Genetics and Genomics Commons^™

158— Optimization And Development Of The Luria-Delbrück Experiment For Geneseo Genetics Labs, Abigail Scheffler

GREAT Day

The classic genetics experiment by Salvador Luria and Max Delbruck showed that mutations are present prior to selection rather than arising in response to selective pressures. In this experiment, we used Escherichia coli as our model organism and the antibiotics streptomycin and rifampicin to show students in a laboratory setting how this hypothesis can be applied. Specifically, we optimized antibiotic concentrations and the amount of bacterial cells to use in order for the activity to run smoothly and consistently in a student laboratory. We found that the ideal conditions are 1000 cells/ml and 25 micrograms/ml of streptomycin. These ...

Biol 250: Curly Hair Trait: Homozygous Or Heterozygous, Kaysi Bing

Student Showcase for Research and Creative Inquiry

Research Aim: To connect the SNP rs17646946 AG genotype and curly hair

Hypothesis: People expressing a GG genotype at the SNP rs17646946 are most likely to have the curly hair trait

A Transcriptional Regulatory Network Of Rsv3-Mediated Extreme Resistance Against Soybean Mosaic Virus, Lindsay C. Demers, Neelam R. Redekar, Aardra Kachroo, Sue A. Tolin, Song Li, M. A. Saghai Maroof

Plant Pathology Faculty Publications

Resistance genes are an effective means for disease control in plants. They predominantly function by inducing a hypersensitive reaction, which results in localized cell death restricting pathogen spread. Some resistance genes elicit an atypical response, termed extreme resistance, where resistance is not associated with a hypersensitive reaction and its standard defense responses. Unlike hypersensitive reaction, the molecular regulatory mechanism(s) underlying extreme resistance is largely unexplored. One of the few known, naturally occurring, instances of extreme resistance is resistance derived from the soybean Rsv3 gene, which confers resistance against the most virulent Soybean mosaic virus strains. To discern the regulatory ...

Advanced Phenotyping Of Otosclerosis In An Ontario Population And Two Large Newfoundland Families, Matthew B. Lucas

Electronic Thesis and Dissertation Repository

Otosclerosis is a relatively common hearing loss disorder characterized by abnormal bone growth in the otic capsule leading to stapes fixation. In approximately half of cases, otosclerosis is inherited as an autosomal dominant trait. Typically, gene discovery efforts rely on surgical confirmation, audiometry and occasionally acoustic reflexes to identify affected cases of otosclerosis within families, requiring that the otosclerosis was at an advanced stage to be detected. This makes it difficult to identify individuals with early otosclerosis. The use of advanced phenotyping to identify cases of otosclerosis was tested in an Ontario otosclerotic population as well as in two large ...

Toxins Produced By Staphylococcus Aureus, Courtney Carlson

Research and Scholarship Symposium Posters

The focus of this study was to analyze the presence of toxin genes from Staphylococcus aureus, such as alpha toxin and toxic shock syndrome toxin-1 (TSST-1). The bacteria’s genomic DNA was amplified via Polymerase Chain Reaction (PCR) and visualized through DNA gel electrophoresis. Clinical isolates that were known to be positive for the specific toxin genes were used as positive controls.

No Association Between An Oxytocin Receptor Genetic Variant And Depressive Symptoms, Rachel Sisley, Grace Sullivan, Scott Stoltenberg Ph. D.

UCARE Research Products

• Depression has the greatest impact on daily functioning capability of all diseases and adversely effects individuals globally (Flint & Kendler, 2014). • Human capital value of these losses has been about $40 billion dollars annually (Kessler, 2012). • Analysis of the genetic and biological systems associated with depressive symptoms, such as the oxytocin system, could lead to identifying risk variants and possible treatment development. • Genetic Variation in OXTR is associated with a variation in depressive symptoms including low selfesteem, pessimism, and low self-efficacy, etc. (Conner et al., 2018). • The A allele of the SNP rs53576 is considered the risk allele as it’s associated with decreased pro-social behavior and increased loneliness and suicide attempts (Parris et. Al., 2018) • The exact mechanism has not been identified, but G/G homozygotes recorded to have higher oxytocin levels, associated with increased emotional responsiveness (Marsh et al., 2012; Tost et al., 2010) • We hypothesize that: (1) individuals possessing the A allele of the rs53576 SNP of OXTR will have more depressive symptoms on average. (2) Females will have more depressive symptoms on average. (3) There is an interaction between genotype and biological sex, as A allele females will have more depressive symptoms on average.

Dolphinnext: A Distributed Data Processing Platform For High Throughput Genomics, Onur Yukselen, Osman Turkyilmaz, Ahmet R. Ozturk, Manuel Garber, Alper Kucukural

Open Access Articles

BACKGROUND: The emergence of high throughput technologies that produce vast amounts of genomic data, such as next-generation sequencing (NGS) is transforming biological research. The dramatic increase in the volume of data, the variety and continuous change of data processing tools, algorithms and databases make analysis the main bottleneck for scientific discovery. The processing of high throughput datasets typically involves many different computational programs, each of which performs a specific step in a pipeline. Given the wide range of applications and organizational infrastructures, there is a great need for highly parallel, flexible, portable, and reproducible data processing frameworks. Several platforms currently ...

Broad Host Range Of Sars-Cov-2 Predicted By Comparative And Structural Analysis Of Ace2 In Vertebrates [Preprint], Joana Damas, Elinor K. Karlsson, Harris A. Lewin

University of Massachusetts Medical School Faculty Publications

The novel coronavirus SARS-CoV-2 is the cause of Coronavirus Disease-2019 (COVID-19). The main receptor of SARS-CoV-2, angiotensin I converting enzyme 2 (ACE2), is now undergoing extensive scrutiny to understand the routes of transmission and sensitivity in different species. Here, we utilized a unique dataset of 410 vertebrates, including 252 mammals, to study cross-species conservation of ACE2 and its likelihood to function as a SARS-CoV-2 receptor. We designed a five-category ranking score based on the conservation properties of 25 amino acids important for the binding between receptor and virus, classifying all species from very high to very low. Only mammals fell ...

Single-Cell Analysis Of Upper Airway Cells Reveals Host-Viral Dynamics In Influenza Infected Adults, Yuming Cao, Zhiru Guo, Pranitha Vangala, Elisa Donnard, Ping Liu, Patrick Mcdonel, Jose Ordovas Montanes, Alex K. Shalek, Robert W. Finberg, Jennifer P. Wang, Manuel Garber

University of Massachusetts Medical School Faculty Publications

Influenza virus infections are major causes of morbidity and mortality. Research using cultured cells, bulk tissue, and animal models cannot fully capture human disease dynamics. Many aspects of virus-host interactions in a natural setting remain unclear, including the specific cell types that are infected and how they and neighboring bystander cells contribute to the overall antiviral response. To address these questions, we performed single-cell RNA sequencing (scRNA-Seq) on cells from freshly collected nasal washes from healthy human donors and donors diagnosed with acute influenza during the 2017-18 season. We describe a previously uncharacterized goblet cell population, specific to infected individuals ...

Using Crispr/Cas9 Gene Editing To Remove Twist2 To Determine Its Role During Somite Development In Zebrafish, Caleb Holdener

Belmont Undergraduate Research Symposium (BURS)

Embryonic Mesoderm is a precursor to various types of tissues, such as the somatic mesoderm. Somites are a segmented tissue that gives rise to the sclerotome in vertebrates. This sclerotome further develops into the axial skeleton (Stickney, Barresi, and Devoto 2000). Somites are easily observable under low power microscopy during fish development. In fish, great strides have been made in studying the developmental fate of somites (Stoiber, Haslett, and Sänger 1999; Stickney, Barresi, and Devoto 2000). Zebrafish have been studied in many labs due to their similarities with higher vertebrates. These advantages include their inexpensive cost of care, external fertilization ...

Utilizing Crispr/Cas9 Gene Editing Determine The Role Of Cnr1 During Zebrafish Development, Ellis Chase

Belmont Undergraduate Research Symposium (BURS)

The CRISPR-Cas 9 system is a process used to create mutations, insertions, or deletions within a desired gene. It can be used to create mutant organisms necessary to study the function and impact of a particular gene¹. Cannabinoids are active chemicals found in cannabis, the most common of which being cannabinol (CBD)². Cannabinoid receptors are an integral part of the endocannabinoid system, recognizing cannabinoid signals to promote physiological processes like pain sensation, memory, mood, and appetite³. Studying these cannabinoid receptors can provide insight into how cannabis can affect bodily processes.

Zebrafish are small translucent freshwater fish residing ...

Utilizing Crispr/Cas9 Gene Editing Determine The Role Of Cnr1 During Zebrafish Development, Camme Sells

Belmont Undergraduate Research Symposium (BURS)

In a world where cannabinoids are being used more frequently as for medicinal purposes, the importance for research on cannabinoid biology is steadily increasing. The goal of this study was to gain a greater understanding of the effect cannabinoids have on developing zebrafish embryos. Work in this area of developmental biology could give way to an understanding of the safety of a human fetus during pregnancy with a mother who uses cannabis medicinal therapy. The CRISPR/Cas 9 system was utilized in this study to genetically edit the zebrafish embryo genome to remove the function of the Cannabinoid Receptor 1 ...

Expression Of Tgf-Beta Ligands During Sclerotome Development, Estela Williams

Belmont Undergraduate Research Symposium (BURS)

During early embryogenesis in vertebrates, somites are formed by the segmentation of the presomitic mesoderm (Gomez, Ozbudak, Wunderlich, Baumann. Lewis and Pourquie 2008). The somite possesses several domains within it and the ventral part of the somite is called the sclerotome. The sclerotome gives rise to the axial skeleton and tendons. Twist 1b and Twist 2 are genes that are expressed in the sclerotome during axial skeletal development. Our experiments were developed to help understand the roles of Twist1b and Twist2 in tendon development. By utilizing microinjection to alter gene expression, the Twist 1b and Twist 2 genes can be ...

Scleraxis Expression Within The Axial Tendon Population In Zebrafish, Jessica Bernaba

Belmont Undergraduate Research Symposium (BURS)

Zebrafish are a well-established model organism for vertebrate development. During embryonic development, a pattern of segmentation of mesoderm yields somites, which give rise to specific cell fates. Somites, bilateral blocks of mesoderm along the neural tube in developing vertebrate embryos, subdivide into sclerotome as the vertebrate matures. Depending on migratory position, sclerotome cells give rise to various components of the axial skeletal system, including bone, cartilage, and tendon. Each fate is determined by gene expressions within the sclerotome and occupy distinct domains of the body plan. By method of in situ hybridization, we studied the expression of the scleraxis (scxa ...

Exploring The Role Of Tgfbr2 During Zebrafish Sclerotome Development, Nooralhuda Feron

Belmont Undergraduate Research Symposium (BURS)

Zebrafish, Danio rerio, are used as a source model organism for human development of the tendons, bones, and ligaments. The sclerotome is an embryonic structure known as the somite. The sclerotome gives rise to axial bones and tendons. During development, different genes are involved and affect how these skeletal tissues develop. Specifically, within this project, the effects of Twist1b and Twist2 were studied to see their effects on tendon formation, as they are expressed within the developing sclerotome tissue. Transforming growth factor beta receptor type-2 (Tgfbr2) has been shown to be involved in tendon formation (Subramanian, Kanzaki, Galloway and Schilling ...

Enhancement Of Nkx3.2 Expression After Twist1b And Twist2 Knockdown In Zebrafish, Peyton Yearick

Belmont Undergraduate Research Symposium (BURS)

Somitogenesis is a developmental event patterned by cellular signaling during gastrulation, ending around 30-hours post fertilization. Somites are segmented regions of mesoderm along the dorsal side of the body which form paraxial mesoderm in Danio rerio, zebrafish. Somite development results in the formation of the subcompartment called sclerotome, which differentiates to form the axial skeleton and associated tendons (Stickney et al., 2000). Further differentiation allows for sclerotome progenitor cell to develop into bone, muscle, tendon, and cartilage through sclerotome migration along the mesoderm. A portion of sclerotome cells migrate anterior towards the neural tube, where they will form the vertebral ...

Twist1b Knockout Generation In Zebrafish Using Crispr-Cas9, Grace Hurley

Belmont Undergraduate Research Symposium (BURS)

The Twist gene is found in numerous organisms, including humans, mice and zebrafish (Yeo et al., 2009). It is a vital gene in development and is needed for the organism to survive (Yeo et al., 2009). Specifically, the Twist gene family aids in specialization and differentiation of mesodermal cells, telling somites, segmented blocks of mesoderm, what to become (Germanguz et al., 2007). Over time, the Twist gene has duplicated into paralogs, each having differences in their functions (Germanguz et al., 2007). Twist1b is a protein coding gene that is a paralog to the human Twist1 gene (ZFIN, 2020). In zebrafish ...

Whole Genome Sequencing For Mutation Discovery In A Single Case Of Lysosomal Storage Disease (Mps Type 1) In The Dog, Tamer A. Mansour, Kevin D. Woolard, Karen L. Vernau, Devin M. Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch

Veterinary Clinical Sciences Publications

Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans. A 15-month-old Boston Terrier presented with clinical signs consistent with lysosomal storage disease including corneal opacities, multifocal central nervous system disease and progressively worsening clinical course. Diagnosis was confirmed at necropsy based on histopathologic evaluation of multiple organs demonstrating accumulation of mucopolysaccharides. Whole genome sequencing was used to uncover a frame-shift insertion affecting the alpha-L-iduronidase (IDUA) gene (c.19_20insCGGCCCCC), a mutation confirmed in another Boston Terrier presented 2 years later with a similar clinical picture. Both dogs were homozygous ...

Chemical Communication In Songbirds, Leanne A. Grieves

Electronic Thesis and Dissertation Repository

Avian chemical communication has been understudied due to the misconception that olfaction is unimportant or even lacking in birds. Early work focused on the olfactory foraging capabilities of seabirds because of their ecology (open ocean foraging) and large olfactory bulbs. In contrast, olfaction in passerine birds, comprising over half of all extant avian taxa, was long overlooked due to their relatively small olfactory bulbs. It is now well established that passerines can smell, and their olfactory acuity is comparable to that of macrosmatic mammals such as rats. Much of our theory on communication and mate choice has involved studying visual ...

Dbf4-Dependent Kinase (Ddk)-Mediated Proteolysis Of Cenp-A Prevents Mislocalization Of Cenp-A In Saccharomyces Cerevisiae, Jessica R. Eisenstatt, Lars Boeckmann, Wei-Chun Au, Valerie Garcia, Levi Bursch, Josefina Ocampo, Michael Costanzo, Michael Weinreich, Robert A. Sclafani, Anastasia Baryshnikova, Chad L. Myers, Charles Boone, David J. Clark, Richard E. Baker, Munira A. Basrai

Open Access Articles

The evolutionarily conserved centromeric histone H3 variant (Cse4 in budding yeast, CENP-A in humans) is essential for faithful chromosome segregation. Mislocalization of CENP-A to non-centromeric chromatin contributes to chromosomal instability (CIN) in yeast, fly, and human cells and CENP-A is highly expressed and mislocalized in cancers. Defining mechanisms that prevent mislocalization of CENP-A is an area of active investigation. Ubiquitin-mediated proteolysis of overexpressed Cse4 (GALCSE4) by E3 ubiquitin ligases such as Psh1 prevents mislocalization of Cse4, and psh1Delta strains display synthetic dosage lethality (SDL) with GALCSE4. We previously performed a genome-wide screen and identified five alleles of CDC7 and DBF4 ...