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Articles 91 - 120 of 1163

Full-Text Articles in Genomics

Genome Analysis Of Aeromonas Hydrophila Strain S14-452, Zarin Tasnim Raya Apr 2025

Genome Analysis Of Aeromonas Hydrophila Strain S14-452, Zarin Tasnim Raya

Undergraduate Research Conference

The Aeromonas hydrophila are gram-negative, opportunistic bacteria that can infect many groups of organisms, mainly fish and amphibians. In channel catfish, A. hydrophila causes fatal bacterial septicemia, leading to massive economic losses for catfish farmers. Therefore, an understanding of its genome will aid in identifying its virulence factors, metabolic pathways and survival mechanisms within the host. This study details the draft genome sequence of A. hydrophila strain S14-452, isolated from channel catfish exhibiting bacterial septicemia during a disease outbreak at a catfish farm.

A. hydrophila strain S14-452 was sequenced using the Illumina iSeq 100 System. Assembly was performed with SPAdes, …


Hierarchical Lineage Tracing To Unravel Mechanisms Of Cancer Treatment Resistance, Rachel Danielle Saxe Apr 2025

Hierarchical Lineage Tracing To Unravel Mechanisms Of Cancer Treatment Resistance, Rachel Danielle Saxe

Dartmouth College Ph.D Dissertations

Cancer cells adapt to treatment, leading to the emergence of clones that are more aggressive and resistant to anti-cancer therapies. We have a limited understanding of the development of treatment resistance as we lack technologies to map the evolution of cancer under the selective pressure of treatment. To address this, we developed a hierarchical, dynamic lineage tracing method called FLARE (Following Lineage Adaptation and Resistance Evolution). We use this technique to track the progression of acute myeloid leukemia (AML) cell lines through exposure to Cytarabine (AraC), a front-line treatment in AML, in vitro and in vivo. We map distinct cellular …


Analysis Of Chromatin Accessibility Changes In Endothelial Cells Exposed To Plastic Contaminants, Mikhail Y. Salnikov, Carly Boye, David B. Witonsky, Gabrielle Garlicki, Adnan Alazizi, Francesca Luca, Roger Pique-Regi Apr 2025

Analysis Of Chromatin Accessibility Changes In Endothelial Cells Exposed To Plastic Contaminants, Mikhail Y. Salnikov, Carly Boye, David B. Witonsky, Gabrielle Garlicki, Adnan Alazizi, Francesca Luca, Roger Pique-Regi

Medical Student Research Symposium

Degradation products from everyday plastic products are known to bioaccumulate and have also been shown to contaminate drinking water and food sources. BPA and phthalates are endocrine disrupting chemicals and plastic components that have previously been associated with endothelial cell dysfunction, atherosclerotic and other adverse cardiovascular events. However, there is a limited understanding of the mechanisms underlying these associations, such as genome-wide chromatin accessibility changes in endothelial cells exposed to these compounds. The purpose of this study is to explore genome-wide changes in chromatin accessibility associated with plastic exposure, as well as the discovery of transcription factor binding motifs dysregulated …


Differential Gene Coexpression In 16p11.2 Autism Spectrum Disorder, Joseph Patacsil Apr 2025

Differential Gene Coexpression In 16p11.2 Autism Spectrum Disorder, Joseph Patacsil

Senior Theses

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been associated with several genetic factors. One of these factors is a mutation of the 16p11.2 region on chromosome 16, in which both deletions and duplications have been strongly associated with ASD. KCTD13 is a gene in the 16p11.2 gene locus that has recently been shown to influence brain development and is also associated with ASD. This study analyzes the differential gene expression and gene pathways of these different phenotypes. KCTD13 deletion had a significant up-regulation effect on genes and shares similar pathways to the 16p11.2 duplication mutation. Mutations in …


Differential Impacts On Proteoglycan Expression In The Response To Lens Wounding In Reparative And Pro-Fibrotic Microenvironments, Janice L Walker, A. Sue Menko Apr 2025

Differential Impacts On Proteoglycan Expression In The Response To Lens Wounding In Reparative And Pro-Fibrotic Microenvironments, Janice L Walker, A. Sue Menko

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Ex vivo lens epithelial explant cultures created through a technique that mimics cataract surgery provided an ideal model with which to compare the impacts on proteoglycan expression in the response to wounding in both reparative promoting and pro-fibrotic microenvironments. On their native basement membrane capsule the injured lens epithelium undergoes regenerative repair, with the wound closing within a few days. Their migration across the wound area is led by a population of activated lens resident immune cells. The same leader cell population also directs the wounded epithelium to migrate off the outside edges of the lens explant across the surrounding …


Crispr-Induced Mutagenesis Of Arabidopsis Thaliana Gene Apetala3, Hazel Frans, Tara Phelps-Durr Mar 2025

Crispr-Induced Mutagenesis Of Arabidopsis Thaliana Gene Apetala3, Hazel Frans, Tara Phelps-Durr

SACAD: Scholarly Activities

This project aims to create CRISPR-CAS9 mutations in the APETELA3 (AP3) gene of the model plant Arabidopsis thaliana. AP3 is a class B gene critical to the petal and stamen development of Arabidopsis flowers. AP3 is defined in a MADS domain, which binds directly to DNA and may be responsible for the expression of the CaRG-box genes. AP3 works in conjunction with PISTILLATA (PI), AGAMOUS (AG), APETALA1 (AP1), and SEPALLATA (SEP) genes to specify the development in the second and third whorls of the flower. While several alleles of AP3 already exist, these alleles are strong alleles that knockout gene …


Screening For Penicillin G Acylase (Pga)-Producing Bacteria And Gene Cloning Using Degenerate Oligonucleotide Primed-Pcr, Masdalifah Masdalifah, Sri Rezeki Wulandari, Gabriela Christy Sabbathini, Maria Ulfah, Dini Achnafani, Ahmad Wibisana, Feronika Heppy Sriherfyna, Is Helianti, Niknik Nurhayati Mar 2025

Screening For Penicillin G Acylase (Pga)-Producing Bacteria And Gene Cloning Using Degenerate Oligonucleotide Primed-Pcr, Masdalifah Masdalifah, Sri Rezeki Wulandari, Gabriela Christy Sabbathini, Maria Ulfah, Dini Achnafani, Ahmad Wibisana, Feronika Heppy Sriherfyna, Is Helianti, Niknik Nurhayati

Makara Journal of Science

The growing concern over antibiotic resistance has driven global efforts to explore innovative solutions, including the use of Penicillin G acylase (PGA) to produce semisynthetic β-lactam antibiotics. This study screened four potential in-tracellular PGA-producing bacteria: Alcaligenes faecalis InaCC B444 (AfPGA), Kluyvera cryocrescens InaCC B850 (KcPGA), Providencia rettgeri InaCC B25 (Pr25PGA), and P. rettgeri InaCC B466 (Pr466PGA). Penicillin G Acylase encoding genes (pgas) were isolated from them using a Degenerate Oligonucleotide Primed-PCR (DOP-PCR) approach and sequenced. Microbiological assays confirmed all tested crude extracts to exhibit inhibitory effects. Penicillin G was used for evaluating hydrolytic activity and 6-Amino Penicillanic Acid (6-APA) coupled …


Emerging Technologies For Forensic Genetic Identification, Lilly Llanos Mar 2025

Emerging Technologies For Forensic Genetic Identification, Lilly Llanos

Senior Honors Theses

There are many new innovations in forensic science that are being developed for the identification of biological evidence. These techniques include next-generation DNA sequencing, DNA phenotyping, and forensic genetic genealogy. This thesis will explore each, as well as newer applications of proteomics. The methodologies, reliability, practicality of cost and training, moral implications, and past research of each will be discussed. Finally, some ideas for future research and steps to drive growth and greater understanding will be suggested. This will encourage further innovations and the increased acceptance of forensic evidence in court. Each method was found to have both advantages and …


Antibiotic Resistome, Mobile Genetic Elements, And Virulence Profile Of Multidrug-Resistant Enterobacteriaceae Isolated From Healthy Philippine Native Chicken As Revealed By Analysis Of Whole Genome Sequence, Alvin P. Jimenez, Grignard James R. Buday, Rina B. Opulencia Mar 2025

Antibiotic Resistome, Mobile Genetic Elements, And Virulence Profile Of Multidrug-Resistant Enterobacteriaceae Isolated From Healthy Philippine Native Chicken As Revealed By Analysis Of Whole Genome Sequence, Alvin P. Jimenez, Grignard James R. Buday, Rina B. Opulencia

The Philippine Agricultural Scientist

Gram-negative bacteria, particularly Enterobacteriaceae, acquire antibiotic resistance via horizontal transmission of resistance genes in poultry farms that give rise to multidrug-resistant (MDR) strains. The presence of MDR strains that are potentially pathogenic and zoonotic poses a concern to animal and human health. The aims of this study were to isolate MDR, potentially pathogenic Enterobacteriaceae from Philippine native chicken (PNC) and to analyze the genome of a representative MDR isolate to gain insights into the mechanisms, acquisition, and transmissibility of antibiotic resistance genes (ARGs). Cloacal swabs from PNC were used to isolate putative Salmonella that were then tested for antimicrobial …


Identification Of Novel Argonaute Proteins Using A Metagenomic Mining Approach, Lobna Abdallah Ghonaim Feb 2025

Identification Of Novel Argonaute Proteins Using A Metagenomic Mining Approach, Lobna Abdallah Ghonaim

Theses and Dissertations

Gene editing is one of the most promising tools in science. It enables precise modifications of an organism's genetic material. Metagenomics is considered a powerful tool that unlocks the broad genetic potential found in uncultured microbial communities. Exploring the genetic diversity of uncultured microbial communities helps identify novel functional proteins with unique properties and make the best use of these diverse microbial ecosystems.

We developed and employed a metagenomic-based approach to mine more than 1000 metagenomes for prokaryotic argonaute proteins (pAgos), a potential gene editing machinery encoded in bacterial and archaeal genomes. Our workflow involved strict quality control, sequence assembly, …


The Role Of Secondary And Tertiary Structure In The Cap-Independent Translation Of Fgf-9 And Hif-1-Alpha, Amanda Michelle Whittaker Feb 2025

The Role Of Secondary And Tertiary Structure In The Cap-Independent Translation Of Fgf-9 And Hif-1-Alpha, Amanda Michelle Whittaker

Dissertations, Theses, and Capstone Projects

Under normoxic conditions, eukaryotes initiate translation of RNA through eIF4E recognition of the 5’ cap. However, under cellular stress, eukaryotic translation must be initiated through a 4E-independent, or “cap-independent” mechanism, involving eukaryotic initiation factor 4G (eIF4G) binding directly to the 5’ untranslated regions (5’ UTR) of the RNA. eIF4G binding then recruits the ribosome to the transcript. While this mechanism is useful for translation of apoptotic transcripts and transcripts involved in cell survival, cap-independent translation is also utilized by oncogenic RNA for tumorigenesis. Previous work by our lab and others has categorized this recruitment and initiation mechanism as either internal-ribosome-entry-site …


Gene Model For The Ortholog Of Glys In Drosophila Simulans, Madeline L. Gruys, Madison A. Sharp, Zachary Lill, Caroline Xiong, Amy T. Hark, James J. Youngblom, Chinmay P. Rele, Laura K. Reed Jan 2025

Gene Model For The Ortholog Of Glys In Drosophila Simulans, Madeline L. Gruys, Madison A. Sharp, Zachary Lill, Caroline Xiong, Amy T. Hark, James J. Youngblom, Chinmay P. Rele, Laura K. Reed

Faculty Journal Articles

Gene model for the ortholog of glycogen synthase ( Glys ) in the Drosophila simulans May 2017 (Princeton ASM75419v2/DsimGB2) Genome Assembly (GenBank Accession: GCA_000754195.3 ). This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.


Snake Venoms As Models For Understanding The Origins And Evolution Of Gene Regulatory Networks, Siddharth S. Gopalan Jan 2025

Snake Venoms As Models For Understanding The Origins And Evolution Of Gene Regulatory Networks, Siddharth S. Gopalan

Biology Dissertations - Archive

Understanding the relationship between genotype and phenotype is a fundamental goal of biology. However, the vastly complex nature of eukaryotic gene regulation can make deriving precise relationships between genotype and phenotype challenging. The gene regulatory architecture of snake venom systems provide an opportunity to study this problem in a phenotypic system with immense variation in phenotypes and the underlying genetics. Using a set of integrated functional genomic approaches with snake venoms as a central model, in this dissertation, I provide several examples of the regulatory mechanisms by which diversity in phenotypes arises. Specifically, I identify how gene expression heterogeneity between …


Genetic Analysis Of Methionine Restriction-Associated Mitochondrial Unfolded Protein Response Signaling., Josh D. Dodge Jan 2025

Genetic Analysis Of Methionine Restriction-Associated Mitochondrial Unfolded Protein Response Signaling., Josh D. Dodge

Biology Dissertations - Archive

The lifespan of an organism is dictated by various genetic and environmental factors. One such determinant is the health of mitochondria which are organelles that mediate various critical cell functions including a significant role in generating the vast supply of cellular energy. Indeed, the gradual decline of mitochondrial function is believed to be a hallmark and possible cause of aging. Paradoxically, mild mitochondrial dysfunction early in life extends lifespan in various model organisms. Cells use diverse approaches to promote mitochondrial homeostasis, including the transcriptional reprogramming of cells by mitochondrial unfolded protein response (UPRmt) to mitigate mitochondrial stress. Consistently, UPRmt activation …


Assessment Of The Genetic Population Structure And Extent Of Clonality In A Rare Serpentine Endemic, Lathyrus Biflorus T.W. Nelson & J.P. Nelson (Fabaceae), Using Ddrad Sequencing, Ashley Dickinson Jan 2025

Assessment Of The Genetic Population Structure And Extent Of Clonality In A Rare Serpentine Endemic, Lathyrus Biflorus T.W. Nelson & J.P. Nelson (Fabaceae), Using Ddrad Sequencing, Ashley Dickinson

Cal Poly Humboldt theses and projects

Lathyrus biflorus, or the two-flowered pea, is a rare herbaceous perennial restricted to a single population in Northern California. The species is considered critically imperiled but remains unprotected under state or federal endangered species acts. Despite its rarity, little is known about its life history, reproductive biology, or genetic diversity. Using genome-wide reduced representation sequencing, this study aimed to address these gaps by investigating the molecular evidence of clonality, the number and diversity of genets (unique genetic individuals which can be made up of one or many clonal units or ramets), and overall genetic health of the population. My …


Investigating The Dna-Binding Role Of Tbp1 In Toxoplasma Gondii: Expression And Characterization Of A Recombinant Protein, Madison T. Jeckell Jan 2025

Investigating The Dna-Binding Role Of Tbp1 In Toxoplasma Gondii: Expression And Characterization Of A Recombinant Protein, Madison T. Jeckell

Honors Theses and Capstones

Toxoplasma gondii is an obligate intracellular parasite with a complex life cycle and an unusual transcriptional machinery compared to other eukaryotes. Unlike most organisms, Toxoplasma lacks multiple well-conserved promoter motifs and has multiple TATA-binding proteins (TBPs), including TBP1, whose function in DNA binding and transcription regulation is poorly understood. This study aimed to generate and express a recombinant TBP1 protein from Toxoplasma to enable future DNA-binding assays and motif identification. Using RT-PCR, the TgTBP1 gene was amplified and cloned into a pGEX vector to produce a GST-tagged protein. The recombinant plasmid was transformed into E. coli BL21 cells, and protein …


Role Of Chemotype In Aggressiveness, Toxicity, And Competitive-Ness Of Fusarium Graminearum On Wheat, Simran Goyal Jan 2025

Role Of Chemotype In Aggressiveness, Toxicity, And Competitive-Ness Of Fusarium Graminearum On Wheat, Simran Goyal

Theses and Dissertations--Plant Pathology

Fusarium Head Blight (FHB) of wheat, caused by the fungus Fusarium graminearum, is a devastating disease that led to epidemics in the U.S. during the 1990s, resulting in economic losses exceeding $2.6 billion. Typical symptoms include bleached spikelets and shriveled grains, often contaminated with trichothecene mycotoxins that make them unsafe for food or feed. FHB severity and mycotoxin production are influenced by a complex interplay between host genotype, environmental factors, and pathogen genotype. Integrated management practices that include the use of more resistant cultivars, crop rotation, and fungicide applications help to reduce disease incidence and severity. Disease forecasting models …


‘Who’S Your Daddy?’: Ddradseq Parentage In Broodstock-Offspring Pairs Of Diadema Antillarum In A Population Restoration Initiative, Bianca R. Rosendahl Jan 2025

‘Who’S Your Daddy?’: Ddradseq Parentage In Broodstock-Offspring Pairs Of Diadema Antillarum In A Population Restoration Initiative, Bianca R. Rosendahl

Undergraduate Scholarship and Creative Works

In the early 1980s Diadema antillarum, or the long-spined urchin, was hit by a catastrophic mass mortality event across the western Atlantic and Gulf of Mexico, inclusive of the Florida Keys. The cause of this die-off event was likely triggered by a pathogen or environmental stressor that decimated native populations by up to 98%. The species has not yet fully recovered and is struggling with recruitment success which is why it may benefit from an ex-situ recovery program. In this study, I used single nucleotide polymorphisms (SNPs) to identify genetic variation and analyze parentage in a captive population of …


A Bayesian Deep Segmentation Framework For Glioblastoma Tumor Segmentation Using Follow-Up Mris, Tanjida Kabir, Kang-Lin Hsieh, Luis Nunez, Yu-Chun Hsu, Juan C Rodriguez Quintero, Octavio Arevalo, Kangyi Zhao, Jay-Jiguang Zhu, Roy F Riascos, Mahboubeh Madadi, Xiaoqian Jiang, Shayan Shams Jan 2025

A Bayesian Deep Segmentation Framework For Glioblastoma Tumor Segmentation Using Follow-Up Mris, Tanjida Kabir, Kang-Lin Hsieh, Luis Nunez, Yu-Chun Hsu, Juan C Rodriguez Quintero, Octavio Arevalo, Kangyi Zhao, Jay-Jiguang Zhu, Roy F Riascos, Mahboubeh Madadi, Xiaoqian Jiang, Shayan Shams

Faculty, Staff and Student Publications

Background: Glioblastoma (GBM) is the most common malignant brain tumor with an abysmal prognosis. Since complete tumor cell removal is impossible due to the infiltrative nature of GBM, accurate measurement is paramount for GBM assessment. Preoperative magnetic resonance images (MRIs) are crucial for initial diagnosis and surgical planning, while follow-up MRIs are vital for evaluating treatment response. The structural changes in the brain caused by surgical and therapeutic measures create significant differences between preoperative and follow-up MRIs. In clinical research, advanced deep learning models trained on preoperative MRIs are often applied to assess follow-up scans, but their effectiveness in this …


Genomic Epidemiology Of Staphylococcus Aureus Sequence-Type 72, Sachitaa Senthilkumar Jan 2025

Genomic Epidemiology Of Staphylococcus Aureus Sequence-Type 72, Sachitaa Senthilkumar

Honors Undergraduate Theses

Staphylococcus aureus (S. aureus, SA) is a gram-positive bacterial colonizer and pathogen commonly carried on the skin and in the anterior nares of humans. SA colonization may lead to a variety of non-invasive (e.g., skin and soft tissue infections, SSTIs) and invasive (e.g., bacteremia and osteomyelitis) infections. The SA population is comprised of multiple lineages that can be delineated through multi-locus sequence typing (MLST), which compares nucleotide sequences within seven housekeeping genes. Strains belonging to an MLST share a common evolutionary history and phenotypic characteristics like antibiotic resistance or virulence. As a result, the epidemiology of lineages can be …


Computational Tools For Protein Classification In Metagenomes, Fawad Ullah Jan 2025

Computational Tools For Protein Classification In Metagenomes, Fawad Ullah

Dissertations, Master's Theses and Master's Reports

Advances in genomic sequencing have dramatically increased the amount and the speed at which genomic data is being generated. These technological advances have enabled the ability to profile the genetic information of organisms and communities at unprecedented scales. Many methods have been developed to identify and classify genes within these datasets. However, many generic pipelines for gene annotation struggle to accurately predict specific protein classes that may not be represented in their databases. Two major challenges exist for classification of specific protein classes in metagenomic databases. The first is the fact that many metagenomic assemblies are highly fragmented with many …


Characterizing Somatic Variants In Nanopore Data With Machine Learning, Shwethal Sayeeram Trikannad Jan 2025

Characterizing Somatic Variants In Nanopore Data With Machine Learning, Shwethal Sayeeram Trikannad

Master's Projects

Oxford Nanopore Technology (ONT) is a popular long-read sequencer in genomics. However, its high base-calling error rate produces several sequencing artifacts. Detection of somatic variants in ONT sequenced tumor-normal samples remains challenging due to low frequencies. In this study, machine learning was applied to a dataset created by benchmarking ClairS output against HCC1395 and colo829 truth sets to classify variants and artifacts. Relevant features were engineered from sequence context and variant site characteristics to model artifact profiles. HistGradientBoostingClassifier achieved 0.876950 accuracy, outperforming all other models. Variant quality was the top predictor with an aggregate accuracy of over 85%. This work …


Phylogenetic Analysis Of Metabolic Enzymes In Hypoxic/Anoxic Conditions In Cetaceans And Cancer, Samerna A. Masih Jan 2025

Phylogenetic Analysis Of Metabolic Enzymes In Hypoxic/Anoxic Conditions In Cetaceans And Cancer, Samerna A. Masih

Electronic Theses & Dissertations (2024 - present)

Cancer cells often exhibit a Warburg-like metabolism, which includes increased fatty acid synthesis and storage that help them survive in hypoxic conditions. This shift is marked by the heightened synthesis and accumulation of fatty acids, acting as a survival mechanism in low-oxygen environments (Baumann et al., 2016). Interestingly, deep-diving whales may utilize a similar metabolic pathway to produce wax esters during their prolonged dives.

Our study focused on exploring the genetic and metabolic similarities between breast cancer cells and deep-diving whales, using computational analyses to investigate lipid metabolism genes. We looked for evolutionarily conserved variations that might reveal adaptive mechanisms …


Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor Jan 2025

Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor

Faculty, Staff and Students Publications

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma). Overexpression of ZIC1 suppresses the growth of group 3 medulloblastoma models, whereas it promotes the proliferation of SHH medulloblastoma precursor cells. SHH medulloblastoma ZIC1 mutants show increased activity versus wild-type ZIC1, whereas G4 medulloblastoma …


Analysis Of Differential Gene Expression In Androgen-Independent Clones Derived From The Mycap Pca Cell Line, Jessie L. Tignor, Melanie Sinanian, Richard Inho Joh, David Gewirtz, Jason Reed Jan 2025

Analysis Of Differential Gene Expression In Androgen-Independent Clones Derived From The Mycap Pca Cell Line, Jessie L. Tignor, Melanie Sinanian, Richard Inho Joh, David Gewirtz, Jason Reed

Undergraduate Research Posters

Androgen deprivation therapy (ADT) is a primary treatment strategy for prostate cancer (PCa), yet many tumors eventually develop androgen independence, leading to treatment resistance. To investigate the molecular changes underlying this transition, we analyzed differential gene expression in four androgen-independent (AI) clones derived from the Myc-CaP prostate cancer cell line using RNA sequencing. Gene expression profiles were compared to the parental Myc-CaP line, and differentially expressed genes (DEGs) were identified using DESeq2 and edgeR. The AI clones exhibited significant downregulation of senescence-associated genes, including Ezh2 and lamin B1, suggesting a loss of senescence-related chromatin repression. Additionally, upregulation of Wnt pathway …


Methods In Statistics, Machine Learning, And Deep Learning For Combining Multi-Omics Dataset, Md Mutasim Billah Jan 2025

Methods In Statistics, Machine Learning, And Deep Learning For Combining Multi-Omics Dataset, Md Mutasim Billah

Dissertations, Master's Theses and Master's Reports

Transcriptome-wide association studies (TWAS) have emerged as a powerful strategy to bridge genome-wide association studies (GWAS) with gene regulatory mechanisms by integrating genotypic data with gene expression data. While early TWAS methods typically rely on linear models and single-tissue expression references, recent advances underscore the need for flexible, multi-tissue approaches that can capture heterogeneous regulatory architectures and tissue-specific expression patterns. This dissertation introduces a three‑part research project that advances multi‑tissue transcriptome‑wide association studies (TWAS) along complementary axes of methodology, statistical power, and modelling flexibility.

In chapter One, TWAS‑CTL introduces a two‑stage cross‑tissue learner that trains any user‑chosen single‑tissue imputers (STLs) …


From Sequencing To Conservation: Genomic Analysis Of Three Sportfish Species In West Virginia, Andrew Johnson Jan 2025

From Sequencing To Conservation: Genomic Analysis Of Three Sportfish Species In West Virginia, Andrew Johnson

Graduate Theses, Dissertations, and Problem Reports (ETD)

Situated in the Appalachian Mountains, one of the oldest mountain ranges on Earth, West Virginia waters boast rich ichthyofauna including native sportfish species walleye (Sander vitreus), largemouth bass (Micropterus nigricans), and muskellunge (Esox masquinongy). These three species are all native to the contemporary Ohio River watershed and play a major recreational and ecological role in local fisheries. Ecologically, all three species are apex predators and play a key role in ecosystems by directly influencing local fish assemblages. As dominant apex predators all three species are highly sought after in recreational fisheries with largemouth bass …


Anthropocene Genetic Diversity Loss In The Marine Tropics, René D. Clark, Brendan N. Reid, Eric Garcia, Marial Malabag, Robin S. Waples, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, Kyra S. Fitz, Sharon F. Magnuson, Richard N. Muallil, Cleto L. Nanola Jr., Roy Roberts, John C. Whalen, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky Jan 2025

Anthropocene Genetic Diversity Loss In The Marine Tropics, René D. Clark, Brendan N. Reid, Eric Garcia, Marial Malabag, Robin S. Waples, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, Kyra S. Fitz, Sharon F. Magnuson, Richard N. Muallil, Cleto L. Nanola Jr., Roy Roberts, John C. Whalen, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky

Biological Sciences Faculty Publications

Genetic diversity is a crucial component of biodiversity, and as such, its maintenance and preservation is of high conservation concern. Tropical environments are undergoing intense rates of environmental change, and these changes may be driving large declines in genetic diversity. However, data on genetic diversity are highly skewed towards temperate regions. The degree to which diversity loss has occurred in tropical species, particularly marine species, remains an open and important question. Here, we directly compare genomic data from modern and museum collections of two commercially-harvested nearshore marine fishes (Equulites laterofenestra and Gazza minuta) gathered from a single location …


Preservation Of Genetic Diversity And Selection Over A Century In A Coral Reef Fish (Taeniamia Zosterophora) In The Philippines, Kyra S. Fitz, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, René D. Clark, Eric Garcia, Ivan R. Lopez, Sharon F. Magnuson, Marial J. Malabag, Richard N. Muallil, Lynne R. Parenti, Brendan R. Reid, Mudjekeewis D. Santos, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky Jan 2025

Preservation Of Genetic Diversity And Selection Over A Century In A Coral Reef Fish (Taeniamia Zosterophora) In The Philippines, Kyra S. Fitz, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, René D. Clark, Eric Garcia, Ivan R. Lopez, Sharon F. Magnuson, Marial J. Malabag, Richard N. Muallil, Lynne R. Parenti, Brendan R. Reid, Mudjekeewis D. Santos, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky

Biological Sciences Faculty Publications

Evaluating the evolutionary impacts of anthropogenic activity on populations is key to understanding species resiliency and to designing effective conservation strategies. Sequencing DNA from historical specimens provides the opportunity to establish a historical baseline and empirically assess changes in genetic diversity, changes in effective population size, and selection over time. Here, we sequenced historical and contemporary samples of the cardinalfish Taeniamia zosterophora collected in 1908 and in 2021-2022 across two sites with differing human impact in the Philippines. At both sites, genetic diversity increased over time, with contemporary samples having significantly higher Watterson's Θ than historical samples. This diversity increase …


Testing Vivo-Morpholino Mediated Gene Knockdown Of Stat6, Spi1b, And Hnf4Α In Adult Threespine Stickleback, Stella Dipippo Dec 2024

Testing Vivo-Morpholino Mediated Gene Knockdown Of Stat6, Spi1b, And Hnf4Α In Adult Threespine Stickleback, Stella Dipippo

Honors Scholar Theses

The fibrotic immune response to the cestode parasite, Schistocephalus solidus, varies among threespine stickleback populations. Fibrosis suppresses parasite growth but has costly effects on the fish. Previous genomic studies in stickleback have suggested potential roles of Spi1b, STAT6, and HNF4α in modulating fibrosis severity, but there is presently no evidence for this in-vivo. We used antisense vivo-morpholino oligonucleotides (MOs) to attempt to knockdown the expression of each gene in the liver, spleen, and intestine of adult stickleback. Vivo-MOs have been proven effective in other species of teleost fish, as well as in mice and humans, but …