Genetics and Genomics Commons^™

The Role Of Placental Genes On Intellectual Disability And Developmental Delay, Maedot A. Yidenk

Dissertations, Theses, and Capstone Projects

The complex interaction between gene expressions and environmental factors plays a key role in the pathogenesis of various diseases, including neurodevelopmental disorders (Lenroot & Giedd, 2008). This study aimed to evaluate first, the magnitude of association between placental gene Methyl-CpG Binding Protein 2 (MeCP2) and intellectual disability (ID) in the offspring and second, the synergy between placental gene Forkhead box protein 1(FOXP1) and developmental delay (DD) in the offspring. We focused on assessing two specific paradigms, i) placental gene expressions of MeCP2 among children that have ID vs. children without ID; and ii) placental gene expression of FOXP1 among children that have DD vs. children without DD. We measured the presence and severity of ID using Full Scale Intelligence Quotient (FSIQ) derived from the Wechsler Preschool & Primary Scale of Intelligence IV (WPPSI-IV) as well as the presence and severity of DD using a composite score from Bayley Scales of Infant Development (Bayley-III) and examined gene expressions of MeCP2 and FOXP1 in the placenta. Previous studies found concrete evidence that both MeCP2 and FOXP1 are implicated with neurodevelopmental disorders such as ID and DD (Chahrour et al., 2008; Meerschaut et al., 2017). We proposed to test whether hyper expressions of those two genes (MeCP2 and FOXP1) in placenta will be associated with children that have higher intellectual and developmental scores. We further examined the influence of prenatal stress, as measured ...

Analysis Of Differential Gene Expression Patterns During Spiral Intestine Development In Leucoraja Erinacea, Kelsey Cox

Honors Theses

The vertebrate gut is a specialized structure responsible for the intake and digestion of food, absorption of nutrients, and expulsion of waste products. The organs of the digestive tract have been conserved over time, but modifications to the size and shape of individual structures exist within the different vertebrate lineages. The skate’s spiral intestine has evolved to maximize nutrient absorption within a compact structure to create space in the body cavity for the organs needed for buoyancy. Studying the unique intestinal morphology of Leucoraja erinacea, or the little skate, provides an opportunity to understand the role of differential gene ...

Molecular Mechanisms Underlying Cell Fate Choice Within Specific Retinal Lineages, Estie Schick

Dissertations, Theses, and Capstone Projects

During development, retinal progenitor cells (RPCs) divide to form all of the cell types that make up the retina. Multipotent RPCs are competent to generate all retinal cell types, while restricted RPCs form specific lineages of cells. In particular, one genetically-defined RPC type preferentially gives rise to cone photoreceptors and horizontal cells. Many of the mechanisms that are responsible for directing cell fate choice within this lineage are unknown. This thesis largely focuses on examining the development of specific cell types and subtypes from restricted RPCs and on investigating the gene regulatory events that underlie cone photoreceptor and horizontal cell ...

Microbial-Host Dynamics And The Evolution Of Nearshore Diversity In Hippocampus Abdominalis, Jimiane L. Ashe

Dissertations, Theses, and Capstone Projects

Local adaptation is a fundamental concept at the core of evolutionary process. Devising means to break down larger concepts and systematically test internal mechanisms are key to understanding the driving forces behind the influence of environmental differences on biological systems. To understand dynamic processes in the natural world, we must strip away layers and confounding variables that may mask the signal we hope to understand. In this case seahorse species, Hippocampus abdominalis, or the pot-bellied seahorse, made an unlikely but ideal study system. The first layer to strip away was neutral genetic variation within the population. A multilocus genetic dataset ...

Genomic And Ecological Dimensions Of Malagasy Reptile And Amphibian Biodiversity, Arianna L. Kuhn

Dissertations, Theses, and Capstone Projects

A long history of isolation coupled with complex topographic and ecological landscapes makes Madagascar ideal for exploring the historical factors that have shaped patterns of population diversity and endemism. Many species-level studies have suggested Late Quaternary climate change may have influenced population dynamics in the tropics, but Madagascar’s ecologically unique biomes or individual species properties may have driven idiosyncratic responses to these shifts. Using community-scale population genetic data I implement a hierarchical approximate Bayesian computation (hABC) approach to evaluate the degree of synchronous population expansion during glacial cycles across herpetofaunal assemblages both within and across discrete biomes and taxonomic ...

Influence Of Drd4 Receptor Gene Polymorphism On Aspirational Quality And Approach Motivation, Harry Henry-Ojo

ATU Theses and Dissertations

The present study investigates the presence of a molecular genetic basis of the quality of aspiration and motivation for behavior described by Ryan and Deci’s self-determination theory and Gray’s biopsychological theory of personality respectively. In this study, investigation was carried out to determine the impact of DRD4 receptor gene polymorphism on intrinsic and extrinsic aspiration as well as approach motivation using the Aspiration Index scales and Behavioral Inhibition and Activation (BIS/BAS) scales as our psychometric instrument of evaluation. In a pilot study consisting of 9 healthy subjects, the 7R allele of DRD4 receptor gene was associated with ...

Genome Information Processing By The Ino80 Chromatin Remodeler Positions Nucleosomes, Elisa Oberbeckmann, Nils Krietenstein, Vanessa Niebauer, Yingfei Wang, Kevin Schall, Manuela Moldt, Tobias Straub, Remo Rohs, Karl-Peter Hopfner, Philipp Korber, Sebastian Eustermann

Open Access Publications by UMass Chan Authors

The fundamental molecular determinants by which ATP-dependent chromatin remodelers organize nucleosomes across eukaryotic genomes remain largely elusive. Here, chromatin reconstitutions on physiological, whole-genome templates reveal how remodelers read and translate genomic information into nucleosome positions. Using the yeast genome and the multi-subunit INO80 remodeler as a paradigm, we identify DNA shape/mechanics encoded signature motifs as sufficient for nucleosome positioning and distinct from known DNA sequence preferences of histones. INO80 processes such information through an allosteric interplay between its core- and Arp8-modules that probes mechanical properties of nucleosomal and linker DNA. At promoters, INO80 integrates this readout of DNA shape ...

Complete Coding Genome Sequence Of A Novel Porcine Reproductive And Respiratory Syndrome Virus 2 Restriction Fragment Length Polymorphism 1-4-4 Lineage 1c Variant Identified In Iowa, Usa, Giovani Trevisan, Ganwu Li, Cesar A.A. Moura, Katie Coleman, Pete Thomas, Jianqiang Zhang, Phillip Gauger, Michael Zeller, Daniel C.L. Linhares

Veterinary Diagnostic and Production Animal Medicine Publications

A porcine reproductive and respiratory syndrome virus 2 strain was identified in lung samples from nursery piglets associated with a 17.15% mortality rate on a swine farm in Iowa. Open reading frame 5 (ORF5) sequencing indicated that this strain is a restriction fragment length polymorphism (RFLP) 1-4-4 lineage 1C variant strain, and its complete coding genome sequence was determined.

The Complete Sequence Of A Human Genome [Preprint], Sergey Nurk, Evgeny I. Rogaev, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

University of Massachusetts Medical School Faculty Publications

In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the euchromatic fraction of the genome, the heterochromatin and many other complex regions were left unfinished or erroneous. Addressing this remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3.055 billion base pair (bp) sequence of a human genome, representing the largest improvement to the human reference genome since its initial release. The new T2T-CHM13 reference includes gapless ...

Transcriptional Analysis Of The Response Of C. Elegans To Ethanol Exposure, Mark G. Sterken, Marijke H. Van Wijk, Elizabeth C. Quamme, Joost A. G. Riksen, Lucinda Carnell, Laura D. Mathies, Andrew G. Davies, Jan E. Kammenga, Jill C. Bettinger

Biology Faculty Scholarship

Ethanol-induced transcriptional changes underlie important physiological responses to ethanol that are likely to contribute to the addictive properties of the drug. We examined the transcriptional responses of Caenorhabditis elegans across a timecourse of ethanol exposure, between 30 min and 8 h, to determine what genes and genetic pathways are regulated in response to ethanol in this model. We found that short exposures to ethanol (up to 2 h) induced expression of metabolic enzymes involved in metabolizing ethanol and retinol, while longer exposure (8 h) had much more profound effects on the transcriptome. Several genes that are known to be involved ...

Creating A Protein Chimera To Study Regulation Of Muscle Diversity, Shannon Scarboro

Symposium of Student Scholars

Creating a protein chimera to study regulation of muscle diversity.

Body muscles are made of many individual super-cells, called muscle fibers, that have distinct properties and determine every individual’s strength and endurance. Initially all muscle fibers have identical characteristics, but become differentiated into specific types in adults. The mechanism of such transition is not well understood, despite its obvious importance for shaping human physicality.

Remarkable conservation of the muscle tissue enables us to use fruit flies to study the mechanisms of muscle fiber diversity. We hypothesized that the transcription factor Mef2 acts as a molecular switch that activates structural ...

Successful Atac-Seq From Snap-Frozen Equine Tissues, Sichong Peng, Rebecca Bellone, Jessica Lynn Petersen, Theodore S. Kalbfleisch, Carrie J. Finno

Faculty Papers and Publications in Animal Science

An assay for transposase-accessible chromatin with high-throughput sequencing (ATAC-seq) has become an increasingly popular method to assess genome-wide chromatin accessibility in isolated nuclei from fresh tissues. However, many biobanks contain only snap-frozen tissue samples. While ATAC-seq has been applied to frozen brain tissues in human, its applicability in a wide variety of tissues in horse remains unclear. The Functional Annotation of Animal Genome (FAANG) project is an international collaboration aimed to provide high quality functional annotation of animal genomes. The equine FAANG initiative has generated a biobank of over 80 tissues from two reference female animals and experiments to begin ...

Cnd-1/Neurod Is Required For Rme Head Neuron Cell Fate Specification In The Nematode Caenorhabditis Elegans., Genevieve Doxakis

Symposium of Student Scholars

cnd-1/NeuroD is required for RME head neuron cell fate specification in the nematode Caenorhabditis elegans.

Genevieve Doxakis (1), Illyana Weitzel (2), Amber Baldwin (1), Davron Hanley (1), and Martin L. Hudson (1)

(1) Department of Molecular and Cellular Biology, Kennesaw State University

(2) STEM Magnet Program, Wheeler High School

Transcription factors are proteins that control gene transcription. NeuroD is a deeply conserved transcription factor that regulates neuronal differentiation and pancreatic development. Mutations in this gene correlate with several neurological disorders, creating an imperative for further study. The nematode Caenorhabditis elegans has a NeuroD ortholog, cnd-1, which means we can ...

Detecting Bacterial Species From Ancient Human Skeletal Samples, Ariel Owens, Daisy Mcgrath, Tsai-Tien Tseng

Symposium of Student Scholars

This paleopathological study aims to identify Mycobacterium tuberculosis complex (MTBC), Mycobacterium avium complex (MAC) and other Mycobacterium species in silico from skeletal samples that belonged to 28 Polish individuals in the Neolithic period under PRJNA422903 from the Sequence Read Archive (SRA). After next-generation sequencing (NGS), bioinformatics methods are heavily relied upon for identification of pathogens from complex samples. We implemented a bioinformatics pipeline, with custom-built databases, utilizing the following software tools: Trim Galore! and Kraken2. After adapter trimming, Kraken2 was used for taxonomic classifications. We have found that Mycobacterium is present in all 28 individuals. The average percentage of MAC ...

Identification And Comparison Of Arbuscular Mycorrhizal Fungi And Soil Microbiomes Between American Chestnuts And Surrounding Hardwoods, Sarah Andrews, Geoffrey Eger, Isabella Vahle

Symposium of Student Scholars

Background/Questions/Methods

The introduction of the Chinese chestnut blight in 1904 decimated native American chestnut (Castanea dentata (Marshall) Borkh.) populations. In this study we aim to: 1) document the location of individual chestnuts in our vicinity; 2) document healthy versus blight infected individuals; 3) characterize putative differences in the soil microbiome between infected and non-infected individuals, as well as between chestnuts and hardwood neighbors. With this information we hope to provide new insights into mechanisms that may enhance blight and fungal resistance in American chestnuts through the understanding of the interactions between the trees and their surrounding soil microbiome ...

Identification And Utilization Of Genetic Determinants Of Trait Measurement Errors In Image-Based, High-Throughput Phenotyping, Yan Zhou, Aaron Kusmec, Seyed Vahid Mirnezami, Lakshmi Attigala, Srikant Srinivasan, Talukder Zaki Jubery, James C. Schnable, Maria G. Salas Fernandez, Baskar Ganapathysubramanian, Patrick S. Schnable

Mechanical Engineering Publications

The accuracy of trait measurements greatly affects the quality of genetic analyses. During automated phenotyping, trait measurement errors, i.e., differences between automatically extracted trait values and ground truth, are often treated as random effects that can be controlled by increasing population sizes and/or replication number. By contrast, there is some evidence that trait measurement errors may be partially under genetic control. Consistent with this hypothesis, we observed substantial non-random, genetic contributions to trait measurement errors for five maize (Zea mays) tassel traits collected using an image-based phenotyping platform. The phenotyping accuracy varied according to whether a tassel exhibited ...

Pie-1 Sumoylation Promotes Germline Fates And Pirna-Dependent Silencing In C. Elegans, Heesun Kim, Yue-He Ding, Shan Lu, Mei-Qing Zuo, Wendy Tan, Darryl Conte Jr., Meng-Qiu Dong, Craig C. Mello

Open Access Publications by UMass Chan Authors

Germlines shape and balance heredity, integrating and regulating information from both parental and foreign sources. Insights into how germlines handle information have come from the study of factors that specify or maintain the germline fate. In early Caenorhabditis elegans embryos, the CCCH zinc finger protein PIE-1 localizes to the germline where it prevents somatic differentiation programs. Here, we show that PIE-1 also functions in the meiotic ovary where it becomes SUMOylated and engages the small ubiquitin-like modifier (SUMO)-conjugating machinery. Using whole-SUMO-proteome mass spectrometry, we identify HDAC SUMOylation as a target of PIE-1. Our analyses of genetic interactions between pie-1 ...

Novel Tuba4a Variant Associated With Familial Frontotemporal Dementia, Merel O. Mol, Tsz H. Wong, Shamiram Melhem, Sreya Basu, Riccardo Viscusi, Niels Galjart, Annemieke J. M. Rozemuller, Claudia Fallini, John E. Landers, Laura Donker Kaat, Harro Seelaar, Jeroen G. J. Van Rooij, John C. Van Swieten

Open Access Publications by UMass Chan Authors

Objective: Despite the strong genetic component of frontotemporal dementia (FTD), a substantial proportion of patients remain genetically unresolved. We performed an in-depth study of a family with an autosomal dominant form of FTD to investigate the underlying genetic cause.

Methods: Following clinical and pathologic characterization of the family, genetic studies included haplotype sharing analysis and exome sequencing. Subsequently, we performed immunohistochemistry, immunoblotting, and a microtubule repolymerization assay to investigate the potential impact of the candidate variant in tubulin alpha 4a (TUBA4A).

Results: The clinical presentation in this family is heterogeneous, including behavioral changes, parkinsonian features, and uncharacterized dementia. Neuropathologic examination ...

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

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 ...