazmin Dozier, Sandra Nguyen, Brandon Carpenter

Symposium of Student Scholars

Histone methylation is a post-transcriptional modification to the N-terminal tails of histone core proteins that regulates DNA accessibility, and consequently, gene expression. Like DNA, histone methylation can be inherited between generations, and is highly regulated during embryonic development. At fertilization, histone methylation must undergo maternal reprogramming to reset the epigenetic landscape in the new zygote. During maternal reprogramming of histone methylation in the nematode, C. elegans, H3K4me (a modification associated with active transcription) is removed by the H3K4 demethylase, SPR-5, and H3K9me (a modification associated with transcriptional repression) is subsequently added by the histone methyltransferase, MET-2. Recently, it was …


Tissue-Specific Diversity Of The Muscleblind Expression In Adult Flies., Davron Hanley, Anton Bryantsev Apr 2022

Tissue-Specific Diversity Of The Muscleblind Expression In Adult Flies., Davron Hanley, Anton Bryantsev

Symposium of Student Scholars

Department of Molecular and Cellular Biology, Kennesaw State University

The muscleblind (mbl) family of RNA-binding proteins regulates alternative splicing, determining mRNA transcript composition for various types of tissue, and has been implicated in myotonic dystrophy. The mbl gene is subject to alternative splicing in Drosophila, leading to multiple isoforms, and has several paralogs in humans. Mbl proteins vary significantly in length, although the significance of such diversity and the role of specific isoforms have not been fully explored.

Using immunofluorescence microscopy and polyclonal serum, we analyzed Mbl protein expression across adult Drosophila tissues. Mbl was detected in …


Improving Photosynthetic Efficiency In Microalgae Through The Genetic Engineering Of Energy Sensors And Photoreceptors, Taylor L. Britton Apr 2022

Improving Photosynthetic Efficiency In Microalgae Through The Genetic Engineering Of Energy Sensors And Photoreceptors, Taylor L. Britton

Biology ETDs

Through photosynthesis microalgae can convert sunlight, water, and CO2 into chemical energy that can be used to generate carbon neutral biofuels and biomass. With an ever-increasing demand and need for petroleum substitutes it is imperative that we improve the output of industrial-relevant crops such as microalgae. One important way of improving output in algae is by understanding the roles that stress and energy conversion is regulated in these organisms. Photosynthetic organisms fundamentally depend on light- and sugar-driven metabolic and signaling networks, which integrate environmental cues to govern and sustain growth and survival. SnRKs (SNF1-related protein kinases) and the photoreceptor …


Comparative Modeling And Evolutionary Comparison Of Serine Protease, A Timber Rattlesnake Venom Protein, Qawer Ayaz Apr 2022

Comparative Modeling And Evolutionary Comparison Of Serine Protease, A Timber Rattlesnake Venom Protein, Qawer Ayaz

Theses

The aim of this study is to create a homology model of VG35 serine protease and evaluate the evolutionary comparison of secondary structure on basis of protein model using YASARA. This method was furthermore used to predict the potential epitopes which can help in the investigation of future studies.

The VG35 was used to run a BLAST search which gave most resembled serine protease of different species which was then translated and modeled in YASARA. The modeled protein data was then used to determine the secondary structure. This was then used for evolutionary comparison of all proteins to VG35. Then …


Characterization Of Hemocytes In Amblyomma Americanum And Investigation Of Traf6’S Role In Proliferation Of Hemocytes In Response To Infection, Jacquelyn T. May Apr 2022

Characterization Of Hemocytes In Amblyomma Americanum And Investigation Of Traf6’S Role In Proliferation Of Hemocytes In Response To Infection, Jacquelyn T. May

Electronic Theses and Dissertations

Amblyomma americanum is a medically important vector in the southeast United States. Cellular and molecular aspects of the immune system of this species were examined. To investigate cellular processes, hemocytes produced in response to gram-negative infection were characterized according to their ultrastructure. Four hemocyte types were identified: prohemocytes, plasmatocytes, type-I granulocytes, and type-II granulocytes. To elucidate molecular processes, we investigated AamTRAF as an immune-related gene by silencing the gene using RNAi then quantifying the hemocytes after inoculation with gram-negative and positive bacteria. It was found that silencing AamTRAF caused a decrease in hemocyte proliferation in response to gram-positive but not …


Cryptic Hybridization In The Temperate Bamboos: Is Pleioblastus Simonii A Species Of Hybrid Origin?, Morgan Brown Apr 2022

Cryptic Hybridization In The Temperate Bamboos: Is Pleioblastus Simonii A Species Of Hybrid Origin?, Morgan Brown

Theses

Japanese river bamboo (Pleioblastus simonii, ‘medake,’‘kawadake’) is an ecologically important species of temperate bamboo native to Japan. This species is widely known and historically important in Japanese rural farm life. Based on morphological data, Japanese river bamboo is classified in Pleioblastus section Medakea (Poaceae: Bambusoideae) along with five other Japanese species, which are collectively considered to represent a phylogenetically distinct lineage. However, recent studies suggest that Japanese river bamboo may have arisen as a result of previously undetected hybridization (i.e., cryptic hybridization), while also calling into question the diversity of section Medakea. The role of hybridization in natural plant populations …


Rna Broccoli Aptamer To Track Transcription Rates In Vitro, Sarah Hodson Mar 2022

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 Mar 2022

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 …


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 Mar 2022

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 …


Salicylic Acid And N-Hydroxypipecolic Acid At The Fulcrum Of The Plant Immunity-Growth Equilibrium, Alyssa Shields, Vanessa Shivnauth, Christian Danve M. Castroverde Mar 2022

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 …


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 Mar 2022

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 …


Carbapenemase-Producing Pseudomonas Aeruginosa – An Emerging Challenge, Fred C. Tenover, David P. Nicolau, Christian M. Gill Feb 2022

Carbapenemase-Producing Pseudomonas Aeruginosa – An Emerging Challenge, Fred C. Tenover, David P. Nicolau, Christian M. Gill

Biology Faculty Publications

Carbapenem-resistant Pseudomonas aeruginosa (CR-PA) is a major healthcare-associated pathogen worldwide. In the United States, 10–30% of P. aeruginosa isolates are carbapenem-resistant, while globally the percentage varies considerably. A subset of carbapenem-resistant P. aeruginosa isolates harbour carbapenemases, although due in part to limited screening for these enzymes in clinical laboratories, the actual percentage is unknown. Carbapenemase-mediated carbapenem resistance in P. aeruginosa is a significant concern as it greatly limits the choice of anti-infective strategies, although detecting carbapenemase-producing P. aeruginosa in the clinical laboratory can be challenging. Such organisms also have been associated with nosocomial spread requiring infection prevention interventions. The carbapenemases …


The Antarctic Weddell Seal Genome Reveals Evidence Of Selection On Cardiovascular Phenotype And Lipid Handling, Hyun Ji Noh, Jason Turner-Maier, S. Anne Schulberg, Michael L. Fitzgerald, Jeremy Johnson, Kaitlin N. Allen, Luis A. Huckstadt, Annabelle J. Batten, Jessica Alfoldi, Daniel P. Costa, Elinor K. Karlsson, Warren M. Zapol, Emmanuel S. Buys, Kerstin Lindbald-Toh, Allyson G. Hindle Feb 2022

The Antarctic Weddell Seal Genome Reveals Evidence Of Selection On Cardiovascular Phenotype And Lipid Handling, Hyun Ji Noh, Jason Turner-Maier, S. Anne Schulberg, Michael L. Fitzgerald, Jeremy Johnson, Kaitlin N. Allen, Luis A. Huckstadt, Annabelle J. Batten, Jessica Alfoldi, Daniel P. Costa, Elinor K. Karlsson, Warren M. Zapol, Emmanuel S. Buys, Kerstin Lindbald-Toh, Allyson G. Hindle

Life Sciences Faculty Research

The Weddell seal (Leptonychotes weddellii) thrives in its extreme Antarctic environment. We generated the Weddell seal genome assembly and a high-quality annotation to investigate genome-wide evolutionary pressures that underlie its phenotype and to study genes implicated in hypoxia tolerance and a lipid-based metabolism. Genome-wide analyses included gene family expansion/contraction, positive selection, and diverged sequence (acceleration) compared to other placental mammals, identifying selection in coding and non-coding sequence in five pathways that may shape cardiovascular phenotype. Lipid metabolism as well as hypoxia genes contained more accelerated regions in the Weddell seal compared to genomic background. Top-significant genes were SUMO2 and EP300; …


Phylogenomic Discordance Suggests Polytomies Along The Backbone Of The Large Genus Solanum, Edeline Gagnon, Rebeccca Hilgenhof, Andrés Orejuela, Angela J. Mcdonnell, Gaurav Sablok, Xavier Aubriot, Leandro Giacomin, Yuri Gouvêa, Thamyris Bragionis, João Renato Stehmann, Lynn Bohs, Steven Dodsworth, Christopher T. Martine, Péter Poczai, Sandra Knapp, Tiina Särkinen Feb 2022

Phylogenomic Discordance Suggests Polytomies Along The Backbone Of The Large Genus Solanum, Edeline Gagnon, Rebeccca Hilgenhof, Andrés Orejuela, Angela J. Mcdonnell, Gaurav Sablok, Xavier Aubriot, Leandro Giacomin, Yuri Gouvêa, Thamyris Bragionis, João Renato Stehmann, Lynn Bohs, Steven Dodsworth, Christopher T. Martine, Péter Poczai, Sandra Knapp, Tiina Särkinen

Faculty Journal Articles

Premise of the study

Evolutionary studies require solid phylogenetic frameworks, but increased volumes of phylogenomic data have revealed incongruent topologies among gene trees in many organisms both between and within genomes. Some of these incongruences indicate polytomies that may remain impossible to resolve. Here we investigate the degree of gene-tree discordance in Solanum, one of the largest flowering plant genera that includes the cultivated potato, tomato, and eggplant, as well as 24 minor crop plants.

Methods

A densely sampled species-level phylogeny of Solanum is built using unpublished and publicly available Sanger sequences comprising 60% of all accepted species (742 spp.) …


Detection Of Methicillin-Resistant Staphylococcus Aureus Infections Using Molecular Methods, Fred C. Tenover, Isabella A. Tickler Feb 2022

Detection Of Methicillin-Resistant Staphylococcus Aureus Infections Using Molecular Methods, Fred C. Tenover, Isabella A. Tickler

Biology Faculty Publications

The application of molecular detection methods for bacterial pathogens has dramatically improved the outcomes of septic patients, including those with methicillin-resistant Staphylococcus aureus (MRSA) infections. Molecular methods can be applied to a variety of clinical specimens including nasal swabs, growth in blood culture bottles, and wounds. While data show that the overall accuracy of molecular tests for MRSA is high, results can be confounded by the presence of multiple staphylococcal species in a specimen, insertions and deletions of DNA in and around the Staphylococcal Cassette Chromosome mec (SCCmec) element, and point mutations in mecA. Herein, we explore the complexities of …


Knockdown Of Mdm2 In Hepg2 Cell Line: A Step Towards Understanding The Relation Between Mirna590-3p And Its Downstream Target Gene, Mdm2, In Hepatocellular Carcinoma, Jihad Mahmoud Jan 2022

Knockdown Of Mdm2 In Hepg2 Cell Line: A Step Towards Understanding The Relation Between Mirna590-3p And Its Downstream Target Gene, Mdm2, In Hepatocellular Carcinoma, Jihad Mahmoud

Theses and Dissertations

Background: miRNA 590-3p is a small non-coding RNA that has previously been associated with the occurrence and progression of several cancer types. Its expression pattern and biological role in Hepatocellular carcinoma (HCC), however, remain controversial. Interestingly, a previous study in our lab revealed a tumor suppressing activity of miR-590-3p in HCC and identified the MDM2 gene as the miR-590-3p target gene.

Aim: The current study aimed to knock down the expression of MDM2 in HepG2 cells to understand how the inhibition of MDM2, as a validated downstream target of miR-590-3p, would affect different functional pathways in HCC. In …


Data-Driven Modeling Predicts Gene Regulatory Network Dynamics During The Differentiation Of Multipotential Hematopoietic Progenitors, Joanna Handzlik, Manu Jan 2022

Data-Driven Modeling Predicts Gene Regulatory Network Dynamics During The Differentiation Of Multipotential Hematopoietic Progenitors, Joanna Handzlik, Manu

Biology Faculty Publications

Cellular differentiation during hematopoiesis is guided by gene regulatory networks (GRNs) comprising transcription factors (TFs) and the effectors of cytokine signaling. Based largely on analyses conducted at steady state, these GRNs are thought to be organized as a hierarchy of bistable switches, with antagonism between Gata1 and PU.1 driving red- and white-blood cell differentiation. Here, we utilize transient gene expression patterns to infer the genetic architecture—the type and strength of regulatory interconnections—and dynamics of a twelve-gene GRN including key TFs and cytokine receptors. We trained gene circuits, dynamical models that learn genetic architecture, on high temporal-resolution gene-expression data from the …


Rare Coding Variants In 35 Genes Associate With Circulating Lipid Levels-A Multi-Ancestry Analysis Of 170,000 Exomes, George Hindy, Peter Dornbos, Mark D Chaffin, Dajiang J Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K Arnett, Stella Aslibekyan, Gil Atzmon, Christie M Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C Becker, Lawrence F Bielak, Joshua C Bis, John Blangero, Eric Boerwinkle, Lori L Bonnycastle, Erwin Bottinger, Donald W Bowden, Matthew J Bown, Jennifer A Brody, Jai G Broome, Noël P Burtt, Brian E Cade, Federico Centeno-Cruz, Edmund Chan, Yi-Cheng Chang, Yii-Der I Chen, Ching-Yu Cheng, Won Jung Choi, Rajiv Chowdhury, Cecilia Contreras-Cubas, Emilio J Córdova, Adolfo Correa, L Adrienne Cupples, Joanne E Curran, John Danesh, Paul S De Vries, Ralph A Defronzo, Harsha Doddapaneni, Ravindranath Duggirala, Susan K Dutcher, Patrick T Ellinor, Leslie S Emery, Jose C Florez, Myriam Fornage, Barry I Freedman, Valentin Fuster, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Soren Germer, Richard A Gibbs, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez, Maria Elena Gonzalez-Villalpando, Mariaelisa Graff, Sarah E Graham, Niels Grarup, Leif C Groop, Xiuqing Guo, Namrata Gupta, Sohee Han, Craig L Hanis, Torben Hansen, Jiang He, Nancy L Heard-Costa, Yi-Jen Hung, Mi Yeong Hwang, Marguerite R Irvin, Sergio Islas-Andrade, Gail P Jarvik, Hyun Min Kang, Sharon L R Kardia, Tanika Kelly, Eimear E Kenny, Alyna T Khan, Bong-Jo Kim, Ryan W Kim, Young Jin Kim, Heikki A Koistinen, Charles Kooperberg, Johanna Kuusisto, Soo Heon Kwak, Markku Laakso, Leslie A Lange, Jiwon Lee, Juyoung Lee, Seonwook Lee, Donna M Lehman, Rozenn N Lemaitre, Allan Linneberg, Jianjun Liu, Ruth J F Loos, Steven A Lubitz, Valeriya Lyssenko, Ronald C W Ma, Lisa Warsinger Martin, Angélica Martínez-Hernández, Rasika A Mathias, Stephen T Mcgarvey, Ruth Mcpherson, James B Meigs, Thomas Meitinger, Olle Melander, Elvia Mendoza-Caamal, Ginger A Metcalf, Xuenan Mi, Karen L Mohlke, May E Montasser, Jee-Young Moon, Hortensia Moreno-Macías, Alanna C Morrison, Donna M Muzny, Sarah C Nelson, Peter M Nilsson, Jeffrey R O'Connell, Marju Orho-Melander, Lorena Orozco, Colin N A Palmer, Nicholette D Palmer, Cheol Joo Park, Kyong Soo Park, Oluf Pedersen, Juan M Peralta, Patricia A Peyser, Wendy S Post, Michael Preuss, Bruce M Psaty, Qibin Qi, D C Rao, Susan Redline, Alexander P Reiner, Cristina Revilla-Monsalve, Stephen S Rich, Nilesh Samani, Heribert Schunkert, Claudia Schurmann, Daekwan Seo, Jeong-Sun Seo, Xueling Sim, Rob Sladek, Kerrin S Small, Wing Yee So, Adrienne M Stilp, E Shyong Tai, Claudia H T Tam, Kent D Taylor, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Michael Y Tsai, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Miriam S Udler, Rob M Van Dam, Ramachandran S Vasan, Karine A Viaud Martinez, Fei Fei Wang, Xuzhi Wang, Hugh Watkins, Daniel E Weeks, James G Wilson, Daniel R Witte, Tien-Yin Wong, Lisa R Yanek, Amp-T2d-Genes, Myocardial Infarction Genetics Consortium, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Nhlbi Topmed Lipids Working Group, Sekar Kathiresan, Daniel J Rader, Jerome I Rotter, Michael Boehnke, Mark I Mccarthy, Cristen J Willer, Pradeep Natarajan, Jason A Flannick, Amit V Khera, Gina M Peloso Jan 2022

Rare Coding Variants In 35 Genes Associate With Circulating Lipid Levels-A Multi-Ancestry Analysis Of 170,000 Exomes, George Hindy, Peter Dornbos, Mark D Chaffin, Dajiang J Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K Arnett, Stella Aslibekyan, Gil Atzmon, Christie M Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C Becker, Lawrence F Bielak, Joshua C Bis, John Blangero, Eric Boerwinkle, Lori L Bonnycastle, Erwin Bottinger, Donald W Bowden, Matthew J Bown, Jennifer A Brody, Jai G Broome, Noël P Burtt, Brian E Cade, Federico Centeno-Cruz, Edmund Chan, Yi-Cheng Chang, Yii-Der I Chen, Ching-Yu Cheng, Won Jung Choi, Rajiv Chowdhury, Cecilia Contreras-Cubas, Emilio J Córdova, Adolfo Correa, L Adrienne Cupples, Joanne E Curran, John Danesh, Paul S De Vries, Ralph A Defronzo, Harsha Doddapaneni, Ravindranath Duggirala, Susan K Dutcher, Patrick T Ellinor, Leslie S Emery, Jose C Florez, Myriam Fornage, Barry I Freedman, Valentin Fuster, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Soren Germer, Richard A Gibbs, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez, Maria Elena Gonzalez-Villalpando, Mariaelisa Graff, Sarah E Graham, Niels Grarup, Leif C Groop, Xiuqing Guo, Namrata Gupta, Sohee Han, Craig L Hanis, Torben Hansen, Jiang He, Nancy L Heard-Costa, Yi-Jen Hung, Mi Yeong Hwang, Marguerite R Irvin, Sergio Islas-Andrade, Gail P Jarvik, Hyun Min Kang, Sharon L R Kardia, Tanika Kelly, Eimear E Kenny, Alyna T Khan, Bong-Jo Kim, Ryan W Kim, Young Jin Kim, Heikki A Koistinen, Charles Kooperberg, Johanna Kuusisto, Soo Heon Kwak, Markku Laakso, Leslie A Lange, Jiwon Lee, Juyoung Lee, Seonwook Lee, Donna M Lehman, Rozenn N Lemaitre, Allan Linneberg, Jianjun Liu, Ruth J F Loos, Steven A Lubitz, Valeriya Lyssenko, Ronald C W Ma, Lisa Warsinger Martin, Angélica Martínez-Hernández, Rasika A Mathias, Stephen T Mcgarvey, Ruth Mcpherson, James B Meigs, Thomas Meitinger, Olle Melander, Elvia Mendoza-Caamal, Ginger A Metcalf, Xuenan Mi, Karen L Mohlke, May E Montasser, Jee-Young Moon, Hortensia Moreno-Macías, Alanna C Morrison, Donna M Muzny, Sarah C Nelson, Peter M Nilsson, Jeffrey R O'Connell, Marju Orho-Melander, Lorena Orozco, Colin N A Palmer, Nicholette D Palmer, Cheol Joo Park, Kyong Soo Park, Oluf Pedersen, Juan M Peralta, Patricia A Peyser, Wendy S Post, Michael Preuss, Bruce M Psaty, Qibin Qi, D C Rao, Susan Redline, Alexander P Reiner, Cristina Revilla-Monsalve, Stephen S Rich, Nilesh Samani, Heribert Schunkert, Claudia Schurmann, Daekwan Seo, Jeong-Sun Seo, Xueling Sim, Rob Sladek, Kerrin S Small, Wing Yee So, Adrienne M Stilp, E Shyong Tai, Claudia H T Tam, Kent D Taylor, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Michael Y Tsai, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Miriam S Udler, Rob M Van Dam, Ramachandran S Vasan, Karine A Viaud Martinez, Fei Fei Wang, Xuzhi Wang, Hugh Watkins, Daniel E Weeks, James G Wilson, Daniel R Witte, Tien-Yin Wong, Lisa R Yanek, Amp-T2d-Genes, Myocardial Infarction Genetics Consortium, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Nhlbi Topmed Lipids Working Group, Sekar Kathiresan, Daniel J Rader, Jerome I Rotter, Michael Boehnke, Mark I Mccarthy, Cristen J Willer, Pradeep Natarajan, Jason A Flannick, Amit V Khera, Gina M Peloso

Faculty, Staff and Student Publications

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using sequence data from >170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African, 16,440 Hispanic/Latino, 10,420 East Asian, and 1,182 Samoan. We identified 35 genes associated with circulating lipid levels; some of these genes have not been previously associated with lipid levels when using rare coding variation from population-based samples. We prioritize 32 genes in array-based genome-wide association study (GWAS) loci based on aggregations of rare coding variants; three (EVI5, …


Clinical Performance Of The Xpert® Ct/Ng Test For Detection Of Chlamydia Trachomatis And Neisseria Gonorrhoeae: A Multicenter Evaluation In Chinese Urban Hospitals, Fred C. Tenover, Yan Han, Mei-Qin Shi, Qing-Ping Jiang, Wen-Jing Le, Xiao-Lin Qin, Han-Zhen Xiong, He-Ping Zheng, Yi-Wei Tang, Yue-Ping Yin Jan 2022

Clinical Performance Of The Xpert® Ct/Ng Test For Detection Of Chlamydia Trachomatis And Neisseria Gonorrhoeae: A Multicenter Evaluation In Chinese Urban Hospitals, Fred C. Tenover, Yan Han, Mei-Qin Shi, Qing-Ping Jiang, Wen-Jing Le, Xiao-Lin Qin, Han-Zhen Xiong, He-Ping Zheng, Yi-Wei Tang, Yue-Ping Yin

Biology Faculty Publications

Background: We aimed to evaluate the clinical performance of the GeneXpert® (Xpert) CT/NG assay for the detection of Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) using urine and cervical swabs collected from patients in China.

Methods: This study was conducted from September 2016 to September 2018 in three Chinese urban hospitals. The results from the Xpert CT/NG test were compared to those from the Roche cobas® 4800 CT/NG test. Discordant results were confirmed by DNA sequence analysis.

Results: In this study, 619 first void urine (FVU) specimens and 1,042 cervical swab specimens were included in the final dataset. There were …


Investigating Replacement Of A Yeast Gene With A Human Gene As A Rare Disease Model System, Emma Pastoor, Amy Wilstermann, Rachael Baker Jan 2022

Investigating Replacement Of A Yeast Gene With A Human Gene As A Rare Disease Model System, Emma Pastoor, Amy Wilstermann, Rachael Baker

Summer Research

  • BCS1L is a mitochondrial protein that assists in building complex III of the electron transport chain which allows for cellular respiration to occur
  • Different mutations in BCS1L can result in three rare genetic diseases: Bjornstad Syndrome, BCS1L Mitopathy, or GRACILE Syndrome


Molecular Genetic Investigation Of Twins, Families, And Populations, Jeffrey John Beck Jan 2022

Molecular Genetic Investigation Of Twins, Families, And Populations, Jeffrey John Beck

Dissertations and Theses

Twins have long been of interest for illuminating genetic and environmental influences on human traits and diseases. These explorations have been accelerated by the substantial amount of information collected from twins and their families participating in twin registers around the world. In this dissertation, I review what is known and what remains unknown about the biology and genetics of twins and the underlying twinning process. To elucidate additional genetic factors of the twinning process, I employed pedigree-based analysis to identify genetic regions shared among distantly related mothers of dizygotic twins. The shared regions may potentially contain rare genetic variants with …


Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang Jan 2022

Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang

Theses and Dissertations

Elevated alternative colony stimulating factor 3 receptor (CSF3R) isoforms are observed in myelodysplastic syndromes (MDS) and other myeloid neoplasms, but their role in driving disease progression has not been fully explained. In this study we report on the role of an MDS-associated splicing factor SRSF2 and its effects on the production of Class III and Class IV CSF3R isoforms and granulopoiesis. Class IV add-back in Csf3r-null mice showed impaired neutrophil differentiation with increased number of CFU-G, which largely consisted of metamyelocytes, while Class III showed greater dysgranulopoiesis accompanied by dysmorphic neutrophils. Alternative CSF3R isoforms were elevated in …


Identifying Adaptor Proteins For Selective Mrna Export In S. Cerevisiae, Chloe Baker, Rebecca Adams Jan 2022

Identifying Adaptor Proteins For Selective Mrna Export In S. Cerevisiae, Chloe Baker, Rebecca Adams

Science University Research Symposium (SURS)

The export of mature mRNA from the nucleus of the cell to the cytoplasm is crucial for a cell’s survival, as this process is necessary to produce proteins encoded by these transcripts. In S. cerevisiae (yeast) cells, a protein known as Mex67 must bind to the mRNA while it’s in the nucleus so it can cross through the nuclear pore complex (NPC). Mex67 cannot bind to the mRNA directly, instead it needs to be accompanied by adaptor proteins to aid it in getting across the NPC. Stress conditions such as heat shock interferes with the function of these adaptor …


Development Of Novel, Miniaturized Sperm Cell Isolation Techniques For Sexual Assault Samples, Brittany Celeste Hudson Jan 2022

Development Of Novel, Miniaturized Sperm Cell Isolation Techniques For Sexual Assault Samples, Brittany Celeste Hudson

Theses and Dissertations

The ever-increasing sexual assault evidence collection kit backlog within the United States has prompted the search (and desperate need) for a more efficient, cost-effective, and rapid processing technique that can separate male and female contributions from evidentiary samples. Although backlogs have largely been tackled across the United States and many technological advancements have made the forensic DNA analysis workflow quicker, techniques for handling sexual assault samples remain time-consuming, tedious, and inefficient at separating cellular fractions from the victim and perpetrator. Thus, this research sought to identify a reproducible sperm isolation method using antibodies and/or alternative differential cell lysis techniques as …