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

Genetics and Genomics Commons

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

9,131 Full-Text Articles 27,773 Authors 1,733,192 Downloads 288 Institutions

All Articles in Genetics and Genomics

Faceted Search

9,131 full-text articles. Page 1 of 362.

Characterizing The Role Of Pa5189 Of Pseudomonas Aeruginosa In Deletion And Overexpression Mutants, Seh Na Mellick 2024 University of Nebraska at Omaha

Characterizing The Role Of Pa5189 Of Pseudomonas Aeruginosa In Deletion And Overexpression Mutants, Seh Na Mellick

Theses/Capstones/Creative Projects

In the context of rising multidrug resistance in biofilm-forming pathogens like Pseudomonas aeruginosa, this study investigates the role of the understudied transcription factor PA5189 in antibiotic resistance and biofilm formation. PA5189 deletion and overexpression mutants were created in a parent P. aeruginosa strain using pEX18Tc-based recombinant suicide vectors, with genotypic verification of putative triparental conjugants achieved through restriction digestion and PCR. The study revealed that PA5189 overexpression significantly increases resistance to commonly used broad spectrum antibiotics such as ciprofloxacin and imipenem. Additionally, differential expression of PA5189 was found to notably affect biofilm formation, with variations contingent on the nutrient …


Unravelling The Genetic Basis Of Schizophrenia, Clara Casey, John F. Fullard, Roy D. Sleator 2024 Department of Biological Sciences, Munster Technological University, Bishopstown, Cork, Ireland; Center for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States;

Unravelling The Genetic Basis Of Schizophrenia, Clara Casey, John F. Fullard, Roy D. Sleator

Department of Biological Sciences Publications

Neuronal development is a highly regulated mechanism that is central to organismal function in animals. In humans, disruptions to this process can lead to a range of neurodevelopmental phenotypes, including Schizophrenia (SCZ). SCZ has a significant genetic component, whereby an individual with an SCZ affected family member is eight times more likely to develop the disease than someone with no family history of SCZ. By examining a combination of genomic, transcriptomic and epigenomic datasets, large-scale ‘omics’ studies aim to delineate the relationship between genetic variation and abnormal cellular activity in the SCZ brain. Herein, we provide a brief overview of …


Investigating The Mechanisms Of Surface Sensing Using Motility Appendages By Pseudomonas Aeruginosa Pa14, Christopher James Geiger 2024 Dartmouth College

Investigating The Mechanisms Of Surface Sensing Using Motility Appendages By Pseudomonas Aeruginosa Pa14, Christopher James Geiger

Dartmouth College Ph.D Dissertations

Biofilms are surfaced attached communities of cells encased in an extracellular matrix. The transition from free-swimming planktonic cells to a surface attached biofilm begins with cellular changes that occur after surface contact. This process is known as "surface sensing" and the opportunistic pathogen Pseudomonas aeruginosa PA14 uses its two motility appendages, type IV pili (T4P) and a single, polar flagellum to sense and traverse surfaces. The first cellular changes to occur within this organism upon surface contact is an increase in the second messengers cAMP and cdi- GMP. While the genes involved in surface sensing by P. aeruginosa are known, …


Educating Primary Care Providers On Use Of Pharmacogenetic Testing In Pain Management, Providence Sey 2024 Walden University

Educating Primary Care Providers On Use Of Pharmacogenetic Testing In Pain Management, Providence Sey

Walden Dissertations and Doctoral Studies

No abstract provided.


Predicting The Identities Of Su(Met-2) And Met-3 In Neurospora Crassa By Genome Resequencing, Kevin McCluskey, Daren Brown, Erin Bredeweg, Scott E. Baker 2024 Fungal Genetics Stock Center, Kansas State University, Manhattan KS

Predicting The Identities Of Su(Met-2) And Met-3 In Neurospora Crassa By Genome Resequencing, Kevin Mccluskey, Daren Brown, Erin Bredeweg, Scott E. Baker

Fungal Genetics Reports

A significant number of classical genetic Neurospora crassa biochemical mutants remain anonymous, unassociated with a physical genome locus. By utilizing short read next-generation sequencing methods, it is possible to sequence the genomes of mutant strains rapidly and economically for the purpose of identifying genes associated with mutant phenotypes. We have taken this approach to connect genes and mutations to “methionineless” phenotypes in N. crassa.


Methamphetamine-Induced Dna Double-Stranded Breaks: The Impact Of The Dopamine Transporter And Insights Into The Mechanisms Of Dna Damage In Mouse Neuro 2a Cells, Lizette Couto 2024 The Graduate Center, City University of New York

Methamphetamine-Induced Dna Double-Stranded Breaks: The Impact Of The Dopamine Transporter And Insights Into The Mechanisms Of Dna Damage In Mouse Neuro 2a Cells, Lizette Couto

Dissertations, Theses, and Capstone Projects

Methamphetamine (METH) abuse remains a global health concern, with emerging evidence highlighting its genotoxic potential. In the central nervous system METH enters dopaminergic cells primarily through the dopamine transporter (DAT), which controls the dynamics of dopamine (DA) neurotransmission by driving the reuptake of extracellular DA into the presynaptic neuronal cell. Additional effects of METH on the storage of DA in synaptic vesicles lead to the dysregulated cytosolic accumulation of DA. Previous studies have shown that after METH disrupts intracellular vesicular stores of DA, the excess DA in the cytosol is rapidly oxidized. This generates an abundance of reactive oxygen species …


Surveys Of Aphonopelma Hentzi In Missouri: Conservation Efforts Through Population, Genetics, And Habitat Studies, Anderson B. Spencer Mr., Becky Hansis-O'Niell 2024 University of Missouri-St. Louis

Surveys Of Aphonopelma Hentzi In Missouri: Conservation Efforts Through Population, Genetics, And Habitat Studies, Anderson B. Spencer Mr., Becky Hansis-O'Niell

Undergraduate Research Symposium

Aphonopelma hentzi and other tarantula species are greatly understudied organisms. In the Missouri regions there is little knowledge on their mating patterns, gene diversity, or population sizes. The focal glades in this experiment display regional fragmentation, which could prevent tarantulas from traveling and mating between regions of their glades. Due to the lack of knowledge surrounding them, methods for determining gene diversity are harmful to the organism. Our recent work has shown that it is possible to extract genetic information from the molts of burrowing tarantulas. This will allow us to safely determine the lineages and interbreeding patterns of the …


Recovering Ancient Dna Using The Polymerase Chain Reaction, Rose Jennings 2024 University of Missouri, St. Louis

Recovering Ancient Dna Using The Polymerase Chain Reaction, Rose Jennings

Undergraduate Research Symposium

Investigations into aDNA offer a window into the past that modern DNA and paleontological studies alone cannot provide and help address the evolution and connections between hominids, domestication timelines, the analysis of populations over time, and general diversity. Progress in aDNA research has been inherently technology-driven, with modern molecular biology methods, such as the inventions of Polymerase Chain Reaction (PCR) and Next Generation Sequencing (NGS), substantially increasing the analysis possibilities of aDNA. My research this semester has taken me along two parallel paths of investigation: literary research into aDNA and practical exposure to the laboratory techniques used in its analysis. …


Exploring The Evolution Of Callose Synthase In Green Plants, Giovanna Durante 2024 Purdue University

Exploring The Evolution Of Callose Synthase In Green Plants, Giovanna Durante

The Journal of Purdue Undergraduate Research

No abstract provided.


Tail-Tape-Fused Virion And Non-Virion Rna Polymerases Of A Thermophilic Virus With An Extremely Long Tail, Anastasiia Chaban, Leonid Minakhin, Ekaterina Goldobina, Brain Bae, Yue Hao, Sergei Borukhov, Leena Putzeys, Maarten Boon, Florian Kabinger, Rob Lavigne, Kira S Makarova, Eugene V Koonin, Satish K Nair, Shunsuke Tagami, Konstantin Severinov, Maria L Sokolova 2024 Skolkovo Institute of Science and Technology, Moscow

Tail-Tape-Fused Virion And Non-Virion Rna Polymerases Of A Thermophilic Virus With An Extremely Long Tail, Anastasiia Chaban, Leonid Minakhin, Ekaterina Goldobina, Brain Bae, Yue Hao, Sergei Borukhov, Leena Putzeys, Maarten Boon, Florian Kabinger, Rob Lavigne, Kira S Makarova, Eugene V Koonin, Satish K Nair, Shunsuke Tagami, Konstantin Severinov, Maria L Sokolova

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

Thermus thermophilus bacteriophage P23-45 encodes a giant 5,002-residue tail tape measure protein (TMP) that defines the length of its extraordinarily long tail. Here, we show that the N-terminal portion of P23-45 TMP is an unusual RNA polymerase (RNAP) homologous to cellular RNAPs. The TMP-fused virion RNAP transcribes pre-early phage genes, including a gene that encodes another, non-virion RNAP, that transcribes early and some middle phage genes. We report the crystal structures of both P23-45 RNAPs. The non-virion RNAP has a crab-claw-like architecture. By contrast, the virion RNAP adopts a unique flat structure without a clamp. Structure and sequence comparisons of …


Computational Analysis Of Cas Proteins Unlocks New Potential In Hiv-1 Targeted Gene Therapy, Will Dampier, Rachel Berman, Michael Nonnemacher, Brian Wigdahl 2024 Thomas Jefferson University

Computational Analysis Of Cas Proteins Unlocks New Potential In Hiv-1 Targeted Gene Therapy, Will Dampier, Rachel Berman, Michael Nonnemacher, Brian Wigdahl

Kimmel Cancer Center Faculty Papers

Introduction: The human immunodeficiency virus type 1 (HIV-1) pandemic has been slowed with the advent of anti-retroviral therapy (ART). However, ART is not a cure and as such has pushed the disease into a chronic infection. One potential cure strategy that has shown promise is the Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas gene editing system. It has recently been shown to successfully edit and/or excise the integrated provirus from infected cells and inhibit HIV-1 in vitro, ex vivo, and in vivo. These studies have primarily been conducted with SpCas9 or SaCas9. However, additional Cas proteins are …


Diving At High Altitude: O2 Transport And Utilization In The Ruddy Duck And Torrent Duck In The Andes, Kevin G. McCracken, Graham R. Scott, Luis Alza, Andrea Astie, Ciska Bakkeren, Emil Bautista, Mariana Bulgarella, Rebecca Cheek G. Cheek, Beverly A. Chua, Neal J. Dawson, Alexis Diaz, Catherine M. Ivy, Peter B. Frappell, Cecilia Kopuchian, Sabine L. Laguë, John N. Maina, Violeta Muñoz-Fuentes, Elizabeth R. Schell, Matthew M. Smith, Ryan J. Sprenger, Pablo L. Tubaro, Elizabeth R. Schell, Matthew M. Smith, Ryan J. Sprenger, Pablo L. Tubaro, Thomas Valqui, Roy E. Weber, Daniela Wilner, Robert E. Wilson, Julia M. York, William K. Milsom 2024 Department of Biology, Department of Marine Biology and Ecology at the Rosenstiel School of Marine, Atmospheric, and Earth Science, and Human Genetics and Genomics at the Miller School of Medicine, University of Miami; University of Alaska Museum, University of Alaska Fairbanks; Institute of Arctic Biology and Department of Biology and Wildlife, University of Alaska Fairbanks

Diving At High Altitude: O2 Transport And Utilization In The Ruddy Duck And Torrent Duck In The Andes, Kevin G. Mccracken, Graham R. Scott, Luis Alza, Andrea Astie, Ciska Bakkeren, Emil Bautista, Mariana Bulgarella, Rebecca Cheek G. Cheek, Beverly A. Chua, Neal J. Dawson, Alexis Diaz, Catherine M. Ivy, Peter B. Frappell, Cecilia Kopuchian, Sabine L. Laguë, John N. Maina, Violeta Muñoz-Fuentes, Elizabeth R. Schell, Matthew M. Smith, Ryan J. Sprenger, Pablo L. Tubaro, Elizabeth R. Schell, Matthew M. Smith, Ryan J. Sprenger, Pablo L. Tubaro, Thomas Valqui, Roy E. Weber, Daniela Wilner, Robert E. Wilson, Julia M. York, William K. Milsom

Occasional Papers of the Museum of Natural Science, Louisiana State University

Hypoxia and cold temperatures create unique physiological challenges for high-altitude organisms that can vary depending on lifestyle. While nearly all studies of air-breathing animals at high altitude are from terrestrial species, species that breath-hold dive underwater at high altitude encounter a very different set of selective pressures influencing their phenotype. The goal of this publication is to highlight the changes in O2 transport and utilization in high-altitude diving birds relative to divers at sea level, and the extent to which these changes are qualitatively distinct from phenotypic changes in non-diving species at high altitude. For example, while high capacities for …


Multi-Cancer Early Detection Testing (Mced), Ora K Gordon, Brad Bott, Nanor Parseghian, Paul Psychogios, Kimberly K Childers, Sandra Brown 2024 Division of Genetics, Providence John Wayne Cancer Institute, Santa Monica, California

Multi-Cancer Early Detection Testing (Mced), Ora K Gordon, Brad Bott, Nanor Parseghian, Paul Psychogios, Kimberly K Childers, Sandra Brown

Articles, Abstracts, and Reports

No abstract provided.


Identification And Characterization Of Two Novel Kcnh2 Mutations Contributing To Long Qt Syndrome, Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo 2024 Old Dominion University

Identification And Characterization Of Two Novel Kcnh2 Mutations Contributing To Long Qt Syndrome, Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo

Electrical & Computer Engineering Faculty Publications

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes. We performed associated multiscale computer simulations to elucidate the arrhythmogenic potentials of the KCNH2 mutations. Genetic screening of the first and second index patients revealed a heterozygous missense mutation in KCNH2, resulting in an amino acid change (P632L) in the …


Fused In Sarcoma Regulates Glutamate Signaling And Oxidative Stress Response, Chiong-Hee Wong, Abu Rahat, Howard C Chang 2024 MacKay Memorial Hospital, Taiwan

Fused In Sarcoma Regulates Glutamate Signaling And Oxidative Stress Response, Chiong-Hee Wong, Abu Rahat, Howard C Chang

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

Mutations in fused in sarcoma (fust-1) are linked to ALS. However, how these ALS causative mutations alter physiological processes and lead to the onset of ALS remains largely unknown. By obtaining humanized fust-1 ALS mutations via CRISPR-CAS9, we generated a C. elegans ALS model. Homozygous fust-1 ALS mutant and fust-1 deletion animals are viable in C. elegans. This allows us to better characterize the molecular mechanisms of fust-1-dependent responses. We found FUST-1 plays a role in regulating superoxide dismutase, glutamate signaling, and oxidative stress. FUST-1 suppresses SOD-1 and VGLUT/EAT-4 in the nervous system. FUST-1 also regulates synaptic AMPA-type glutamate receptor …


Population Screening For High-Risk Patient Identification Partnership With Care-Comprehensive Assessment, Risk, And Education., Ora K Gordon, Brad Bott, Nanor Parseghian, Kimberly K Childers, Sandra Brown 2024 Division of Genetics, Providence John Wayne Cancer Institute, Santa Monica, California

Population Screening For High-Risk Patient Identification Partnership With Care-Comprehensive Assessment, Risk, And Education., Ora K Gordon, Brad Bott, Nanor Parseghian, Kimberly K Childers, Sandra Brown

Articles, Abstracts, and Reports

No abstract provided.


Model-Based Deep Autoencoders For Clustering Single-Cell Rna Sequencing Data With Side Information, Xiang Lin 2023 New Jersey Institute of Technology

Model-Based Deep Autoencoders For Clustering Single-Cell Rna Sequencing Data With Side Information, Xiang Lin

Dissertations

Clustering analysis has been conducted extensively in single-cell RNA sequencing (scRNA-seq) studies. scRNA-seq can profile tens of thousands of genes' activities within a single cell. Thousands or tens of thousands of cells can be captured simultaneously in a typical scRNA-seq experiment. Biologists would like to cluster these cells for exploring and elucidating cell types or subtypes. Numerous methods have been designed for clustering scRNA-seq data. Yet, single-cell technologies develop so fast in the past few years that those existing methods do not catch up with these rapid changes and fail to fully fulfil their potential. For instance, besides profiling transcription …


Dna Methylation-Based Epigenetic Biomarkers In Cell-Type Deconvolution And Tumor Tissue Of Origin Identification, Ze Zhang 2023 Dartmouth College

Dna Methylation-Based Epigenetic Biomarkers In Cell-Type Deconvolution And Tumor Tissue Of Origin Identification, Ze Zhang

Dartmouth College Ph.D Dissertations

DNA methylation is an epigenetic modification that regulates gene expression and is essential to establishing and preserving cellular identity. Genome-wide DNA methylation arrays provide a standardized and cost-effective approach to measuring DNA methylation. When combined with a cell-type reference library, DNA methylation measures allow the assessment of underlying cell-type proportions in heterogeneous mixtures. This approach, known as DNA methylation deconvolution or methylation cytometry, offers a standardized and cost-effective method for evaluating cell-type proportions. While this approach has succeeded in discerning cell types in various human tissues like blood, brain, tumors, skin, breast, and buccal swabs, the existing methods have major …


Using In Silico Tools To Analyze The 5ʹ Untranslated Regions Of The Alcohol Dehydrogenase Gene From Arabidopsis Thaliana And Omega Sequence, Reza Mohammadhassan, Tina Asadishad 2023 Plant Science Department, Amino Techno Gene Private Virtual Institute, Tehran 1495845983, Iran

Using In Silico Tools To Analyze The 5ʹ Untranslated Regions Of The Alcohol Dehydrogenase Gene From Arabidopsis Thaliana And Omega Sequence, Reza Mohammadhassan, Tina Asadishad

Makara Journal of Science

The 5ʹ ends of protein-encoding genes contain 5ʹ untranslated regions (5ʹUTRs), which can effectively participate in regulating gene expression. The 5ʹUTRs of Arabidospis thaliana–derived alcohol dehydrogenase gene (AtADH) and omega (Ω) sequence from tobacco mosaic virus (TMV) are the most effective enhancers in biotechnology. In this study, bioinformatics techniques were employed to analyze the characteristics of the above sequences. After 5ʹUTR sequence collection, the inner ribosome entrance sites; small RNA (sRNA) target sequences; nucleotide contents; and upstream start and stop codons, ORFs, and coding DNA sequences of the Ω sequence and AtADH 5ʹUTR were identified. Moreover, the …


Investigating The Impact Of Transcription On Mutation Rates, Sarah Patterson 2023 Mississippi State University

Investigating The Impact Of Transcription On Mutation Rates, Sarah Patterson

Theses and Dissertations

tRNA genes are highly transcribed and perform one of the most fundamental cellular functions. Although a universal pattern observed across all three domains of life is that highly transcribed genes tend to evolve slowly, tRNA genes have been shown previously to evolve rapidly. This rapid sequence evolution could result from relaxed selection, increased mutation rate, or a combination of both. Here, we use mutation-accumulation line sequencing data to show that tRNA genes accumulate more mutations than other gene types. Our results indicate that this elevated mutation rate is a consequence of both elevated transcription-associated mutagenesis and a lack of transcription-coupled …


Digital Commons powered by bepress