Open Access. Powered by Scholars. Published by Universities.®

Genetics and Genomics Commons™

Open Access. Powered by Scholars. Published by Universities.®

2018

Discipline
Institution
Keyword
Publication
Publication Type
File Type

Articles 211 - 240 of 616

Full-Text Articles in Genetics and Genomics

Functional Polymorphisms Of Alcohol Metabolism Genes And Their Protection Against Alcoholism Via Gene Therapy: A Systematic Review, Olivia Tzeng Jul 2018

Functional Polymorphisms Of Alcohol Metabolism Genes And Their Protection Against Alcoholism Via Gene Therapy: A Systematic Review, Olivia Tzeng

Psychological Science Undergraduate Honors Theses

Around 45% of East Asians are unable to fully metabolize ethanol due to functional

polymorphisms of alcohol metabolism genes, specifically alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). These individuals display high levels of toxic blood acetaldehyde when consuming alcohol, causing symptoms such as tachycardia, vomiting, and flushing. The studies included in this review examine how functional polymorphisms of ADH and ALDH protect against alcoholism in addition to how polymorphisms can be utilized as protection against alcoholism via gene therapy. The studies included found that carriers of the ADH and ALDH polymorphisms were 66 to 99% genetically protected against alcoholism. Through …


Small Non-Coding Rna Expression And Vertebrate Anoxia Tolerance, Claire L. Riggs, Amanda Summers, Daniel E. Warren, Göran E. Nilsson, Sjannie Lefevre, W. W. Dowd, Sarah Milton, Jason E. Podrabsky Jul 2018

Small Non-Coding Rna Expression And Vertebrate Anoxia Tolerance, Claire L. Riggs, Amanda Summers, Daniel E. Warren, Göran E. Nilsson, Sjannie Lefevre, W. W. Dowd, Sarah Milton, Jason E. Podrabsky

Biology Faculty Publications and Presentations

Background: Extreme anoxia tolerance requires a metabolic depression whose modulation could involve small non-coding RNAs (small ncRNAs), which are specific, rapid, and reversible regulators of gene expression. A previous study of small ncRNA expression in embryos of the annual killifish Austrofundulus limnaeus, the most anoxiatolerant vertebrate known, revealed a specific expression pattern of small ncRNAs that could play important roles in anoxia tolerance. Here, we conduct a comparative study on the presence and expression of small ncRNAs in the most anoxia-tolerant representatives of several major vertebrate lineages, to investigate the evolution of and mechanisms supporting extreme anoxia tolerance. The epaulette …


Water Flow And Biofilm Cover Influence Environmental Dna Detection In Recirculating Streams, Arial Shogren, Jennifer L. Tank, Scott P. Egan, Olivia August, Emma J. Rosi, Brittany R. Hanrahan, Mark A. Renshaw, Crysta A. Gantz, Diogo Bolster Jul 2018

Water Flow And Biofilm Cover Influence Environmental Dna Detection In Recirculating Streams, Arial Shogren, Jennifer L. Tank, Scott P. Egan, Olivia August, Emma J. Rosi, Brittany R. Hanrahan, Mark A. Renshaw, Crysta A. Gantz, Diogo Bolster

Environmental Science and Management Faculty Publications and Presentations

The increasing use of environmental DNA (eDNA) for determination of species presence in aquatic ecosystems is an invaluable technique for both ecology as a field and for the management of aquatic ecosystems. We examined the degradation dynamics of fish eDNA using an experimental array of recirculating streams, also using a “nested” primer assay to estimate degradation among eDNA fragment sizes. We introduced eDNA into streams with a range of water velocities (0.1–0.8 m s–1) and substrate biofilm coverage (0–100%) and monitored eDNA concentrations over time (∼10 d) to assess how biophysical conditions influence eDNA persistence. We found that the presence …


Arthropod Transcriptional Activator Protein-1 (Ap-1) Aids Tick-Rickettsial Pathogen Survival In The Cold, Supreet Khanal, Vikas Taank, John F. Anderson, Hameeda Sultana, Girish Neelakanta Jul 2018

Arthropod Transcriptional Activator Protein-1 (Ap-1) Aids Tick-Rickettsial Pathogen Survival In The Cold, Supreet Khanal, Vikas Taank, John F. Anderson, Hameeda Sultana, Girish Neelakanta

Biological Sciences Faculty Publications

Ixodes scapularis ticks transmit several pathogens to humans including rickettsial bacterium, Anaplasma phagocytophilum. Here, we report that A. phagocytophilum uses tick transcriptional activator protein-1 (AP-1) as a molecular switch in the regulation of arthropod antifreeze gene, iafgp. RNAi-mediated silencing of ap-1 expression significantly affected iafgp gene expression and A. phagocytophilum burden in ticks upon acquisition from the murine host. Gel shift assays provide evidence that both the bacterium and AP-1 influences iafgp promoter and expression. The luciferase assays revealed that a region of approximately 700 bp upstream of the antifreeze gene is sufficient for AP-1 binding to promote …


Genomic And Physiological Characterization Of The Verrucomicrobia Isolate Geminisphaera Colitermitum Gen, John T. Wertz, Eunji Kim, John A. Breznak, Thomas M. Schmidt Jul 2018

Genomic And Physiological Characterization Of The Verrucomicrobia Isolate Geminisphaera Colitermitum Gen, John T. Wertz, Eunji Kim, John A. Breznak, Thomas M. Schmidt

University Faculty Publications and Creative Works

The name Diplosphaera, the proposed genus name for Verrucomicrobia strain TAV2, was previously used for a microalga. Subsequently, we corrected the genus name to Didymococcus. Although we consulted with nomenclature authorities before the original publication, we learned recently that this corrected name also is not appropriate. In order to maintain the correct taxonomy in the literature, the revised genus and species names for the organism in our paper are described below.


Viral Recombination: Ecology, Evolution, And Pathogenesis, Kenneth M. Stedman Jul 2018

Viral Recombination: Ecology, Evolution, And Pathogenesis, Kenneth M. Stedman

Biology Faculty Publications and Presentations

Recombination between and within virus genomes is being increasingly recognized as a major driver of virus evolution. Virus evolution can lead to changes in virus pathogenesis and virus ecology. The ubiquity of high-throughput sequencing of multiple virus isolates has revolutionized data acquisition, thus the editors of Viruses decided that a Special Issue on viral recombination was appropriate.


Comparative Genetic And Genomic Analysis Of The Novel Fusellovirus Sulfolobus Spindle-Shaped Virus 10, David Andrew Goodman, Kenneth M. Stedman Jul 2018

Comparative Genetic And Genomic Analysis Of The Novel Fusellovirus Sulfolobus Spindle-Shaped Virus 10, David Andrew Goodman, Kenneth M. Stedman

Biology Faculty Publications and Presentations

Viruses that infect thermophilic Archaea are unique in both their structure and genetic makeup. The lemon-shaped fuselloviruses—which infect members of the order Sulfolobales, growing optimally at 80 C and pH 3—are some of the most ubiquitous and best studied viruses of the thermoacidophilic Archaea. Nonetheless, much remains to be learned about these viruses. In order to investigate fusellovirus evolution, we have isolated and characterized a novel fusellovirus, Sulfolobus spindle-shaped virus 10 (formerly SSV-L1). Comparative genomic analyses highlight significant similarity with both SSV8 and SSV9, as well as conservation of promoter elements within the Fuselloviridae. SSV10 encodes five ORFs with no …


Epigenetic Alterations Mediate Ipsc Normalization Of Dna-Repair Expression And Tnr Stability In Huntington's Disease, Peter A. Mollica, Martina Zamponi, John Reid, Deepak Sharma, Alyson E. White, Roy C. Ogle, Robert D. Bruno, Patrick C. Sachs Jul 2018

Epigenetic Alterations Mediate Ipsc Normalization Of Dna-Repair Expression And Tnr Stability In Huntington's Disease, Peter A. Mollica, Martina Zamponi, John Reid, Deepak Sharma, Alyson E. White, Roy C. Ogle, Robert D. Bruno, Patrick C. Sachs

School of Medical Diagnostics & Translational Sciences Publications

Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat (TNR) expansion within the HTT gene. The mechanisms underlying HD-associated cellular dysfunction in pluripotency and neurodevelopment are poorly understood. We had previously identified downregulation of selected DNA repair genes in HD fibroblasts relative to wild-type fibroblasts, as a result of promoter hypermethylation. Here, we tested the hypothesis that hypomethylation during cellular reprogramming to the induced pluripotent stem cell (iPSC) state leads to upregulation of DNA repair genes and stabilization of TNRs in HD cells. We sought to determine how the HD TNR region …


Inference And Analysis Of Multilayered Mirna-Mediated Networks In Cancer, Duc Do Jul 2018

Inference And Analysis Of Multilayered Mirna-Mediated Networks In Cancer, Duc Do

Dissertations (1934 -)

MicroRNAs (miRNAs) are small noncoding transcripts that can regulate gene expression, thereby controlling diverse biological processes. Aberrant disruptions of miRNA expression and their interactions with other biological agents (e.g., coding and noncoding transcripts) have been associated with several types of cancer. The goal of this dissertation is to use multidimensional genomic data to model two different gene regulation mechanisms by miRNAs in cancer. This dissertation results from two research projects. The first project investigates a miRNA-mediated gene regulation mechanism called competing endogenous RNA (ceRNA) interactions, which suggests that some transcripts can indirectly regulate one another's activity through their interactions with …


Detecting, Quantifying, And Discriminating The Mechanism Of Mosaic Chromosomal Aneuploidies Using Mad-Seq, Yu Kong, Esther R. Berko, Anthony Marcketta, Shahina B. Maqbool, Claudia A. Simoes-Pires, David F. Kronn, John M. Greally Jul 2018

Detecting, Quantifying, And Discriminating The Mechanism Of Mosaic Chromosomal Aneuploidies Using Mad-Seq, Yu Kong, Esther R. Berko, Anthony Marcketta, Shahina B. Maqbool, Claudia A. Simoes-Pires, David F. Kronn, John M. Greally

NYMC Faculty Publications

Current approaches to detect and characterize mosaic chromosomal aneuploidy are limited by sensitivity, efficiency, cost, or the need to culture cells. We describe the mosaic aneuploidy detection by massively parallel sequencing (MAD-seq) capture assay and the MADSEQ analytical approach that allow low (


Self-Reported Oral Health Assessment And Attitudes Toward Oral Health For Adults With Cystic Fibrosis, Ahmed Ali Almuntashiri Jul 2018

Self-Reported Oral Health Assessment And Attitudes Toward Oral Health For Adults With Cystic Fibrosis, Ahmed Ali Almuntashiri

Dental Hygiene Theses & Dissertations

Purpose: Cystic fibrosis (CF) is a chronic genetic disorder that an individual has at birth. Cystic fibrosis impacts equally all races, gender and becomes worse over time. The aim of this current study was to evaluate oral health status, interaction with the oral health system, and oral health awareness in adults with cystic fibrosis. Methods: A validated survey consisting of 27 questions was distributed online through cystic fibrosis Facebook pages. Individuals with CF who were 18 years old or older, residing in the U.S. and having English as their primary language were asked to respond to the survey. Independent variables …


The Effect Of Sweeteners In Drosophila Melanogaster's Locomotion., Araceli Francisco Jun 2018

The Effect Of Sweeteners In Drosophila Melanogaster's Locomotion., Araceli Francisco

The International Student Science Fair 2018

This research aims to measure how much locomotion is affected in Drosophila melanogaster considering the alimentation. The experiment was divided in a control group, a group fed with natural sugar and another fed with artificial sugar. The diets were prepared based on standard laboratory food (SLF) by varying the sugar. Several generations were grown. The locomotion was measured through monitors with infrared lasers which calculated the number of times the fly passed through it. They were accustomed to a day and night cycle and were kept under observation for a period of 13 days. As a result, the group that …


A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong Jun 2018

A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong

The International Student Science Fair 2018

Hypertrophic cardiomyopathy (HCM), that clinically manifests as an enlarged heart is a highly prevalent cardiac disorder with propensity towards arrhythmia-induced sudden cardiac death. The mechanism of HCM remains poorly defined, necessitating further understanding of the disease for improved therapeutic strategies. As it is challenging to obtain cardiac biopsies from human subjects, using induced pluripotent stem cells technology, we generated cardiomyocytes (CMs) in a dish from HCM patients. These HCM-CMs presented the clinical manifestation in that they were significantly larger in size in comparison to control (healthy)-CMs. Furthermore, gene expression profiling of cardiac ion channels revealed increased transcripts encoding for calcium …


Exploring The Role Of Rna Polymerase Iii Complex Assembly On Ribosomal Dna Silencing In Saccharomyces Cerevisiae, Kyle Thomas Kern Jun 2018

Exploring The Role Of Rna Polymerase Iii Complex Assembly On Ribosomal Dna Silencing In Saccharomyces Cerevisiae, Kyle Thomas Kern

LSU Doctoral Dissertations

The yeast rDNA region is host to a number of transcriptional regulatory elements, which work in conjunction to generate essential RNA subunits of ribosomes, as well as protecting the region from DNA damage. The role of RNA polymerase III complex binding at the 5S gene on rDNA silencing in the NTS2 region was investigated, both by use of a TY1:MET15 reporter insert and a MET15 gene integration at an endogenous SphI site. It was discovered that Pol III complexes do have an effect on reporter expression in the NTS2 region, though the specific effect was different based on the method …


Differential Preservation Of Endogenous Human And Microbial Dna In Dental Calculus And Dentin, Allison E. Mann, Susanna Sabin, Kirsten Ziesemer, Ashild J. Vagene, Hannes Schroeder, Andrew T. Ozga, Krithivasan Sankaranarayanan, Courtney A. Hofman, James A. Fellows Yates, Domingo C. Salazar-Garcia, Bruno Frohlich, Mark Aldenderfer, Menno Hoogland, Christopher Read, George R. Milner, Anne C. Stone, Cecil M. Lewis Jr., Johannes Krause, Corinne Hofman, Kirsten I. Bos, Christina Warinner Jun 2018

Differential Preservation Of Endogenous Human And Microbial Dna In Dental Calculus And Dentin, Allison E. Mann, Susanna Sabin, Kirsten Ziesemer, Ashild J. Vagene, Hannes Schroeder, Andrew T. Ozga, Krithivasan Sankaranarayanan, Courtney A. Hofman, James A. Fellows Yates, Domingo C. Salazar-Garcia, Bruno Frohlich, Mark Aldenderfer, Menno Hoogland, Christopher Read, George R. Milner, Anne C. Stone, Cecil M. Lewis Jr., Johannes Krause, Corinne Hofman, Kirsten I. Bos, Christina Warinner

Biology Faculty Articles

Dental calculus (calcified dental plaque) is prevalent in archaeological skeletal collections and is a rich source of oral microbiome and host-derived ancient biomolecules. Recently, it has been proposed that dental calculus may provide a more robust environment for DNA preservation than other skeletal remains, but this has not been systematically tested. In this study, shotgun-sequenced data from paired dental calculus and dentin samples from 48 globally distributed individuals are compared using a metagenomic approach. Overall, we find DNA from dental calculus is consistently more abundant and less contaminated than DNA from dentin. The majority of DNA in dental calculus is …


Novel Role Of Prostate Apoptosis Response-4 Tumor Suppressor In B-Cell Chronic Lymphocytic Leukemia, Mary Kathryn Mckenna, Sunil K. Noothi, Sara S. Alhakeem, Karine Z. Oben, Joseph T. Greene, Rajeswaran Mani, Kathryn L. Perry, James P. Collard, Jacqueline R. Rivas, Gerhard C. Hildebrandt, Roger A. Fleischman, Eric B. Durbin, John C. Byrd, Chi Wang, Natarajan Muthusamy, Vivek M. Rangnekar, Subbarao Bondada Jun 2018

Novel Role Of Prostate Apoptosis Response-4 Tumor Suppressor In B-Cell Chronic Lymphocytic Leukemia, Mary Kathryn Mckenna, Sunil K. Noothi, Sara S. Alhakeem, Karine Z. Oben, Joseph T. Greene, Rajeswaran Mani, Kathryn L. Perry, James P. Collard, Jacqueline R. Rivas, Gerhard C. Hildebrandt, Roger A. Fleischman, Eric B. Durbin, John C. Byrd, Chi Wang, Natarajan Muthusamy, Vivek M. Rangnekar, Subbarao Bondada

Microbiology, Immunology, and Molecular Genetics Faculty Publications

Prostate apoptosis response-4 (Par-4), a proapoptotic tumor suppressor protein, is downregulated in many cancers including renal cell carcinoma, glioblastoma, endometrial, and breast cancer. Par-4 induces apoptosis selectively in various types of cancer cells but not normal cells. We found that chronic lymphocytic leukemia (CLL) cells from human patients and from Eµ-Tcl1 mice constitutively express Par-4 in greater amounts than normal B-1 or B-2 cells. Interestingly, knockdown of Par-4 in human CLL-derived Mec-1 cells results in a robust increase in p21/WAF1 expression and decreased growth due to delayed G1-to-S cell-cycle transition. Lack of Par-4 also increased the expression of p21 and …


Epidermal-Specific Deletion Of Tc-Ptp Promotes Uvb-Induced Epidermal Cell Survival Through The Regulation Of Flk-1/Jnk Signaling, Minwoo Baek, Mihwa Kim, Jae Sung Lim, Liza D. Morales, Joselin Hernandez, Srinivas Mummidi, Sarah Williams-Blangero, Ik-Soon Jang, Andrew Tsin, Dae Joon Kim Jun 2018

Epidermal-Specific Deletion Of Tc-Ptp Promotes Uvb-Induced Epidermal Cell Survival Through The Regulation Of Flk-1/Jnk Signaling, Minwoo Baek, Mihwa Kim, Jae Sung Lim, Liza D. Morales, Joselin Hernandez, Srinivas Mummidi, Sarah Williams-Blangero, Ik-Soon Jang, Andrew Tsin, Dae Joon Kim

School of Medicine Publications

UVB exposure can contribute to the development of skin cancer by modulating protein tyrosine kinase (PTK) signaling. It has been suggested that UVB radiation increases the ligand-dependent activation of PTKs and induces PTP inactivation. Our recent studies have shown that T-cell protein tyrosine phosphatase (TC-PTP) attenuates skin carcinogenesis induced by chemical regimens, which indicates its critical role in the prevention of skin cancer. In the current work, we report that TC-PTP increases keratinocyte susceptibility to UVB-induced apoptosis via the downregulation of Flk-1/JNK signaling. We showed that loss of TC-PTP led to resistance to UVB-induced apoptosis in vivo epidermis. We established …


Computational Analysis Of Papionini Evolution Using Alu Insertions, Vallmer Edward Jordan Ii Jun 2018

Computational Analysis Of Papionini Evolution Using Alu Insertions, Vallmer Edward Jordan Ii

LSU Doctoral Dissertations

Alu elements are primate specific retrotransposons that have remained active throughout the course of primate evolution. As a result of this sustained mobilization. Alu elements are present in greater copy number in primate genomes than any other transposable element. An average of over one million Alu elements has been identified in every sequenced haplorrhine genome to date. These characteristics qualify Alu elements as ideal characters for studying evolutionary relationship among primates.

The increasing availability of whole genome sequencing data presents novel challenges and opportunities for comparative genomic analyses. Genomic data is now publicly available for most primate species. Such an …


The Effect Of Sweeteners In Drosophila Melanogaster's Locomotion., Araceli Francisco Jun 2018

The Effect Of Sweeteners In Drosophila Melanogaster's Locomotion., Araceli Francisco

The International Student Science Fair 2018

This research aims to measure how much locomotion is affected in Drosophila melanogaster considering the alimentation. The experiment was divided in a control group, a group fed with natural sugar and another fed with artificial sugar. The diets were prepared based on standard laboratory food (SLF) by varying the sugar. Several generations were grown. The locomotion was measured through monitors with infrared lasers which calculated the number of times the fly passed through it. They were accustomed to a day and night cycle and were kept under observation for a period of 13 days. As a result, the group that …


Snf1 Cooperates With The Cwi Mapk Pathway To Mediate The Degradation Of Med13 Following Oxidative Stress, Stephen D Willis, David C Stieg, Kai Li Ong, Ravina Shah, Alexandra K. Strich, Julianne H Grose, Katrina F Cooper Jun 2018

Snf1 Cooperates With The Cwi Mapk Pathway To Mediate The Degradation Of Med13 Following Oxidative Stress, Stephen D Willis, David C Stieg, Kai Li Ong, Ravina Shah, Alexandra K. Strich, Julianne H Grose, Katrina F Cooper

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Eukaryotic cells, when faced with unfavorable environmental conditions, mount either pro-survival or pro-death programs. The conserved cyclin C-Cdk8 kinase plays a key role in this decision. Both are members of the Cdk8 kinase module that, along with Med12 and Med13, associate with the core Mediator complex of RNA polymerase II. In Saccharomyces cerevisiae, oxidative stress triggers Med13 destruction, which releases cyclin C into the cytoplasm to promote mitochondrial fission and programmed cell death. The SCFGrr1 ubiquitin ligase mediates Med13 degradation dependent on the cell wall integrity pathway, MAPK Slt2. Here we show that the AMP kinase Snf1 activates a second …


A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong Jun 2018

A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong

The International Student Science Fair 2018

Hypertrophic cardiomyopathy (HCM), that clinically manifests as an enlarged heart is a highly prevalent cardiac disorder with propensity towards arrhythmia-induced sudden cardiac death. The mechanism of HCM remains poorly defined, necessitating further understanding of the disease for improved therapeutic strategies. As it is challenging to obtain cardiac biopsies from human subjects, using induced pluripotent stem cells technology, we generated cardiomyocytes (CMs) in a dish from HCM patients. These HCM-CMs presented the clinical manifestation in that they were significantly larger in size in comparison to control (healthy)-CMs. Furthermore, gene expression profiling of cardiac ion channels revealed increased transcripts encoding for calcium …


Lim Protein Ajuba Associates With The Rpa Complex Through Direct Cell Cycle-Dependent Interaction With The Rpa70 Subunit, Sandy Fowler, Pascal Maguin, Sampada Kalan, Diego Loayza Jun 2018

Lim Protein Ajuba Associates With The Rpa Complex Through Direct Cell Cycle-Dependent Interaction With The Rpa70 Subunit, Sandy Fowler, Pascal Maguin, Sampada Kalan, Diego Loayza

Publications and Research

DNA damage response pathways are essential for genome stability and cell survival. Specifically, the ATR kinase is activated by DNA replication stress. An early event in this activation is the recruitment and phosphorylation of RPA, a single stranded DNA binding complex composed of three subunits, RPA70, RPA32 and RPA14. We have previously shown that the LIM protein Ajuba associates with RPA, and that depletion of Ajuba leads to potent activation of ATR. In this study, we provide evidence that the Ajuba-RPA interaction occurs through direct protein contact with RPA70, and that their association is cell cycle-regulated and is reduced upon …


Different Patterns Of Colonization Of Oxalis Alpina In The Sky Islands Of The Sonoran Desert Via Pollen And Seed Flow, Jessica Pérez‐Alquicira, Stephen G. Weller, César A. Domínguez, Francisco E. Molina-Freaner, Olga V. Tsyusko Jun 2018

Different Patterns Of Colonization Of Oxalis Alpina In The Sky Islands Of The Sonoran Desert Via Pollen And Seed Flow, Jessica Pérez‐Alquicira, Stephen G. Weller, César A. Domínguez, Francisco E. Molina-Freaner, Olga V. Tsyusko

Plant and Soil Sciences Faculty Publications

Historical factors such as climatic oscillations during the Pleistocene epoch have dramatically impacted species distributions. Studies of the patterns of genetic structure in angiosperm species using molecular markers with different modes of inheritance contribute to a better understanding of potential differences in colonization and patterns of gene flow via pollen and seeds. These markers may also provide insights into the evolution of reproductive systems in plants. Oxalis alpina is a tetraploid, herbaceous species inhabiting the Sky Island region of the southwestern United States and northern Mexico. Our main objective in this study was to analyze the influence of climatic oscillations …


A Mutation Affecting Polycystin-1 Mediated Heterotrimeric G-Protein Signaling Causes Pkd, Stephen C. Parnell, Brenda S. Magenheimer, Robin L. Maser, Tengis S. Pavlov, Mallory A. Havens, Michelle L. Hastings, Stephen F. Jackson, Christopher J. Ward, Kenneth R. Peterson, Alexander Staruschenko, James P. Calvet Jun 2018

A Mutation Affecting Polycystin-1 Mediated Heterotrimeric G-Protein Signaling Causes Pkd, Stephen C. Parnell, Brenda S. Magenheimer, Robin L. Maser, Tengis S. Pavlov, Mallory A. Havens, Michelle L. Hastings, Stephen F. Jackson, Christopher J. Ward, Kenneth R. Peterson, Alexander Staruschenko, James P. Calvet

Biology Department Faculty Articles

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to forma calcium-permeable receptor-channel complex; however the mechanisms by which they function are almost completely unknown. Most mutations in PKD1 are truncating loss-of-function mutations or affect protein biogenesis, trafficking or stability and reveal very little about the intrinsic biochemical properties or cellular functions of PC1. An ADPKD patient mutation (L4132D or DL), resulting in a single amino acid deletion in a …


Characterization Of The Bioluminescent Symbionts From Ceratioids Collected In The Gulf Of Mexico, Lindsay L. Freed Jun 2018

Characterization Of The Bioluminescent Symbionts From Ceratioids Collected In The Gulf Of Mexico, Lindsay L. Freed

HCNSO Student Theses and Dissertations

Anglerfishes are easily one of the most popular deep-sea creatures due to their menacing appearance, extreme sexual dimorphism, parasitic mating approach, and eye catching bioluminescent lure. Unlike most bioluminescent fishes, which intrinsically generate light, female anglerfishes belonging to nine of the 11 families within the suborder Ceratioidei (deep-sea anglerfishes) have developed a symbiotic relationship with bioluminescent bacteria that are housed within the light organs. Previous molecular work had identified symbionts from two anglerfish species as novel and possibly unculturable taxa (Haygood et al., 1992), but nothing more has been revealed about the bioluminecent symbionts of ceratioids. As part of …


Chronic Lymphocytic Leukemia-Derived Il-10 Suppresses Antitumor Immunity., Sara S Alhakeem, Mary K Mckenna, Karine Z Oben, Sunil K Noothi, Jacqueline R Rivas, Gerhard C Hildebrandt, Roger A Fleischman, Vivek M Rangnekar, Natarajan Muthusamy, Subbarao Bondada Jun 2018

Chronic Lymphocytic Leukemia-Derived Il-10 Suppresses Antitumor Immunity., Sara S Alhakeem, Mary K Mckenna, Karine Z Oben, Sunil K Noothi, Jacqueline R Rivas, Gerhard C Hildebrandt, Roger A Fleischman, Vivek M Rangnekar, Natarajan Muthusamy, Subbarao Bondada

Microbiology, Immunology, and Molecular Genetics Faculty Publications

Chronic lymphocytic leukemia (CLL) patients progressively develop an immunosuppressive state. CLL patients have more plasma IL-10, an anti-inflammatory cytokine, than healthy controls. In vitro human CLL cells produce IL-10 in response to BCR cross-linking. We used the transgenic Eμ-T cell leukemia oncogene-1 (


Complete Genome Sequences Of Paenibacillus Larvae Phages Bn12, Dragolir, Kiel007, Leyra, Likha, Pagassa, Pbl1c, And Tadhana, Jamison K. Walker, Bryan D. Merrill, Jordan A. Berg, Aziza Dhalai, Douglas W. Dingman, Chris P. Fajardo, Kiel Graves, Hunter L. Hill, Jared A. Hilton, Cameron Imahara, Bradley K. Knabe, James Mangohig, Josh Monk, Heejin Mun, Ashley M. Payne, Alicia Salisbury, Casey Stamereilers, Kathie Velez, Andy T. Ward, Donald P. Breakwell, Julianne H. Grose, Sandra Hope, Philippos K. Tsourkas Jun 2018

Complete Genome Sequences Of Paenibacillus Larvae Phages Bn12, Dragolir, Kiel007, Leyra, Likha, Pagassa, Pbl1c, And Tadhana, Jamison K. Walker, Bryan D. Merrill, Jordan A. Berg, Aziza Dhalai, Douglas W. Dingman, Chris P. Fajardo, Kiel Graves, Hunter L. Hill, Jared A. Hilton, Cameron Imahara, Bradley K. Knabe, James Mangohig, Josh Monk, Heejin Mun, Ashley M. Payne, Alicia Salisbury, Casey Stamereilers, Kathie Velez, Andy T. Ward, Donald P. Breakwell, Julianne H. Grose, Sandra Hope, Philippos K. Tsourkas

Life Sciences Faculty Research

We present here the complete genomes of eight phages that infect Paenibacillus larvae, the causative agent of American foulbrood in honeybees. Phage PBL1c was originally isolated in 1984 from a P. larvae lysogen, while the remaining phages were isolated in 2014 from bee debris, honeycomb, and lysogens from three states in the USA.


Genomic Dissection Of Bipolar Disorder And Schizophrenia, Including 28 Subphenotypes, Douglas M. Ruderfer, Stephan Ripke, Andrew Mcquillin, James Boocock, Ney Alliey Rodriguez Jun 2018

Genomic Dissection Of Bipolar Disorder And Schizophrenia, Including 28 Subphenotypes, Douglas M. Ruderfer, Stephan Ripke, Andrew Mcquillin, James Boocock, Ney Alliey Rodriguez

School of Medicine Publications

Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several …


Sources And Fates Of Carbamyl Phosphate: A Labile Energy-Rich Molecule With Multiple Facets., Dashuang Shi, Ljubica Caldovic, Mendel Tuchman Jun 2018

Sources And Fates Of Carbamyl Phosphate: A Labile Energy-Rich Molecule With Multiple Facets., Dashuang Shi, Ljubica Caldovic, Mendel Tuchman

Genomics and Precision Medicine Faculty Publications

Carbamyl phosphate (CP) is well-known as an essential intermediate of pyrimidine and arginine/urea biosynthesis. Chemically, CP can be easily synthesized from dihydrogen phosphate and cyanate. Enzymatically, CP can be synthesized using three different classes of enzymes: (1) ATP-grasp fold protein based carbamyl phosphate synthetase (CPS); (2) Amino-acid kinase fold carbamate kinase (CK)-like CPS (anabolic CK or aCK); and (3) Catabolic transcarbamylase. The first class of CPS can be further divided into three different types of CPS as CPS I, CPS II, and CPS III depending on the usage of ammonium or glutamine as its nitrogen source, and whether


Systematics And Diversification Of The Pantropical Avian Order Coraciiformes, Jenna Merle Mccullough Jun 2018

Systematics And Diversification Of The Pantropical Avian Order Coraciiformes, Jenna Merle Mccullough

Biology ETDs

How and why species diversify is a central theme of evolutionary biology. Species-rich, morphologically diverse, pantropical clades provide rare opportunities to explore questions about drivers of diversification in the tropics. Here, we present the first complete species tree of Coraciiformes (6 families, ~177 species of kingfishers, motmots, bee-eaters, and allies), produced with thousands of ultraconserved elements. We recovered a well-supported tree which shows that there are two clades within Coraciiformes: 1) bee-eaters sister to rollers + ground- rollers and 2) todies sister to motmots + kingfishers. We estimated the biogeographical history of the group, explored bill shape evolution with a …