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

Genetics and Genomics Commons™

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

9,797 Full-Text Articles 38,939 Authors 3,594,254 Downloads 285 Institutions

All Articles in Genetics and Genomics

Faceted Search

9,797 full-text articles. Page 151 of 403.

Sources Of Resistance To Common Bacterial Blight And Charcoal Rot Disease For The Production Of Mesoamerican Common Beans In The Southern United States, Daniel Ambachew, Jacqueline Joshua, Margaret T. Mmbaga, Matthew W. Blair 2021 Tennessee State University

Sources Of Resistance To Common Bacterial Blight And Charcoal Rot Disease For The Production Of Mesoamerican Common Beans In The Southern United States, Daniel Ambachew, Jacqueline Joshua, Margaret T. Mmbaga, Matthew W. Blair

Agricultural and Environmental Sciences Faculty Research

The gene pool of Mesoamerican common beans (Phaseolus vulgaris L.) includes genotypes in the small-to-medium-size seeded dry beans, as well as some snap beans from hotter environments adapted to the Southeastern United States. However, the warm and humid climate of the Southeastern United States is conducive to diseases such as Common Bacterial Blight (CBB) and Charcoal Rot (CR). The pathogens for these two diseases can survive long periods in infested soil or on seeds and are difficult to control through pesticides. Hence, field-level resistance would be the best management strategy for these diseases. The goals of this study were (1) …


Identifying The Cell Composition And Clonal Diversity Of Supratentorial Ependymoma Using Single Cell Rna-Sequencing, James He 2021 University of Connecticut

Identifying The Cell Composition And Clonal Diversity Of Supratentorial Ependymoma Using Single Cell Rna-Sequencing, James He

University Scholar Projects

Ependymoma is a primary solid tumor of the central nervous system. Supratentorial ependymoma (ST-EPN), a subtype of ependymomas, is driven by an oncogenic fusion between the ZFTA and RELA genes in 70% of cases. We introduced this fusion into neural progenitor cells of mice embryos via in utero electroporation of a non-viral binary piggyBac transposon system containing ZFTA-RELA. From preliminary data in the LoTurco lab, inducing the expression of ZFTA-RELA into different neural progenitor cells produces tumors of varying lethality and cellular composition. To define the cellular composition and subclonal diversity of ST-EPN tumors, we used single cell RNA-sequencing to …


Evolution Of Extreme Habitat Specialists In The Dark: Cavefishes And Anglerfishes, Pamela Hart 2021 Louisiana State University

Evolution Of Extreme Habitat Specialists In The Dark: Cavefishes And Anglerfishes, Pamela Hart

LSU Doctoral Dissertations

Extremophilic organisms are fascinating in that they thrive in physiologically demanding environments. Extreme habitats include subsurface caves and the deep sea, which share several qualities like low light and cold temperatures. Extremophiles have adapted bizarre characteristics that allow them to thrive in such harsh environments including eye and pigment loss (cavefishes) and development of a lure in anglerfishes. These traits are integral to the health and fitness of these organisms, yet the evolutionary history of these traits is unclear.

Cave adaptation has evolved repeatedly across the Tree of Life, famously leading to eye degeneration and loss, yet its macroevolutionary implications …


Molecular Characterization Of A Unique Population Of Human Cortical Interneurons; Implications For Primate-Specific Development, Crina Peterson 2021 University of New Mexico

Molecular Characterization Of A Unique Population Of Human Cortical Interneurons; Implications For Primate-Specific Development, Crina Peterson

Biomedical Sciences ETDs

The human brain consists of 86 billion neurons compared to rodent brain, which consists of 75 million neurons, and the underlying mechanisms for the increased complexity of the primate cortex are not fully elucidated. However, an increase in specific cell populations, including calretinin-expressing (CALB2/CR) interneurons (INs), has been identified. In my thesis work, I demonstrate that human pluripotent stem cells (hPSCs) differentiated to neurons by default patterning give rise to this CR population in vitro, providing a method to study their development.

Chapter I reviews cortical development and hPSCs as an appropriate proxy for studying human cortical development. Chapter …


Splitting The Difference: Heterogeneous Soil Moisture Availability Affects Aboveground And Belowground Reserve And Mass Allocation In Trembling Aspen, Ashley T. Hart, Morgane Merlin, Erin Wiley, Simon M. Landhäusser 2021 University of Alberta

Splitting The Difference: Heterogeneous Soil Moisture Availability Affects Aboveground And Belowground Reserve And Mass Allocation In Trembling Aspen, Ashley T. Hart, Morgane Merlin, Erin Wiley, Simon M. Landhäusser

Aspen Bibliography

When exploring the impact of resource availability on perennial plants, artificial treatments often apply conditions homogeneously across space and time, even though this rarely reflects conditions in natural systems. To investigate the effects of spatially heterogeneous soil moisture on morphological and physiological responses, trembling aspen (Populus tremuloides) saplings were used in a split-pot experiment. Following the division of the root systems, saplings were established for a full year and then subjected to either heterogeneous (portion of the root system exposed to non-lethal drought) or homogeneous (whole root system exposed to non-lethal drought or well-watered) treatments. Above- and belowground …


Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott 2021 CMH

Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott

Research Days

Background: Infant acute lymphoblastic leukemia (ALL), is a particularly aggressive subtype of leukemia with an early onset and unfavorable clinical outcome. Most (~70%) cases of infant ALL involve chromosomal rearrangement of KMT2A (KMT2A- r) on chromosome 11q23, the strongest independent predictor of a poor prognosis. To date, genomics studies have consistently demonstrated KMT2A-r infant ALL to have a strikingly silent landscape of DNA mutations. Germline mutations in cancer predisposition genes are found in 8.6% of pediatric malignancies and 4.4% of pediatric leukemias, compared to 1.1% in persons in the 1000 Genomes Project.

Objectives/Goal: We hypothesized that germline variants may contribute …


Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans To Migrate To The Most Recent Human Reference Genome Build (Grch38), Lisa A. Lansdon 2021 Children's Mercy Kansas City

Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans To Migrate To The Most Recent Human Reference Genome Build (Grch38), Lisa A. Lansdon

Research Days

Background: Analysis of clinical next-generation sequencing (NGS) data requires the Human Reference Genome (HRG) for alignment. Build GRCh38 was released in December 2013 and resolved ~1,000 issues from GRCh37, including erroneous calls within clinically-relevant genes.

Objectives/Goal: Despite this new release becoming available over seven years ago, most clinical laboratories continue to use build GRCh37. We were interested to learn other clinical laboratory’s plans for migration to GRCh38, including their proposed timelines and related concerns; therefore, we conducted a survey to define the current landscape of genome alignment in clinical NGS.

Methods/Design: Seventy-one clinical laboratories performing constitutional NGS testing were invited …


Genome Sequence Of A Virulent African Swine Fever Virus Isolated In 2020 From A Domestic Pig In Northern Vietnam, Quang Lam Truong, Thi Lan Nguyen, Thi Hoa Nguyen, Jishu Shi, Hiep Lai Xuan Vu, Thi Lan Huong Lai, Van Giap Nguyen 2021 Vietnam National University of Agriculture

Genome Sequence Of A Virulent African Swine Fever Virus Isolated In 2020 From A Domestic Pig In Northern Vietnam, Quang Lam Truong, Thi Lan Nguyen, Thi Hoa Nguyen, Jishu Shi, Hiep Lai Xuan Vu, Thi Lan Huong Lai, Van Giap Nguyen

Nebraska Center for Virology: Faculty Publications

This study reports the genome sequence of an isolated African swine fever (ASF) virus (VNUA-ASFV-05L1/HaNam) obtained at the fourth passage on pulmonary alveolar macrophages. The virus was isolated during a typical acute ASF outbreak in pigs in a northern province of Vietnam in 2020.


Repurposing Potential Of Posaconazole And Grazoprevir As Inhibitors Of Sars-Cov-2 Helicase, Syed Hani Abidi, Nahlah Makki Almansour, Daulet Amerzhanov, Khaled S. Allemailem, Wardah Rafaqat, Mahmoud A A. Ibrahim, Philip la Fleur, Martin Lukac, Syed Ali 2021 Aga Khan University

Repurposing Potential Of Posaconazole And Grazoprevir As Inhibitors Of Sars-Cov-2 Helicase, Syed Hani Abidi, Nahlah Makki Almansour, Daulet Amerzhanov, Khaled S. Allemailem, Wardah Rafaqat, Mahmoud A A. Ibrahim, Philip La Fleur, Martin Lukac, Syed Ali

Department of Biological & Biomedical Sciences

As the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) pandemic engulfs millions worldwide, the quest for vaccines or drugs against the virus continues. The helicase protein of SARS-CoV-2 represents an attractive target for drug discovery since inhibition of helicase activity can suppress viral replication. Using in silico approaches, we have identified drugs that interact with SARS-CoV-2 helicase based on the presence of amino acid arrangements matching binding sites of drugs in previously annotated protein structures. The drugs exhibiting an RMSD of ≤ 3.0 Å were further analyzed using molecular docking, molecular dynamics (MD) simulation, and post-MD analyses. Using these approaches, we …


The Immune Microenvironment And Relation To Outcome In Patients With Advanced Breast Cancer Treated With Docetaxel With Or Without Gemcitabine, Elisabeth S. Stovgaard, Karama Asleh, Nazia Riaz, Samuel Leung, Dongxia Gao, Lise B. Nielsen, Anne-Vibeke Lænkholm, Eva Balslev, Maj-Britt Jensen, Dorte Nielsen, Torsten O. Nielsen 2021 University of Copenhagen, Herlev, Denmark

The Immune Microenvironment And Relation To Outcome In Patients With Advanced Breast Cancer Treated With Docetaxel With Or Without Gemcitabine, Elisabeth S. Stovgaard, Karama Asleh, Nazia Riaz, Samuel Leung, Dongxia Gao, Lise B. Nielsen, Anne-Vibeke Lænkholm, Eva Balslev, Maj-Britt Jensen, Dorte Nielsen, Torsten O. Nielsen

Centre for Regenerative Medicine & Stem Cell Research

Preclinical studies suggest that some effects of conventional chemotherapy, and in particular, gemcitabine, are mediated through enhanced antitumor immune responses. The objective of this study was to use material from a randomized clinical trial to evaluate whether patients with preexisting immune infiltrates responded better to treatment with gemcitabine + docetaxel (GD) compared to docetaxel alone. Formalin fixed, paraffin-embedded breast cancer tissues from SBG0102 phase 3 trial patients randomly assigned to treatment with GD or docetaxel were used. Immunohistochemical staining for CD8, FOXP3, LAG3, PD-1, PD-L1 and CD163 was performed. Tumor infiltrating lymphocytes (TILs) and tumor associated macrophages were evaluated. Prespecified …


The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan 2021 University of Connecticut

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …


Extraction Of Human Dna From Soil In A Simulated Clandestine Grave, Arely Joaly Parra Lopez 2021 University of New Haven

Extraction Of Human Dna From Soil In A Simulated Clandestine Grave, Arely Joaly Parra Lopez

Honors Theses

Locard’s Exchange Principle states that “every contact leaves a trace.” The same principle applies when a perpetrator of a homicide decides to bury a victim in a clandestine grave. If a perpetrator originally buried a murder victim in haste to prevent discovery and then decided to later move the victim’s body to a remote location for disposal, decomposition fluids from the victim’s body (which contain cellular material and therefore DNA) would remain in the surrounding grave soil at the original burial site. It is possible that investigators could: 1) prove that a human body had once laid in that location …


The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan 2021 University of Connecticut

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

Honors Scholar Theses

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …


Mucin And Splice Variant Profiles Of Pancreatic Adenocarcinoma Predict Patient Survival And Subtyping, Christopher M. Thompson 2021 University of Nebraska Medical Center

Mucin And Splice Variant Profiles Of Pancreatic Adenocarcinoma Predict Patient Survival And Subtyping, Christopher M. Thompson

Theses & Dissertations

PDAC is a pancreatic epithelial malignancy and demonstrates aggressive progression and bleak patient prognosis. Despite decades of research, the evolution of novel diagnostics and intervention modalities for PDAC is stagnant. This dissertation explores the characteristic aberrant and elevated expression of mucins in PDAC. Beginning with the hypothesis that mucins are associated with disease aggressiveness, analysis of PDAC patient survival in TCGA revealed no associations between single mucin expression and patient survival. This led to the underlying issue of PDAC tumor cellularity since this disease demonstrates variability in the proportion of cancer cells within the tumor. Tumor purity assessed with the …


Development Of In-Silico Pipelines For Identification And Characterization Of Biomarker Panels And Therapeutic Interventions In Gastro-Intestinal (Gi) Cancers, Pranita Atri 2021 University of Nebraska Medical Center

Development Of In-Silico Pipelines For Identification And Characterization Of Biomarker Panels And Therapeutic Interventions In Gastro-Intestinal (Gi) Cancers, Pranita Atri

Theses & Dissertations

Gastro-intestinal (GI) malignancies, including gastric, colorectal, and pancreatic cancers, have maintained their high overall mortality due to a lack of prognostic and diagnostic biomarkers and potential therapeutic modalities. While efforts have been made to improve both early detection and therapeutic interventions in these cancers, failure of conventional approaches have proven to be a big challenge, and alternate approaches are needed. Computational biology approaches owing to lesser time and more per target success rate offer a unique solution here. The current study explored the use of computational biology techniques to study the various aspects relating to GI malignancies. First, we sought …


Codon Bias Can Determine Sorting Of A Potassium Channel Protein, Anja J. Engel, Marina Kithil, Markus Langhans, Oliver Rauh, Matea Cartolano, James L. Van Etten, Anna Moroni, Gerhard Thiel 2021 Technische Universitat Darmstadt

Codon Bias Can Determine Sorting Of A Potassium Channel Protein, Anja J. Engel, Marina Kithil, Markus Langhans, Oliver Rauh, Matea Cartolano, James L. Van Etten, Anna Moroni, Gerhard Thiel

Nebraska Center for Virology: Faculty Publications

Due to the redundancy of the genetic code most amino acids are encoded by multiple synonymous codons. It has been proposed that a biased frequency of synonymous codons can affect the function of proteins by modulating distinct steps in transcription, translation and folding. Here, we use two similar prototype K+ channels as model systems to examine whether codon choice has an impact on protein sorting. By monitoring transient expression of GFP-tagged channels in mammalian cells, we find that one of the two channels is sorted in a codon and cell cycle-dependent manner either to mitochondria or the secretory pathway. …


Big Five Personality Traits And Political Orientation: An Inquiry Into Political Beliefs, Ian E. Phillips 2021 Cleveland State University

Big Five Personality Traits And Political Orientation: An Inquiry Into Political Beliefs, Ian E. Phillips

The Downtown Review: An Interdisciplinary Journal Written and Peer-Reviewed by Mandel Honors College Students at Cleveland State University

Personality research centered on the Big Five personality traits has heavily impacted our understanding in regards to what forces orient a person on a political spectrum. Examining how personality differences interact with political orientation, this research seeks to provide information on what makes someone either more or less likely to be liberal or conservative based on their temperament. In this paper, previous personality research is synthesized into one discussion, centered on what the effects of each trait are and how they impact political orientation, the heritability of personality, and what implications there are for such research in the realm of …


Evolutionary Conservation Of The Heterochronic Pathway In C. Elegans And C. Briggsae, Maria Ivanova, Eric G. Moss 2021 Rowan University

Evolutionary Conservation Of The Heterochronic Pathway In C. Elegans And C. Briggsae, Maria Ivanova, Eric G. Moss

Rowan-Virtua Research Day

Heterochronic genes control the sequence and timing of developmental events during four larval stages of Caenorhabitis nematodes. Mutations in these genes may cause skipping or reiteration of developmental events.

C. briggsae is a close relative of C. elegans. These species have similar morphology and share the same ecological niche. C. briggsae undergoes the same developmental pathway consisting of four larval stages before reaching adulthood. It also has the same set of heterochronic genes.

Lin-28 is one of the heterochronic genes that also exists in other animals from flies to humans. It conservatively blocks the maturation of let-7 miRNA, the process …


Chloroplast Genomes In Populus (Salicaceae): Comparisons From An Intensively Sampled Genus Reveal Dynamic Patterns Of Evolution, Jiawei Zhou, Shuo Zhang, Jie Wang, Hongmei Shen, Bin Ai, Wei Gao, Cuijun Zhang, Qili Fei, Daojun Yuan, Zhiqiang Wu, Luke R. Tembrock, Sen Li, Cuiha Gu, Xuezhu Liao 2021 Huazhong Agricultural University

Chloroplast Genomes In Populus (Salicaceae): Comparisons From An Intensively Sampled Genus Reveal Dynamic Patterns Of Evolution, Jiawei Zhou, Shuo Zhang, Jie Wang, Hongmei Shen, Bin Ai, Wei Gao, Cuijun Zhang, Qili Fei, Daojun Yuan, Zhiqiang Wu, Luke R. Tembrock, Sen Li, Cuiha Gu, Xuezhu Liao

Aspen Bibliography

The chloroplast is one of two organelles containing a separate genome that codes for essential and distinct cellular functions such as photosynthesis. Given the importance of chloroplasts in plant metabolism, the genomic architecture and gene content have been strongly conserved through long periods of time and as such are useful molecular tools for evolutionary inferences. At present, complete chloroplast genomes from over 4000 species have been deposited into publicly accessible databases. Despite the large number of complete chloroplast genomes, comprehensive analyses regarding genome architecture and gene content have not been conducted for many lineages with complete species sampling. In this …


Genomics, Exometabolomics, And Metabolic Probing Reveal Conserved Proteolytic Metabolism Of Thermoflexus Hugenholtzii And Three Candidate Species From China And Japan, Scott C. Thomas, Devon Payne, Kevin O. Tamadonfar, Cale O. Seymour, Jian Yu Jiao, Senthil K. Murugapiran, Dengxun Lai, Rebecca Lau, Benjamin P. Bowen, Leslie P. Silva, Katherine B. Louie, Marcel Huntemann, Alicia Clum, Alex Spunde, Manoj Pillay, Krishnaveni Palaniappan, Neha Varghese, Natalia Mikhailova, I. Min Chen, Dimitrios Stamatis, T. B.K. Reddy, Ronan O’Malley, Chris Daum, Nicole Shapiro, Natalia Ivanova, Nikos C. Kyrpides, Tanja Woyke, Emiley Eloe-Fadrosh, Trinity L. Hamilton, Paul Dijkstra, Brian P. Hedlund 2021 University of Nevada, Las Vegas

Genomics, Exometabolomics, And Metabolic Probing Reveal Conserved Proteolytic Metabolism Of Thermoflexus Hugenholtzii And Three Candidate Species From China And Japan, Scott C. Thomas, Devon Payne, Kevin O. Tamadonfar, Cale O. Seymour, Jian Yu Jiao, Senthil K. Murugapiran, Dengxun Lai, Rebecca Lau, Benjamin P. Bowen, Leslie P. Silva, Katherine B. Louie, Marcel Huntemann, Alicia Clum, Alex Spunde, Manoj Pillay, Krishnaveni Palaniappan, Neha Varghese, Natalia Mikhailova, I. Min Chen, Dimitrios Stamatis, T. B.K. Reddy, Ronan O’Malley, Chris Daum, Nicole Shapiro, Natalia Ivanova, Nikos C. Kyrpides, Tanja Woyke, Emiley Eloe-Fadrosh, Trinity L. Hamilton, Paul Dijkstra, Brian P. Hedlund

Life Sciences Faculty Research

Thermoflexus hugenholtzii JAD2 , the only cultured representative of the Chloroflexota order Thermoflexales, is abundant in Great Boiling Spring (GBS), NV, United States, and close relatives inhabit geothermal systems globally. However, no defined medium exists for T. hugenholtzii JAD2 and no single carbon source is known to support its growth, leaving key knowledge gaps in its metabolism and nutritional needs. Here, we report comparative genomic analysis of the draft genome of T. hugenholtzii JAD2 and eight closely related metagenome-assembled genomes (MAGs) from geothermal sites in China, Japan, and the United States, representing “Candidatus Thermoflexus japonica,” “Candidatus Thermoflexus tengchongensis,” and “Candidatus …


Digital Commons powered by bepress