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Articles 1 - 30 of 156
Full-Text Articles in Genetics and Genomics
Cullin-4 Regulates Wingless And Jnk Signaling-Mediated Cell Death In The Drosophila Eye., Meghana Tare, Ankita Sarkar, Shimpi Bedi, Madhuri Kango-Singh, Amit Singh
Cullin-4 Regulates Wingless And Jnk Signaling-Mediated Cell Death In The Drosophila Eye., Meghana Tare, Ankita Sarkar, Shimpi Bedi, Madhuri Kango-Singh, Amit Singh
Biology Faculty Publications
In all multicellular organisms, the fundamental processes of cell proliferation and cell death are crucial for growth regulation during organogenesis. Strict regulation of cell death is important to maintain tissue homeostasis by affecting processes like regulation of cell number, and elimination of unwanted/unfit cells. The developing Drosophila eye is a versatile model to study patterning and growth, where complex signaling pathways regulate growth and cell survival. However, the molecular mechanisms underlying regulation of these processes is not fully understood. In a gain-of-function screen, we found that misexpression of cullin-4 (cul-4), an ubiquitin ligase, can rescue reduced eye mutant phenotypes. Previously, …
The Fate Of Icd-1 During Misfolded Protein Induced Apoptosis In Caenorhabditis Elegans, Kyle H. Perez
The Fate Of Icd-1 During Misfolded Protein Induced Apoptosis In Caenorhabditis Elegans, Kyle H. Perez
Senior Honors Projects, 2010-2019
Severe misfolded protein stress initiates cellular responses that often result in the death of the affected cell, typically by apoptosis. An essential aspect of apoptosis is caspase-mediated cleavage of proteins that, once cleaved, further propagate death. One heterodimeric structure putatively targeted in this process in the nascent polypeptide-associated complex (NAC), a translational chaperone thought to help prevent misfolded protein stress in the ER. The purpose of this investigation was to determine whether the beta subunit of the NAC in C. elegans (ICD-1) is cleaved during the induction of apoptosis, with the hypothesis that ICD-1 is cleaved during stressed-induced apoptosis to …
A Bioinformatics Methodology For The Annotation And Analysis Of Sperm Chromatin Remodeling Proteins In Sequenced Drosophila Species, Zain A. Alvi
Seton Hall University Dissertations and Theses (ETDs)
Spermatogenesis is the process by which mature functional spermatozoa are formed, and is initiated in the stem cell niche of the testes. During the post-meiotic stage of spermatogenesis, spermiogenesis, transition proteins facilitate the transformation of chromatin from a histone-based nucleosome structure to a protamine-based nucleosome structure. This study is aimed at analyzing genomic, transcript, and protein sequences of transition proteins in 13 sequenced Drosophila species. The Drosophila melanogaster spermatid specific transition protein-like protein (Tpl94D) was used as the reference sequence in this study. An extensive bioinformatics approach was employed in establishing the Tpl94D orthologs. We identified …
Dna Polymerase Zeta-Dependent Mutagenesis: Molecular Specificity, Extent Of Error-Prone Synthesis, And The Role Of Dntp Pools, Olga V. Kochenova
Dna Polymerase Zeta-Dependent Mutagenesis: Molecular Specificity, Extent Of Error-Prone Synthesis, And The Role Of Dntp Pools, Olga V. Kochenova
Theses & Dissertations
Despite multiple DNA repair pathways, DNA lesions can escape repair and compromise normal chromosomal replication, leading to genome instability. Cells utilize specialized low-fidelity Translesion Synthesis (TLS) DNA polymerases to bypass lesions and rescue arrested replication forks. TLS is a highly conserved two-step process that involves insertion of a nucleotide opposite a lesion and extension of the resulting aberrant primer terminus. The first step can be performed by both replicative and TLS DNA polymerases and, because of non-instructive DNA lesions, often results in a nucleotide misincorporation. The second step is almost exclusively catalyzed by DNA polymerase ζ …
Functional Significance Of Branch Points In Mirtrons, Britton A. Strickland
Functional Significance Of Branch Points In Mirtrons, Britton A. Strickland
Honors Theses
MicroRNAs are a heterogeneous group of small regulatory RNAs generated by many pathways. Mirtrons (miR) are a class of microRNAs produced by splicing, and some mirtrons contain a 3’ tail located downstream from the self-complementary hairpin. During RNA splicing, a loop-like “lariat” intermediate structure is created when the 5’ end of the RNA is attached to an adenine called the branch point. The goal of this project is to uncover the contribution of branch point location to the processing of tailed mirtrons into functional gene regulators. This project approaches this issue from two directions. First, branch points were identified by …
Reexamining Chronic Toxoplasma Gondii Infection: Surprising Activity For A "Dormant" Parasite, Anthony P. Sinai, Elizabeth A. Watts, Animesh Dhara, Robert D. Murphy, Matthew S. Gentry, Abhijit R. Patwardhan
Reexamining Chronic Toxoplasma Gondii Infection: Surprising Activity For A "Dormant" Parasite, Anthony P. Sinai, Elizabeth A. Watts, Animesh Dhara, Robert D. Murphy, Matthew S. Gentry, Abhijit R. Patwardhan
Microbiology, Immunology, and Molecular Genetics Faculty Publications
Purpose of Review
Despite over a third of the world’s population being chronically infected with Toxoplasma gondii, little is known about this largely asymptomatic phase of infection. This stage is mediated in vivo by bradyzoites within tissue cysts. The absence of overt symptoms has been attributed to the dormancy of bradyzoites. In this review, we reexamine the conventional view of chronic toxoplasmosis in light of emerging evidence challenging both the nature of dormancy and the consequences of infection in the CNS.
Recent Findings
New and emerging data reveal a previously unrecognized level of physiological and replicative capacity of bradyzoites …
Characterization Of Vesicular Monoamine Transporter 2 And Its Role In Parkinson's Disease Pathogenesis Using Drosophila, Antonio Joel Tito Jr., Sheng Zhang
Characterization Of Vesicular Monoamine Transporter 2 And Its Role In Parkinson's Disease Pathogenesis Using Drosophila, Antonio Joel Tito Jr., Sheng Zhang
Dissertations & Theses (Open Access)
Parkinson’s disease (PD) is a progressive neurodegenerative disorder caused by the selective loss of the dopaminergic neurons in the Substantia nigra pars compacta region of the brain. PD is also the most common neurodegenerative disorder and the second most common movement disorder. PD patients exhibit the cardinal symptoms, including tremor of the extremities, rigidity, slowness of movement, and postural instability, after 70-80% of DA neurons degenerate. It is, therefore, imperative to elucidate the underlying mechanisms involved in the selective degeneration of DA neurons. Although increasing numbers of PD genes have been identified, why these largely widely expressed genes induce …
Cohesion Without Cohesins In Drosophila Meiosis, Avik Mukherjee
Cohesion Without Cohesins In Drosophila Meiosis, Avik Mukherjee
Doctoral Dissertations
Meiosis is essential for sexual reproduction. The proper segregation of chromosomes in meiosis requires multiple functions of a multi-subunit protein complex known as cohesin. Cohesin forms a ring around duplicated sister chromatids and prevents them from separating prematurely. In Drosophila, mitotic cohesin is composed of four subunits: SMC1 and SMC3 and SCC1/RAD21 and SCC3/SA and are required for mitotic cohesion. However, RAD21 is dispensable for meiotic cohesion and although SMC1 and SMC3 are present on meiotic centromeres and on synapsed chromosome arms, as expected, their functions in meiosis remain poorly characterized. Moreover, unlike in other eukaryotes in which screens for …
Tetrameric Photosystem I: From Initial Discovery And Characterization In Chroococcidiopsis Sp. Ts-821 To Exploration Of Its Distribution And Understanding Of Its Significance In Cyanobacteria, Meng Li
Doctoral Dissertations
Photosystem I (PSI) forms trimeric complexes in most characterized cyanobacteria. We had reported the tetrameric form of PSI in the unicellular cyanobacterium, Chroococcidiopsis sp. TS-821 (TS-821). Using Cryo-EM, a 3D model of the PSI tetramer structure at 11.5 [Angstrom] resolution was obtained and a 2D map within the membrane plane of at 6.1 [Angstrom]. In contrast to the three-fold symmetry in trimeric PSI crystal structure from T. elongatus, two different inter-monomer interactions involving PsaLs are found in the PSI tetramer. Phylogenetic analysis based on PsaL protein sequences shows that TS-821 is closely related to heterocyst-forming cyanobacteria. Additionally, this tetrameric …
Punctuated Evolution Within A Eurythermic Genus (Mesenchytraeus) Of Segmented Worms: Genetic Modification Of The Glacier Ice Worm F1f0 Atp Synthase, Shirley A. Lang
Punctuated Evolution Within A Eurythermic Genus (Mesenchytraeus) Of Segmented Worms: Genetic Modification Of The Glacier Ice Worm F1f0 Atp Synthase, Shirley A. Lang
Graduate School of Biomedical Sciences Theses and Dissertations
Segmented worms (Annelida) are among the most successful animal inhabitants of extreme environments worldwide. An unusual group of Mesenchytraeus worms endemic to the Pacific Northwest of North America occupy geographically proximal ecozones ranging from low elevation temperate rainforests to high altitude glaciers. Along this altitudinal transect, Mesenchytraeus representatives from disparate habitat types were collected and subjected to deep mitochondrial and nuclear phylogenetic analyses. Evidence presented here employing modern bioinformatic analyses (i.e., maximum likelihood, Bayesian inference, multi-species coalescent) supports a Mesenchytraeus “explosion” in the upper Miocene (5-10 million years ago) that gave rise to ice, snow and terrestrial worms, derived from …
Genetic Determinants Of Salmonella And Campylobacter Required For In Vitro Fitness, Rabindra Kumar Mandal
Genetic Determinants Of Salmonella And Campylobacter Required For In Vitro Fitness, Rabindra Kumar Mandal
Graduate Theses and Dissertations
Non-typhoidal Salmonella (NTS) and Campylobacter play a major role in foodborne illness caused by the consumption of food contaminated by pathogens worldwide. A comprehensive understanding of the genetic factors that increase the survival fitness of these foodborne pathogens will effectively help us formulate mitigation strategies without affecting the nutrition ecology. The objective of this study was to identify the genetic determinants of Salmonella and Campylobacter that are required for fitness under various in vitro conditions. For the purpose, we used a high throughput Transposon sequencing (Tn-seq) that utilizes next generation sequencing (NGS) to screen hundreds of thousands of mutants simultaneously. …
A Population Genetics Study Of Discula Destructiva, The Causal Agent Of Dogwood Anthracnose, Kristie Lynn Mantooth
A Population Genetics Study Of Discula Destructiva, The Causal Agent Of Dogwood Anthracnose, Kristie Lynn Mantooth
Masters Theses
Flowering dogwood (Cornus florida L.) is prized as an ornamental and contributes millions of dollars to the economy through tourism and sales each year. Dogwood anthracnose, caused by Discula destructiva Redlin, was observed in the late 1970s on the east and west coasts of the United States and by 1991 had quickly spread throughout much of the native ranges of C. florida and C. nuttalli. The objectives of this study were to investigate the genetic diversity and population structure of D. destructiva using simple sequence repeats (SSRs), and to test the cross-transferability of these markers to other Discula …
Identification And Characterization Of Genes Involved In Metabolism Of N5 Monoene Precursors To N5 Anacardic Acids In The Trichomes Of Pelargonium X Hortorum., Richa A. Singhal
Identification And Characterization Of Genes Involved In Metabolism Of N5 Monoene Precursors To N5 Anacardic Acids In The Trichomes Of Pelargonium X Hortorum., Richa A. Singhal
Electronic Theses and Dissertations
Unusual monoenoic fatty acids (UMFA’s) and specialized metabolites called anacardic acids (AnAc) are produced in glandular trichomes of Pelargonium ´ hortorum (geranium). The UMFA’s, 16:1∆11 and 18:1∆13 are precursors for the synthesis of unsaturated AnAc 22:1n5and 24:1n5 that contribute to pest resistance in geraniums. UMFAs and their derived AnAc metabolites not only provide a useful biological marker that differentiates the biosynthetic pathway for unusual mononenes from the common fatty acids (i.e. stearic, palmitic, oleic, linoleic and linolenic) but also have industrial, medical and agricultural applications. Fatty acid biosynthesis enzymes like acyl carrier proteins (ACPs); thioesterases (TEs) and β-ketoacyl-ACP …
Exploring Molecular Mechanisms Of Paradoxical Activation In The Braf Kinase Dimers: Atomistic Simulations Of Conformational Dynamics And Modeling Of Allosteric Communication Networks And Signaling Pathways, Amanda Tse, Gennady M. Verkhivker
Exploring Molecular Mechanisms Of Paradoxical Activation In The Braf Kinase Dimers: Atomistic Simulations Of Conformational Dynamics And Modeling Of Allosteric Communication Networks And Signaling Pathways, Amanda Tse, Gennady M. Verkhivker
Mathematics, Physics, and Computer Science Faculty Articles and Research
The recent studies have revealed that most BRAF inhibitors can paradoxically induce kinase activation by promoting dimerization and enzyme transactivation. Despite rapidly growing number of structural and functional studies about the BRAF dimer complexes, the molecular basis of paradoxical activation phenomenon is poorly understood and remains largely hypothetical. In this work, we have explored the relationships between inhibitor binding, protein dynamics and allosteric signaling in the BRAF dimers using a network-centric approach. Using this theoretical framework, we have combined molecular dynamics simulations with coevolutionary analysis and modeling of the residue interaction networks to determine molecular determinants of paradoxical activation. We …
The Life Cycle Stages Of Pneumocystis Murina Have Opposing Effects On The Immune Response To This Opportunistic Fungal Pathogen, Heather M. Evans, Grady L. Bryant Iii, Beth A. Garvy
The Life Cycle Stages Of Pneumocystis Murina Have Opposing Effects On The Immune Response To This Opportunistic Fungal Pathogen, Heather M. Evans, Grady L. Bryant Iii, Beth A. Garvy
Microbiology, Immunology, and Molecular Genetics Faculty Publications
The cell wall β-glucans of Pneumocystis cysts have been shown to stimulate immune responses in lung epithelial cells, dendritic cells, and alveolar macrophages. Little is known about how the trophic life forms, which do not have a fungal cell wall, interact with these innate immune cells. Here we report differences in the responses of both neonatal and adult mice to the trophic and cystic life cycle stages of Pneumocystis murina. The adult and neonatal immune responses to infection with Pneumocystis murina trophic forms were less robust than the responses to infection with a physiologically normal mixture of cysts and …
Sequence Annotation & Designing Gene-Specific Qpcr Primers (Computational), Ray A. Enke
Sequence Annotation & Designing Gene-Specific Qpcr Primers (Computational), Ray A. Enke
Ray Enke Ph.D.
- Obtaining and annotating genomic DNA and mRNA sequence information
- Designing primers for quantitative PCR (qPCR) analysis of a cDNA library
Qpcr Primer Standard Curve Assay (Wet Lab) + Kegg Pathway Analysis (Computational), Ray A. Enke
Qpcr Primer Standard Curve Assay (Wet Lab) + Kegg Pathway Analysis (Computational), Ray A. Enke
Ray Enke Ph.D.
- analyzing qPCR standard curve data to determine primer efficiency
- analyzing differential gene expression experimental qPCR data
- applying KEGG pathway analysis of selected candidates genes
Exploring The Space Of Rna Secondary Structures, Heather C. Smith
Exploring The Space Of Rna Secondary Structures, Heather C. Smith
Annual Symposium on Biomathematics and Ecology Education and Research
No abstract provided.
Rna-Seq Of Borrelia Burgdorferi In Multiple Phases Of Growth Reveals Insights Into The Dynamics Of Gene Expression, Transcriptome Architecture, And Noncoding Rnas, William K. Arnold, Christina R. Savage, Catherine A. Brissette, Janakiram Seshu, Jonathan Livny, Brian Stevenson
Rna-Seq Of Borrelia Burgdorferi In Multiple Phases Of Growth Reveals Insights Into The Dynamics Of Gene Expression, Transcriptome Architecture, And Noncoding Rnas, William K. Arnold, Christina R. Savage, Catherine A. Brissette, Janakiram Seshu, Jonathan Livny, Brian Stevenson
Microbiology, Immunology, and Molecular Genetics Faculty Publications
Borrelia burgdorferi, the agent of Lyme disease, differentially expresses numerous genes and proteins as it cycles between mammalian hosts and tick vectors. Insights on regulatory mechanisms have been provided by earlier studies that examined B. burgdorferi gene expression patterns during cultivation. However, prior studies examined bacteria at only a single time point of cultivation, providing only a snapshot of what is likely a dynamic transcriptional program driving B. burgdorferi adaptations to changes during culture growth phases. To address that concern, we performed RNA sequencing (RNA-Seq) analysis of B. burgdorferi cultures at early-exponential, mid-exponential, and early-stationary phases …
Profiling Populations Using Neutral Markers, Major Histocompatibility Complex Genes And Volatile Organic Compounds As Modeled In Equus Caballus Linnaeus, Ketaki Deshpande
Profiling Populations Using Neutral Markers, Major Histocompatibility Complex Genes And Volatile Organic Compounds As Modeled In Equus Caballus Linnaeus, Ketaki Deshpande
FIU Electronic Theses and Dissertations
Assessing the genetics of wild animal populations aims to understand selective pressures, and factors whether it be inbreeding or adaptation, that affect the genome. Although numerous techniques are available for assessing population structure, a major obstacle in studying wild populations is obtaining samples from the animals without having to capture them, which can lead to undue distress and injury. Therefore, biologists often use non-invasive sampling methods (i.e., collection of feces, hair) to extract host DNA. In this study, new DNA extraction protocols were developed that improved the quality and quantity of DNA obtained from fecal matter. Fecal samples aged up …
Replication-Transciption Switch In Human Mitochondria, Karen Agaronyan
Replication-Transciption Switch In Human Mitochondria, Karen Agaronyan
Graduate School of Biomedical Sciences Theses and Dissertations
Coordinated replication and expression of mitochondrial genome is critical for metabolically active cells during various stages of development. However, it is not known whether replication and transcription can occur simultaneously without interfering with each other and whether mtDNA copy number can be regulated by the transcription machinery. Human mitochondrial RNA polymerase (mtRNAP) is a central enzyme involved in gene expression in mitochondria. It generates genome-size polycistronic transcripts and also makes replication primers at two origins of replication. MtRNAP is distantly related to phage T7 RNAP. While T7 RNAP is optimized to produce large amounts of transcripts to overcompete the bacterial …
Molecular Analysis Of Ftsz-Ring Assembly In E. Coli Cytokinesis, Kuo-Hsiang Huang
Molecular Analysis Of Ftsz-Ring Assembly In E. Coli Cytokinesis, Kuo-Hsiang Huang
Dissertations, Theses, and Capstone Projects
An essential first step in bacterial division is the assembly of a cytokinetic ring (Z-ring) formed by the tubulin-like FtsZ at midcell. The highly conserved core domain of FtsZ has been reported to mediate assembly of FtsZ polymers in vivo and in vitro. Species-specific differences in the FtsZ C-terminal domain such as the FtsZ CTV region and interactions with several modulatory proteins such as ZapC and ZapD, restricted to certain bacterial classes, also serve as key determinants of FtsZ protofilament bundling. Here, we characterize (i) the roles of the FtsZ CTV region in mediating both longitudinal and lateral interactions …
The Regulation Of The Phosphatidate Phosphatase Gene Pah1 And Its Regulatory Role On Cell Homeostasis, Goldie Libby Sherr
The Regulation Of The Phosphatidate Phosphatase Gene Pah1 And Its Regulatory Role On Cell Homeostasis, Goldie Libby Sherr
Dissertations, Theses, and Capstone Projects
The Saccharomyces cerevisiae gene, PAH1, encodes a phosphatidate (PA) phosphatase that plays a fundamental role in lipid metabolism. PA phosphatases are key enzymes that catalyze the PA dephosphorylation reaction to form diacylglycerides, the first step in the synthesis of triacylglycerols. Pah1p, one of the main PA phosphatases in yeast, has not only emerged as a key player in lipid biosynthetic pathways, but also acts as an important regulator of nuclear membrane biogenesis, the transcriptional regulation of many inositol-sensitive upstream activating sequence (UASINO)containing genes needed for phospholipid synthesis, vacuole homeostasis, and lipid droplet formation. Due to its …
Beyond Bivariate Correlations: Three-Block Partial Least Squares Illustrated With Vegetation, Soil, And Topography, Daehyun Kim, Thomas J. Dewitt, César S. B. Costa, John A. Kupfer, Ryan W. Mcewan, J. Anthony Stallins
Beyond Bivariate Correlations: Three-Block Partial Least Squares Illustrated With Vegetation, Soil, And Topography, Daehyun Kim, Thomas J. Dewitt, César S. B. Costa, John A. Kupfer, Ryan W. Mcewan, J. Anthony Stallins
Ryan McEwan
Ecologists, particularly those engaged in biogeomorphic studies, often seek to connect data from three or more domains. Using three-block partial least squares regression, we present a procedure to quantify and define bi-variance and tri-variance of data blocks related to plant communities, their soil parameters, and topography. Bi-variance indicates the total amount of covariation between these three domains taken in pairs, whereas tri-variance refers to the common variance shared by all domains. We characterized relationships among three domains (plant communities, soil properties, topography) for a salt marsh, four coastal dunes, and two temperate forests spanning several regions in the world. We …
Telomere Length Variation In Preschool Children: Associations With Chronic Family Stress, Maternal Depression, And Cortisol Reactivity, Aditi Thakur
Electronic Thesis and Dissertation Repository
Telomeres are repetitive nucleotide repeats of TTAGGG sequences located at the two ends of each chromosome. Telomeres protect DNA from degradation and maintain genomic stability. Shorter telomeres are implicated in different diseases and disorders including psychiatric disorders. I measured buccal cell telomere length (TL) in 384 pre-school children (3-4 years), from Southwestern Ontario using monochrome multiplex qPCR method. I assessed the associations between TL and family, child-specific variables. I did not find a significant correlation between TL and maternal depression, chronic family stress, or age and sex of the children. However, I found a significant positive correlation between TL and …
Multi-Gene Resistance To Neonicotinoids In The Colorado Potato Beetle, Leptinotarsa Decemlineata, Emine Kaplanoglu
Multi-Gene Resistance To Neonicotinoids In The Colorado Potato Beetle, Leptinotarsa Decemlineata, Emine Kaplanoglu
Electronic Thesis and Dissertation Repository
The Colorado potato beetle, Leptinotarsa decemlineata, is a significant pest of potato, and its impact on agriculture is measured on a global scale. The beetle is mainly controlled by neonicotinoid insecticides, however, resistance development is a growing concern. Resistance to neonicotinoids is thought to involve elevated activity of detoxifying enzymes and xenobiotic transporters that break-down and excrete insecticide molecules. Here, using mRNA sequencing, I identified multiple detoxifying enzyme and xenobiotic transporter genes transcriptionally up-regulated in a neonicotinoid resistant strain of beetles. I then used RNA interference to knock down the transcript levels of the ten most promising genes in …
Iron Acquisition Strategies Employed By Staphylococcus Lugdunensis, Jeremy R. Brozyna
Iron Acquisition Strategies Employed By Staphylococcus Lugdunensis, Jeremy R. Brozyna
Electronic Thesis and Dissertation Repository
Iron is crucial for many cellular processes including DNA synthesis and respiration. The majority of iron in mammals is in heme within hemoproteins, inside cells, or transported through circulation by the glycoprotein transferrin, which constitutes the greatest iron source in serum. Limiting iron availability is an important facet of nutritional immunity to help prevent infection.
Staphylococcus lugdunensis is a human skin commensal and opportunistic pathogen capable of causing a variety of infections, including particularly aggressive endocarditis. It is an emerging pathogen with elevated virulence compared to other species of coagulase-negative staphylococci. The versatility of S. lugdunensis to infect multiple niches …
Genetic Landscape Of Pediatric Myelodysplastic Syndromes, Jennifer E. Grove
Genetic Landscape Of Pediatric Myelodysplastic Syndromes, Jennifer E. Grove
Theses & Dissertations
Myelodysplastic syndromes (MDS) are acquired heterogeneous hematopoietic clonal disorders primarily seen in the adult and elderly populations that presents a variety of cellular morphologies in cell lineages, varying prognoses, and differences in overall survival (OS) between individual patients. The occurrence of MDS in the pediatric and young adult population, or those between the ages of 0 and 29, is slowly on the rise. Pediatric and elderly cases exhibit diverse cytogenetic findings with differences in OS. The characterization of the genetic landscape of pediatric MDS is limited and most studies detailing genetic changes have been conducted in adult MDS cases. In …
Nucleoporin-Mediated Regulation Of The Kcnq1ot1 Imprinted Domain, Saqib Sachani
Nucleoporin-Mediated Regulation Of The Kcnq1ot1 Imprinted Domain, Saqib Sachani
Electronic Thesis and Dissertation Repository
Genomic imprinting is an epigenetic phenomenon that restricts gene expression to one parental allele while the other copy is silent. How this duality is regulated is not fully understood. Using the Kcnq1ot1 imprinted domain as a model, previous work in the laboratory identified nucleoporin 107 as a candidate regulator of imprinted domain regulation. Within the Kcnq1ot1 domain resides the imprinting control region, the paternally expressed Kcnq1ot1 (Kcnq1 opposite transcript 1) noncoding RNA, nine maternal-expressed protein-coding genes, as well as genes that escape imprint regulation. On the maternal allele, the Kcnq1ot1 imprinting control region is methylated, silencing the embedded Kcnq1ot1 …
Assisted Reproductive Technologies Disrupt Genomic Imprinting In Human And Mitochondria In Mouse Embryos, Carlee R. White
Assisted Reproductive Technologies Disrupt Genomic Imprinting In Human And Mitochondria In Mouse Embryos, Carlee R. White
Electronic Thesis and Dissertation Repository
Infertile couples worldwide use assisted reproductive technologies (ARTs) to help conceive their own biological child. Due to the rising use of ARTs, there is continual emergence of new techniques implemented in human fertility clinics. When treatment is successful, there is an increased risk even within singletons for perinatal complications including preterm birth, intrauterine growth restriction, low and high birth weight and genomic imprinting disorders Beckwith Wiedemann Syndrome, Angelman Syndrome, and Silver-Russel Syndrome. Consequently, there is a need to investigate the effects of these treatments on the manipulated oocyte and preimplantation embryo. To address this, I first analyzed the combined effects …