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General Equations For Natural Selection Under Complete Dominance, Kasthuri Kannan, Adriana Heguy 2016 New York University

General Equations For Natural Selection Under Complete Dominance, Kasthuri Kannan, Adriana Heguy

Annual Symposium on Biomathematics and Ecology: Education and Research

No abstract provided.


Exploring The Space Of Rna Secondary Structures, Heather C. Smith 2016 Georgia Institute of Technology

Exploring The Space Of Rna Secondary Structures, Heather C. Smith

Annual Symposium on Biomathematics and Ecology: Education and Research

No abstract provided.


Comparative Population Genomics And Speciation Of Snakes Across The North American Deserts, Edward A. Myers 2016 The Graduate Center, City University of New York

Comparative Population Genomics And Speciation Of Snakes Across The North American Deserts, Edward A. Myers

All Graduate Works by Year: Dissertations, Theses, and Capstone Projects

Understanding the process of speciation is of central interest to evolutionary biologists. Speciation can be studied using a phylogeographic approach, by identifying regions that promote lineage divergence, addressing whether speciation has occurred with gene flow, and when extended to multiple taxa, addressing if the same patterns of speciation are shared across codistributed groups with different ecologies. Here I examine the comparative phylogeographic histories and population genomics of thirteen snake taxa that are widely distributed and co-occur across the arid southwest of North America. I first quantify the degree to which these species groups have a shared history of population divergence ...


The Regulation Of The Phosphatidate Phosphatase Gene Pah1 And Its Regulatory Role On Cell Homeostasis, Goldie Libby Sherr 2016 The Graduate Center, City University of New York

The Regulation Of The Phosphatidate Phosphatase Gene Pah1 And Its Regulatory Role On Cell Homeostasis, Goldie Libby Sherr

All Graduate Works by Year: 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 crucial role ...


Association Of Lipid-Related Genetic Variants With The Incidence Of Atrial Fibrillation: The Afgen Consortium, Faye L. Norby, David D. McManus 2016 University of Minnesota, Minneapolis

Association Of Lipid-Related Genetic Variants With The Incidence Of Atrial Fibrillation: The Afgen Consortium, Faye L. Norby, David D. Mcmanus

David D. McManus

BACKGROUND: Several studies have shown associations between blood lipid levels and the risk of atrial fibrillation (AF). To test the potential effect of blood lipids with AF risk, we assessed whether previously developed lipid gene scores, used as instrumental variables, are associated with the incidence of AF in 7 large cohorts.

METHODS: We analyzed 64,901 individuals of European ancestry without previous AF at baseline and with lipid gene scores. Lipid-specific gene scores, based on loci significantly associated with lipid levels, were calculated. Additionally, non-pleiotropic gene scores for high-density lipoprotein cholesterol (HDLc) and low-density lipoprotein cholesterol (LDLc) were calculated using ...


Rna2dnalign: Nucleotide Resolution Allele Asymmetries Through Quantitative Assessment Of Rna And Dna Paired Sequencing Data., Mercedeh Movassagh, Nawaf Alomran, Prakriti Mudvari, Merve Dede, Cem Dede, Kamran Kowsari, Paula Restrepo, Edmund Cauley, Sonali Bahl, Muzi Li, Wesley Waterhouse, Krasimira Tsaneva-Atanasova, Nathan Edwards, Anelia Horvath 2016 George Washington University

Rna2dnalign: Nucleotide Resolution Allele Asymmetries Through Quantitative Assessment Of Rna And Dna Paired Sequencing Data., Mercedeh Movassagh, Nawaf Alomran, Prakriti Mudvari, Merve Dede, Cem Dede, Kamran Kowsari, Paula Restrepo, Edmund Cauley, Sonali Bahl, Muzi Li, Wesley Waterhouse, Krasimira Tsaneva-Atanasova, Nathan Edwards, Anelia Horvath

Biochemistry and Molecular Medicine Faculty Publications

We introduce RNA2DNAlign, a computational framework for quantitative assessment of allele counts across paired RNA and DNA sequencing datasets. RNA2DNAlign is based on quantitation of the relative abundance of variant and reference read counts, followed by binomial tests for genotype and allelic status at SNV positions between compatible sequences. RNA2DNAlign detects positions with differential allele distribution, suggesting asymmetries due to regulatory/structural events. Based on the type of asymmetry, RNA2DNAlign outlines positions likely to be implicated in RNA editing, allele-specific expression or loss, somatic mutagenesis or loss-of-heterozygosity (the first three also in a tumor-specific setting). We applied RNA2DNAlign on 360 ...


Long-Term Correction Of Very Long-Chain Acyl-Coa Dehydrogenase Deficiency In Mice Using Aav9 Gene Therapy, Allison M. Keeler, Thomas J. Conlon, Glenn Walter, Huadong Zeng, Scott A. Shaffer, Fu Dungtao, Kirsten E. Erger, Travis L. Cossette, Qiushi Tang, Christian Mueller, Terence R. Flotte 2016 University of Massachusetts Medical School

Long-Term Correction Of Very Long-Chain Acyl-Coa Dehydrogenase Deficiency In Mice Using Aav9 Gene Therapy, Allison M. Keeler, Thomas J. Conlon, Glenn Walter, Huadong Zeng, Scott A. Shaffer, Fu Dungtao, Kirsten E. Erger, Travis L. Cossette, Qiushi Tang, Christian Mueller, Terence R. Flotte

Thomas L. Shaffer

Very long-chain acyl-coA dehydrogenase (VLCAD) is the rate-limiting step in mitochondrial fatty acid oxidation. VLCAD-deficient mice and patients clinical symptoms stem from not only an energy deficiency but also long-chain metabolite accumulations. VLCAD-deficient mice were treated systemically with 1 x 10(12) vector genomes of recombinant adeno-associated virus 9 (rAAV9)-VLCAD. Biochemical correction was observed in vector-treated mice beginning 2 weeks postinjection, as characterized by a significant drop in long-chain fatty acyl accumulates in whole blood after an overnight fast. Changes persisted through the termination point around 20 weeks postinjection. Magnetic resonance spectroscopy (MRS) and tandem mass spectrometry (MS/MS ...


Telomere Length Variation In Preschool Children: Associations With Chronic Family Stress, Maternal Depression, And Cortisol Reactivity, Aditi Thakur 2016 The University of Western Ontario

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 ...


Population Dynamics And Genetic Differentiation Of The Threatened Freshwater Mussel Species Fusconaia Askewi, Fusconaia Lananensis, And Pleurobema Riddellii, Plants-Paris D. Edith 2016 University of Texas at Tyler

Population Dynamics And Genetic Differentiation Of The Threatened Freshwater Mussel Species Fusconaia Askewi, Fusconaia Lananensis, And Pleurobema Riddellii, Plants-Paris D. Edith

Biology Theses

North America has the most diverse freshwater mussel fauna in the world with approximately 300 species; unfortunately, extinction rates for freshwater mussels rivals the rates of many other groups of organisms. Population-level natural life history data is essential in the management of species of conservation concern, yet basic information about freshwater mussel life-history and demographic traits are unknown for many species. To further complicate matters, taxonomic uncertainty exists among some members of the group. The work detailed herein had two goals: to gain further understanding of the taxonomic relationship between Fusconaia lananensis and F. askewi by sequencing genes that had ...


Ethnic Disparity In 21-Hydroxylase Gene Mutations Identified In Pakistani Congenital Adrenal Hyperplasia Patient, Aysha Habib Khan, Muniba Aban, Jamal Raza, Naeem ul Haq, Abdul Jabbar, Tariq Moatter 2016 Aga Khan University

Ethnic Disparity In 21-Hydroxylase Gene Mutations Identified In Pakistani Congenital Adrenal Hyperplasia Patient, Aysha Habib Khan, Muniba Aban, Jamal Raza, Naeem Ul Haq, Abdul Jabbar, Tariq Moatter

Aysha Habib

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. Methods: A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay. Results: Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females ...


Modeling And Analysis Of Germ Layer Formations Using Finite Dynamical Systems, Alexander Garza, Megan Eberle, Eric A. Eager 2016 University of Wisconsin-La Crosse

Modeling And Analysis Of Germ Layer Formations Using Finite Dynamical Systems, Alexander Garza, Megan Eberle, Eric A. Eager

Spora: A Journal of Biomathematics

The development of an embryo from a fertilised egg to a multicellular organism proceeds through numerous steps, with the formation of the three germ layers (endoderm, mesoderm, ectoderm) being one of the first. In this paper we study the mesendoderm (the tissue that collectively gives rise to both mesoderm and endoderm) gene regulatory network for two species, \textit{Xenopus laevis} and the axolotl (\textit{Ambystoma mexicanum}) using Boolean networks. We find that previously-established bistability found in these networks can be reproduced using this Boolean framework, provided that some assumptions used in previously-published differential equations models are relaxed. We conclude by ...


A Long-Term Neuroepigenomic Profile Of Prenatal Alcohol Exposure, Benjamin I. Laufer 2016 The University of Western Ontario

A Long-Term Neuroepigenomic Profile Of Prenatal Alcohol Exposure, Benjamin I. Laufer

Electronic Thesis and Dissertation Repository

Fetal Alcohol Spectrum Disorders (FASD) represent the largest preventable cause of cognitive deficits in the western world. The mechanism(s) of how prenatal alcohol exposure (PAE) results in FASD remain unknown. Towards this end, mouse models of PAE have successfully recreated endophenotypes that are characteristic of FASD. This doctoral thesis examines the long-term epigenomic alterations associated with PAE. I have examined both mice with PAE and human patients with FASD.

In the first set of experiments, mice with PAE and matched controls were raised to adulthood and then their whole brains were examined for alterations to gene expression, non-coding RNA ...


Dyslexia And Language Impairment Associated Genetic Markers Influence Cortical Thickness And White Matter In Typically Developing Children, John D. Eicher, Jean A. Frazier, David N. Kennedy, Jeffrey R. Gruen 2016 Yale University

Dyslexia And Language Impairment Associated Genetic Markers Influence Cortical Thickness And White Matter In Typically Developing Children, John D. Eicher, Jean A. Frazier, David N. Kennedy, Jeffrey R. Gruen

Jean A. Frazier

Dyslexia and language impairment (LI) are complex traits with substantial genetic components. We recently completed an association scan of the DYX2 locus, where we observed associations of markers in DCDC2, KIAA0319, ACOT13, and FAM65B with reading-, language-, and IQ-related traits. Additionally, the effects of reading-associated DYX3 markers were recently characterized using structural neuroimaging techniques. Here, we assessed the neuroimaging implications of associated DYX2 and DYX3 markers, using cortical volume, cortical thickness, and fractional anisotropy. To accomplish this, we examined eight DYX2 and three DYX3 markers in 332 subjects in the Pediatrics Imaging Neurocognition Genetics study. Imaging-genetic associations were examined by ...


Genomic Insights Into The Ixodes Scapularis Tick Vector Of Lyme Disease, Monika Gulia-Nuss,, Daniel R. Caffrey, Neal S. Silverman, Adam R. Wespiser, Catherine A. Hill 2016 Purdue University

Genomic Insights Into The Ixodes Scapularis Tick Vector Of Lyme Disease, Monika Gulia-Nuss,, Daniel R. Caffrey, Neal S. Silverman, Adam R. Wespiser, Catherine A. Hill

Neal Silverman

Ticks transmit more pathogens to humans and animals than any other arthropod. We describe the 2.1 Gbp nuclear genome of the tick, Ixodes scapularis (Say), which vectors pathogens that cause Lyme disease, human granulocytic anaplasmosis, babesiosis and other diseases. The large genome reflects accumulation of repetitive DNA, new lineages of retro-transposons, and gene architecture patterns resembling ancient metazoans rather than pancrustaceans. Annotation of scaffolds representing approximately 57% of the genome, reveals 20,486 protein-coding genes and expansions of gene families associated with tick-host interactions. We report insights from genome analyses into parasitic processes unique to ticks, including host 'questing ...


Therapeutic Raavrh10 Mediated Sod1 Silencing In Adult Sod1(G93a) Mice And Nonhuman Primates, Florie Borel, Gwladys Gernoux, Brynn Cardozo, Jake P. Metterville, Gabriela Toro Cabrera, Lina Song, Qin Su, Guang Ping Gao, Mai K. Elmallah, Robert H. Brown Jr., Christian Mueller 2016 University of Massachusetts Medical School

Therapeutic Raavrh10 Mediated Sod1 Silencing In Adult Sod1(G93a) Mice And Nonhuman Primates, Florie Borel, Gwladys Gernoux, Brynn Cardozo, Jake P. Metterville, Gabriela Toro Cabrera, Lina Song, Qin Su, Guang Ping Gao, Mai K. Elmallah, Robert H. Brown Jr., Christian Mueller

Christian Mueller

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease; survival in ALS is typically 3-5 years. No treatment extends patient survival by more than three months. Approximately 20% of familial ALS and 1-3% of sporadic ALS patients carry a mutation in the gene encoding superoxide dismutase 1 (SOD1). In a transgenic ALS mouse model expressing the mutant SOD1(G93A) protein, silencing the SOD1 gene prolongs survival. One study reports a therapeutic effect of silencing the SOD1 gene in systemically treated adult ALS mice; this was achieved with a short hairpin RNA, a silencing molecule that has raised multiple safety concerns ...


Relationship Between Morphogenesis And Secretion In The Filamentous Fungus Aspergillus Nidulans, Lakshmi Preethi Yerra 2016 University of Nebraska-Lincoln

Relationship Between Morphogenesis And Secretion In The Filamentous Fungus Aspergillus Nidulans, Lakshmi Preethi Yerra

Dissertations and Theses in Biological Sciences

Filamentous fungi have a long history in biotechnology for the production of food ingredients, pharmaceuticals and enzymes. The advancements made in recent years have earned filamentous fungi such as Aspergillus species a dominant place among microbial cell factories. Although the model fungus A. nidulans has been extensively studied, the genetic and regulatory networks that underlie morphogenesis and development have yet to be fully characterized. The Rho GTPases (Cdc42 and RacA) are one of the most important regulators of the morphogenetic processes among diverse eukaryotic organisms. Although the functions of these GTPases are relatively well-characterized, little is known about their downstream ...


Development Of Genomic Resources For The Evaluation Of Red Snapper, An Emerging Species Candidate For Marine Aquaculture And Stock Enhancement, Adrienne Elise Norrell 2016 University of Southern Mississippi

Development Of Genomic Resources For The Evaluation Of Red Snapper, An Emerging Species Candidate For Marine Aquaculture And Stock Enhancement, Adrienne Elise Norrell

Master's Theses

The northern red snapper (Lutjanus campechanus) is a highly targeted reef fish candidate for marine aquaculture and stock enhancement in the southern United States. This work aimed to develop genomic resources for the genetic management of aquaculture programs and to investigate population structure using high-throughput sequencing technologies. Eighty-four new microsatellite markers were developed through screening of Illumina paired-end sequencing reads. Microsatellite loci and Single Nucleotide Polymorphisms (SNPs) generated through Restriction Site Associated DNA (RAD) sequencing were assayed in 5 outbred full-sib families to construct a high-density linkage map of the red snapper genome. The map consists of 7,964 markers ...


Data Development And Analysis Pathways For Marine Mammals And Turtles: Creating A User Interface, Sarina Fernandez, Warren Asfazadour, Eric Archer, Lisa Komoroske 2016 California Polytechnic State University, San Luis Obispo

Data Development And Analysis Pathways For Marine Mammals And Turtles: Creating A User Interface, Sarina Fernandez, Warren Asfazadour, Eric Archer, Lisa Komoroske

STAR (STEM Teacher and Researcher) Program Posters

A major obstacle in genetic research is developing streamlined methods for analyzing large amounts of data. The statistical computer programming language R provides users with the ability to develop packages containing specific functions in order to create more accessible data analysis pipelines. However, writing code in R can still be intimidating to those with little to no coding experience. Fortunately, the R package shiny provides a framework for developing web applications based on R functions. Using shiny, we developed a user-friendly web application containing functions of the R package strataG. The strataG package contains several functions for summarizing genetic data ...


Association Of Genotype At Drd2 With Growth And Reproductive Performance Traits In Bulls Grazing Toxic Endophyte-Infected Tall Fescue, Kaysie Jennings 2016 University of Tennessee, Knoxville

Association Of Genotype At Drd2 With Growth And Reproductive Performance Traits In Bulls Grazing Toxic Endophyte-Infected Tall Fescue, Kaysie Jennings

Masters Theses

Fescue toxicosis can negatively impact growth and fertility of beef cattle grazing tall fescue infected with an endophytic fungus. The fungus produces ergot alkaloids that contribute to the hardiness of the plant, but can be detrimental to the animal if consumed. A single nucleotide polymorphism (SNP) in the dopamine receptor D2 gene (DRD2) has been associated with serum prolactin concentrations and hair coat scores in cattle grazing toxic endophyte-infected (TE) tall fescue; cattle with the GG genotype had decreased serum prolactin concentrations and increased hair coat scores. Separately, heifers with the AA genotype calved sooner than AG or GG heifers ...


End Sequence Analysis Toolkit (Esat) Expands The Extractable From Single Cell Rna-Seq Experiments, Alan G. Derr, Chaoxing Yang, Rapolas Zilionis, Alexey Sergushichev, David Blodgett, Sambra D. Redick, Rita Bortell, Jeremy Luban, David Harlan, Sebastian Kadener, Dale L. Greiner, Allon Klein, Maxim Artyomov, Manuel Garber 2016 University of Massachusetts Medical School

End Sequence Analysis Toolkit (Esat) Expands The Extractable From Single Cell Rna-Seq Experiments, Alan G. Derr, Chaoxing Yang, Rapolas Zilionis, Alexey Sergushichev, David Blodgett, Sambra D. Redick, Rita Bortell, Jeremy Luban, David Harlan, Sebastian Kadener, Dale L. Greiner, Allon Klein, Maxim Artyomov, Manuel Garber

Open Access Articles

RNA-seq protocols that focus on transcript termini are well-suited for applications in which template quantity is limiting. Here we show that, when applied to end-sequencing data, analytical methods designed for global RNA-seq produce computational artifacts. To remedy this we created the End Sequence Analysis Toolkit (ESAT). As a test, we first compared end-sequencing and bulk RNA-seq using RNA from dendritic cells stimulated with lipopolysaccharide (LPS). As predicted by the telescripting model for transcriptional bursts, ESAT detected an LPS-stimulated shift to shorter 3'-isoforms that was not evident by conventional computational methods. Then, droplet-based microfluidics was used to generate 1,000 ...


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