Genetics and Genomics Commons^™

Selecting For Less: How Much Methane Can We Truly Breed Away?, Sean B. Crowley

ORBioM (Open Research BioSciences Meeting)

Background

Genetic selection has potential to reduce enteric methane emissions from cattle, but a key challenge is determining how much of the genetic variation in methane traits is independent of traits already targeted in breeding programs, such as feed intake and growth.

Methods

Methane and carbon dioxide emissions were recorded in 1,700 crossbred, indoor-fed beef cattle using Greenfeed systems. Performance data included feed intake, metabolic liveweight, average daily gain, carcass weight, and ultrasound and skeletal traits. Genetic parameters and correlations among traits were estimated using animal linear mixed models to quantify the independence of methane-related genetic variation.

Results

Daily methane …

Exploiting Genomics To Advance Genetic Gain For Reproductive Traits In Sheep, Mujibur Rahman

ORBioM (Open Research BioSciences Meeting)

Poor reproductive performance has a negative impact on the profitability of sheep production systems with the number of lambs reared highlighted as a key driver of farm profitability. Nevertheless, the genetic improvement of reproductive traits in sheep has been constrained by their low heritability and pleiotropic nature. Understanding the underlying genetic architecture can improve genomic prediction estimates and enhance genetic gain.

This study will utilize large-scale genomic and phenotypic datasets to enhance genetic gain in sheep reproductive traits through four approaches: 1) to determine the effect of inbreeding depression on reproduction, 2) to identify causal variants impacting reproductive performance through …

Vitamin D And Cognition: Demographic Disparities In Memory Recall And Word Intrusion In A Multiethnic Cohort, Juan Lopez-Alvarenga, Isabel Omaña-Guzmán, Oscar Rosas-Carrasco, Jose E. Cavazos, Michael C. Mahaney, Gladys E. Maestre

School of Medicine Publications

Background

Vitamin D3 is essential for calcium metabolism and exerts pleiotropic effects, including neuroprotective activities in cognition. Its insufficiency has been linked to dementia, Alzheimer's disease, and cognitive impairments. The association between vitamin D3 and particular cognitive functions, including memory recall and word intrusion, remains imprecise, particularly among diverse ethnic and socioeconomic groups.

Objective

To examine the relationship between vitamin D3 levels with memory recall and word intrusion in individuals aged 60 and above, emphasizing demographic differences.

Methods

Data was collected from 2759 individuals in the NHANES 2011–2014 surveys. Cognitive performance was evaluated with the CERAD Word Learning, Animal Fluency, …

Association Of Glucose Kinase (Gck) Rs1799884 And Glucokinase Regulatory Protein (Gckr) Rs780094 Gene Polymorphism And Type 2 Diabetes Mellitus (T2dm) Susceptibility In Asian Population: A Meta-Analysis, Sharon Benita Stephen, Jayakanthan Saravanan, Gowtham Kumar Subbaraj

Chulalongkorn Medical Journal

Background: Type 2 diabetes mellitus (T2DM) is a condition where the body struggles to regulate blood sugar levels. The GCK (Glucose kinase) and GCKR (Glucokinase regulatory protein) genes play a crucial role in glucose metabolism. GCK produces an enzyme essential for glucose sensing and insulin production, while GCKR regulates this enzyme's activity.

Objective: The meta-analysis aimed to investigate GCK rs1799884 and GCKR rs780094 gene polymorphisms and their association with T2DM in an Asian population.

Methods: Researchers observed articles for two genetic variations (GCK rs1799884 and GCKR rs780094) and their link to type 2 diabetes. We searched online databases like Scopus …

Influence Of Increasing Fires On Mixed Conifer Stand Dynamics In The U.S. Southwest, Simon D. Baker, Kristen M. Waring, David Auty, Nicholas Wilhelmi

Aspen Bibliography

(1) Stand-replacing fires may threaten the continued stability of mixed conifer forests in the U.S. Southwest. Increasing fire frequency and severity have made post-fire forest recovery trajectories uncertain for many coniferous species, potentially leading to long-term shifts in forest structure and composition. (2) The purpose of this study was to examine post-fire stand dynamics over a 10-year period, using a network of permanent plots established prior to wildfire events across Arizona and New Mexico. We assessed changes in over story composition, regeneration, and fuel loading across different fire severities. (3) High severity fire caused near-total over story mortality, with little …

Experiments To Enhance Post-Fire Aspen Seedling Survival And Growth, Larissa L. Yocom, Mark R. Kreider, Owen T. Burney, Tammy Parsons, Ryan T. Choi, Emily K. Liese, Karen E. Mock

Aspen Bibliography

Aspen forests provide wildlife, watershed, and aesthetic value, and the potential for reduced fire occurrence, behavior, and severity. There is interest in planting aspen to achieve various management objectives. However, few studies have investigated the optimal conditions for aspen seedlings in the western US. We conducted two experiments to address this knowledge gap. First, we tested the effects of shading structures (i.e., logs) and biochar on the survival and growth of 960 outplanted aspen seedlings in three exclosures in a recent fire footprint. Second, we tested whether experimentally placing logs near 120 naturally-occurring post-fire aspen seedlings affected survival or growth. …

Exploring Muslim American Attitudes Toward Genetic Testing: Perceptions, Barriers, And Ethical Considerations, Hannah Mahmoud

University Honors Theses

This thesis explores perceptions and attitudes toward genetic testing within the Muslim American community, a group often underrepresented in genomic research and public health discourse. Using a community-distributed digital survey, data was collected from 50 self-identified Muslim Americans on their familiarity with genetic testing, reproductive and ethical considerations, and the influence of religious factors. While only 18% had undergone genetic testing themselves, many were familiar through family or friends, and most expressed cautious interest—especially when results could influence future family planning. Education level, age, and religious values shaped both comfort and understanding.

A key theme was the desire for culturally …

Cisplatin Palbociclib Combination Differentially Modulates Pten Akt Signaling Via Hsp90 In Hepatocellular Carcinoma Cells., Eman Ramadan

Pharmacy

Hepatocellular carcinoma (HCC) presents a significant global health challenge, marked by high mortality and recurrence. This study investigated the synergistic potential of cisplatin and palbociclib (C + P) against HCC cell lines. RT-qPCR revealed that C + P significantly downregulated HCC-related genes, including Hsp90, β-catenin, and components of the PI3K/AKT/mTOR pathway, compared to cisplatin alone and controls. Western blotting confirmed a reduction in phosphorylated AKT (P-AKT) with palbociclib and C + P, while PTEN, a tumor suppressor, was upregulated in the C + P group. Annexin V-FITC assays demonstrated a substantial increase in apoptosis in palbociclib and C + P …

A Review On The Cytogenetic Integrity Of Micropropagated Plants [Review Paper], Eliaza Alumbro Peniton Jr

The Philippine Agricultural Scientist

Cytogenetic stability is essential for the survival of micropropagated plants. While micropropagation allows rapid propagation of plants with desirable phenotypes, it may also produce genetic variations that are, at times, cytogenetically observable. Factors affecting these variations are not fully understood, and micropropagation protocols are optimized to produce genetically stable regenerants. The genetic stability of micropropagated plants is traditionally assessed by comparing the phenomorphological traits of the regenerants to the mother plant. However, genetic variation does not often result in obvious morphological changes. Therefore, molecular and cytogenetic markers are typically used to evaluate the genetic variations of regenerants. Moreover, analyzing plant …

Understanding How Genetic Mutations Induce Oligodendrocyte Progenitors To Become Cancer Cells, Dennis Huang

Dissertations, Theses, and Capstone Projects

Gliomas are the most devastating adult brain tumors characterized by poor survival rate and limited options for treatment. Previous studies have shown that they are very heterogeneous and can be further sub-classified based on their transcriptional signature and the presence of specific mutations. One such subtype, is the “proneural glioma”, which is characterized by the enrichment in oligodendrocyte progenitor cell (OPC) transcripts and mutations in genes encoding for the tumor suppressor P53 (Trp53) and for Platelet Derived Grow Factor (PDGF) signaling. Since OPCs are the most abundant proliferative population in the adult brain, in this …

Individual, Social, And Environmental Factors Associated With Patterns Of Parasitic Infection In Capuchin Monkeys (Cebus Imitator), Megan C. Henriquez

Dissertations, Theses, and Capstone Projects

Parasites, and the infectious diseases they carry, are thought to have significantly impacted our evolutionary trajectory for millennia. Exploring how parasites are acquired and transmitted by their hosts in wild, natural populations is integral to understanding how similar processes may have shaped host-parasite co-evolutionary relationships over time. However, parasitological studies in humans and in non-human primates have produced inconsistent results, highlighting the dynamic, nuanced, and unique relationships individual parasites have with their hosts. These relationships are largely regulated by variation in factors at host, social, and environmental levels. Characteristics unique to the host (e.g., age and sex), factors pertaining to …

Topodino: Self-Supervised Topological Representation Learning For Neuronal Morphologies, Yasser Binbisher

Master's Theses

Neuronal cell types are categorized by transcriptomic identity, yet their morphological heterogeneity defies this classification. In response, researchers have adopted unsupervised graph representation learning as a tool to reveal morphological variation within single-class transcriptomic types. However, the complex geometry of neuronal morphology—especially long axons and dense dendrites—challenges graph neural networks, which struggle with message propagation across extended structures. To mitigate this, current approaches enforce sub-sampling on neuronal graphs and omit axons entirely, sacrificing critical biological features for computational efficiency. To overcome this trade-off, this thesis introduces TopoDINO, a self-supervised, topology-aware representation learning model designed to preserve the full hierarchical organization …

Investigating A Link Between Dna Repair And Dna Replication In Escherichia Coli Using A Bacterial Two-Hybrid System, Lo Cooper

University Honors Theses

Cells rely on nucleotide excision repair (NER) to remove bulky DNA lesions, such as those caused by UV light. In Escherichia coli, NER involves the UvrABC complex, and includes two main pathways, global genomic repair and transcription-coupled repair (TCR). While TCR, which preferentially removes lesions that block RNA polymerase on the transcribed strand of active genes, is well studied, less is known about whether a similar coupling between repair proteins and replisomes blocked by damaged DNA exists. Such a process has been suggested by a high throughput interactome study, using the replisome subunit HolC as bait and the damage …

Genetic Analysis Of Psychosis Biotypes: Shared Ancestry-Adjusted Polygenic Risk And Unique Genomic Associations, Cuihua Xia, Ney Alliey Rodriguez, Carol A. Tamminga, Matcheri S. Keshavan, Godfrey Pearlson

School of Medicine Publications

The Bipolar-Schizophrenia Network for Intermediate Phenotypes (B-SNIP) created psychosis Biotypes based on neurobiological measurements in a multi-ancestry sample. These Biotypes cut across DSM diagnoses of schizophrenia, schizoaffective disorder, and bipolar disorder with psychosis. Two recently developed post hoc ancestry adjustment methods of Polygenic Risk Scores (PRSs) generate Ancestry-Adjusted PRSs (AAPRSs), which allow for PRS analysis of multi-ancestry samples. Applied to schizophrenia PRS, we found the Khera AAPRS method to show superior portability and comparable prediction accuracy as compared with the Ge method. The three Biotypes of psychosis disorders had similar AAPRSs across ancestries. In genomic analysis of Biotypes, 12 genes, …

Exploring Natural Competence Of Escherichia Coli Through Biofilm Formation, Thulni Liyanaarachchi

University Honors Theses

Escherichia coli is a species not known for natural competence; however, specific growth conditions can induce the process in this bacterium due to the presence of homologous competence genes. These conditions could be met with biofilm formation through an active growth phase in the two-layer architecture. Therefore, my thesis examined whether natural competence is exhibited in E. coli during biofilm formation as determined by the genetic transfer of ampicillin and chloramphenicol-resistance genes between two separate strains. The experiments were broken into three aims to determine the morphology of the biofilm in inter-strain co-cultures and cell-DNA mixes, the effect of …

A Scan Of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants Of Baseline Fviii Inhibitor Status In Hemophilia A, Marcio Almeida, Vincent P. Diego, Kevin R. Viel, Bernadette W. Luu, Eron G. Manusov, Juan M. Peralta, Satish Kumar, Sarah Williams-Blangero, John Blangero, Tom Howard

School of Medicine Publications

Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene (F8)-mutations and deficiencies in plasma-FVIII-activity that prevent intrinsic-pathway mediated coagulation-amplification. Severe-HA patients (HAPs) require life-long infusions of therapeutic-FVIII-proteins (tFVIIIs) but ~30% develop neutralizing-tFVIII-antibodies called “FVIII-inhibitors (FEIs)”. We investigated the genetics underlying the variable risk of FEI-development in 450 North American HAPs (206 and 244 respectively self-reporting black-African- or white-European-ancestry) by analyzing the genotypes of single-nucleotide-variations (SNVs) in candidate immune-mediated-disease (IMD)-genes using a binary linear-mixed model of genetic association with baseline-FEI-status, the dependent variable, while simultaneously accounting for their genetic relationships and heterogeneous-F8-mutations to …

Analytical Approaches For Identification Of Essential Genomes Of Plasmodium Knowlesi And Babesia Divergens, Sida Ye

Graduate Doctoral Dissertations

Apicomplexa constitute a large phylum of single-celled, obligate intracellular protozoan parasites. Notably, Plasmodium spp. and Babesia spp. are apicomplexan parasites that infect red blood cells. Plasmodium species are the causative agent of malaria and are transmitted by Anopheles mosquitoes, affecting large human populations, whereas Babesia spp., transmitted through the bite of Ixodes ticks cause babesiosis.

In this dissertation, we investigate the essential genome of these parasites using high-throughput transposon mutagenesis. Identifying the essential genome is key to finding new drug targets and understanding resistance mechanisms, a crucial pursuit given the rising resistance to frontline antimalarial drugs and the challenges …

Comparative Methylation Analyses Across Juglans Species To Investigate Epigenetic Contributions To Fungal Resistance, Keertana Chagari

Honors Scholar Theses

Juglans cinerea (butternut) is a critically threatened North American tree species experiencing severe declines due to the fungal pathogen Ophiognomonia clavigignentijuglandacearum. In contrast, its Asian relative, Juglans ailantifolia (Japanese walnut), shows natural resistance. To investigate the genomic and epigenetic factors underlying this difference, we constructed and analyzed high-quality, chromosome-level genome assemblies for both species from long-read sequencing data (J. ailantifolia: 527Mb; J. cinerea: 586Mb), focusing on transposable element (TE) content, DNA methylation patterns, and regulation of pathogen resistance genes (PRGs).

Repeat analysis revealed that J. cinerea has a slightly higher overall transposable element (TE) content, with …

Integrating Radiogenomics And Machine Learning In Musculoskeletal Oncology Care, Rahul Kumar, Kyle Sporn, Akshay Khanna, Phani Paladugu, Chirag Gowda, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli

Department of Medicine Faculty Papers

Musculoskeletal tumors present a diagnostic challenge due to their rarity, histological diversity, and overlapping imaging features. Accurate characterization is essential for effective treatment planning and prognosis, yet current diagnostic workflows rely heavily on invasive biopsy and subjective radiologic interpretation. This review explores the evolving role of radiogenomics and machine learning in improving diagnostic accuracy for bone and soft tissue tumors. We examine integrating quantitative imaging features from MRI, CT, and PET with genomic and transcriptomic data to enable non-invasive tumor profiling. AI-powered platforms employing convolutional neural networks (CNNs) and radiomic texture analysis show promising results in tumor grading, subtype differentiation …

The Role Of G6pd Variants And 3d Genomic Structure In The Development Of Pulmonary Hypertension, Christina M. Signoretti Ph.D.

NYMC Student Theses and Dissertations

Pulmonary hypertension is an under-recognized global health epidemic which is estimated to affect 1% of the population. It is associated with sustained mean pulmonary artery pressure greater than 20 mmHg, pulmonary artery remodeling, smooth muscle and endothelial cell proliferation and subsequent increased right ventricle hypertrophy due to increased afterload. Glucose-6-phosphate dehydrogenase (G6PD) is one of the key enzymes in the pentose phosphate pathway and has been previously linked to the development of pulmonary hypertension. G6PD deficiency is the most common human enzymopathy which affects approximately 400 million people worldwide and is a result of agricultural and epidemiological evolution in different …