Genetics and Genomics Commons^™

Jak/Stat Signaling Regulates Gametogenesis And Age-Related Reproductive Maintenance, Michelle Suzanne Giedt

Theses and Dissertations--Biology

Cell signaling is central to integration of internal and external cues that regulate development and homeostasis. Most development is thought of as pre-adult, but limited developmental processes occur in adults. Gametogenesis incorporates elements of both these facets, with a distinct developmental plan for gamete synthesis which is regulated by integration of homeostatic inputs such as nutrient status, and environmental cues. Signaling pathways integrate and transduce information from these cues to evoke a response. A decline in homeostasis and subsequent cues occurs over time, in the case of reproductive tissues leading to a progressive loss of fertility. The Janus Kinase and …

Role Of Sex Chromosomes In Sexual Dimorphism Of Angii-Induced Abdominal Aortic Aneurysms, Yasir Alsiraj

Theses and Dissertations--Pharmacology and Nutritional Sciences

Abdominal aortic aneurysms (AAAs), a permanent dilation in the abdominal region of the aorta, is a highly sexually dimorphic disease. AAAs prevalence is ranging from 4-10 fold higher in males than females. Defining the mechanistic basis for reduced (in females) or increased (in males) AAA formation and progression may uncover potential therapeutic targets. The majority of studies examining sexual dimorphism focus on the role of sex hormones. However, genes residing on sex chromosomes, in addition to sex hormones, may contribute to sexual dimorphism of AAAs. For example, the X chromosome contains about 5% of the whole genome, but the role …

45442 (Gmr18d08), Neha Gogia, Ankita Sarkar, Amit Singh

Dpp Enhancer Sequences Utilized in GMR Line

dpp enhancer - 45442

• Id - GMR 18D08
• Location - 2L:2446783,2449086
• Base pairs – 2303 bp

49283 (Gmr19c03), Neha Gogia, Ankita Sarkar, Amit Singh

Dpp Enhancer Sequences Utilized in GMR Line

dpp enhancer - 49283

• Id - GMR19C03
• Location - 2L:2440970,2444735
• Base pairs – 3765 bp

Wild-Type P53 Enhances Endothelial Barrier Function By Mediating Rac1 Signalling And Rhoa Inhibition, Nektarios Barabutis, Christiana Dimitropoulou, Betsy Gregory, John D. Catravas

Bioelectrics Publications

Inflammation is the major cause of endothelial barrier hyper-permeability, associated with acute lung injury and acute respiratory distress syndrome. This study reports that p53 "orchestrates" the defence of vascular endothelium against LPS, by mediating the opposing actions of Rac1 and RhoA in pulmonary tissues. Human lung microvascular endothelial cells treated with HSP90 inhibitors activated both Rac1- and P21-activated kinase, which is an essential element of vascular barrier function. 17AAG increased the phosphorylation of both LIMK and cofilin, in contrast to LPS which counteracted those effects. Mouse lung microvascular endothelial cells exposed to LPS exhibited decreased expression of phospho-cofilin. 17AAG treatment …

Continuity Of Transcriptomes Among Colorectal Cancer Subtypes Based On Meta-Analysis, Siyuan Ma, Shuji Ogino, Princy Parsana, Reiko Nishihara, Zhirong Qian, Jeanne Shen, Kosuke Mima, Yohei Masugi, Yin Cao, Jonathan A. Nowak, Kaori Shima, Yujin Hoshida, Edward L. Giovannucci, Manish K. Gala, Andrew T. Chan, Charles S. Fuchs, Giovanni Parmigiani, Curtis Huttenhower, Levi Waldron

Publications and Research

Background: Previous approaches to defining subtypes of colorectal carcinoma (CRC) and other cancers based on transcriptomes have assumed the existence of discrete subtypes. We analyze gene expression patterns of colorectal tumors from a large number of patients to test this assumption and propose an approach to identify potentially a continuum of subtypes that are present across independent studies and cohorts.

Results: We examine the assumption of discrete CRC subtypes by integrating 18 published gene expression datasets and >3700 patients, and contrary to previous reports, find no evidence to support the existence of discrete transcriptional subtypes. Using a meta-analysis approach to …

An Assessment Of Inheritance Patterns In Two Mutant Eye-Color Traits Of Drosophila Melanogaster, Jedidiah Heiser, Seth B. Yates

A with Honors Projects

This experiment was a two generation test cross (from F0 to F1 and F1 to F2) to check the patterns of inheritance and their chi-square significance. Wild-type males and females were paired with the opposite sex of the two mutant groups -- Sepia eyes and White eyes. The pairing thus resulted in 4 tube conditions. Generations were counted and identified by sex and phenotype -- Wild-type or Mutant. The next generation was seeded with approximately 6 - 8 individuals from each sex and released once the next generation reached their pupal phase. Fresh tubes were seeded between F1 and F2. …

Building Capacity For A Global Genome Editing Observatory: Conceptual Challenges, J. Benjamin Hurlbut, Sheila Jasanoff, Krishanu Saha, Aziza Ahmed, Anthony Appiah, Elizabeth Bartholet, Francoise Baylis, Gaymon Bennett, George Church, I. Glenn Cohen, George Daley, Kevin Finneran, William Hurlbut, Rudolf Jaenisch, Laurence Lwoff, John Paul Kimes, Peter Mills, Jacob Moses, Buhm Soon Park, Erik Parens, Rachel Salzman, Abha Saxena, Hilton Simmet, Tania Simoncelli, O. Carter Snead, Kaushik Sunder Rajan, Robert D. Truog, Patricia Williams, Christiane Woopen

Journal Articles

A new infrastructure is urgently needed at the global level to facilitate exchange on key issues concerning genome editing. We advocate the establishment of a global observatory to serve as a center for international, interdisciplinary, and cosmopolitan reflection.

Identification Of The Cftr C.1666a > G Mutation In Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis, Yan Lu, Yuwei Da, Yong B. Zhang, Xingang Li, Min Wang, Li Di, Mi Pang, Lin Lei

Research outputs 2014 to 2021

Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant and occurs in adulthood. Our previous study reported a new subtype of HIBM linked to the susceptibility locus at 7q22.1-31.1. The present study is aimed to identify the candidate gene responsible for the phenotype in HIBM pedigree. After multipoint linkage analysis, we performed targeted capture sequencing on 16 members and whole-exome sequencing (WES) on 5 members. Bioinformatics filtering was performed to prioritize the candidate pathogenic gene variants, which were further genotyped by …

Rates And Patterns Of Evolution In A Duplicated Genome In The Family Catostomidae, Megann Michelle Schmidt

Honors Program Theses

Whole genome duplication (WGD) is a process in which the entire genome of an organism is duplicated, making redundant genes which are subject to unique evolutionary forces. Various modes of selection create different genetic fates such as retention of ancestral function, development of new function, or loss of function. Because of these differing fates, WGD is hypothesized to be a major driving force behind diversification. In this project, DNA sequences from fish species in the family Catostomidae were examined to observe patterns of evolution following a known WGD. Gene trees were generated for 179 loci to determine the amount of …

Novel Computational Methods For Sequencing Data Analysis: Mapping, Query, And Classification, Xinan Liu

Theses and Dissertations--Computer Science

Over the past decade, the evolution of next-generation sequencing technology has considerably advanced the genomics research. As a consequence, fast and accurate computational methods are needed for analyzing the large data in different applications. The research presented in this dissertation focuses on three areas: RNA-seq read mapping, large-scale data query, and metagenomics sequence classification.

A critical step of RNA-seq data analysis is to map the RNA-seq reads onto a reference genome. This dissertation presents a novel splice alignment tool, MapSplice3. It achieves high read alignment and base mapping yields and is able to detect splice junctions, gene fusions, and circular …

Dna Extraction And Microsatellite Amplification Of Daphnia Pulicaria Resting Eggs: Analysis Of Allele Frequencies Through Time, Anna Ries

Departmental Honors Projects

A paleoecological approach allows for the study of genetic change in populations over longer periods of time than would be possible if one were sampling populations from year to year. Daphnia and other cladoceran zooplankton are amenable to this type of study because they produce diapausing embryos (ephippial eggs) when they sexually reproduce, and these resting eggs can remain viable for decades to centuries in lake sediments. This study uses paleoecological methods as well as a new methodology for ephippial DNA extraction and amplification to assay for genetic variation in ephippial eggs obtained from sediments of varying ages from Square …

The Effects Of Forest Degradation On Dna Methylation In Central African Songbirds, Andrew K. Wiegardt

Cal Poly Humboldt theses and projects

Environmentally-induced stress can initiate a molecular response through DNA methylation, which can alter gene expression, thereby serving as a mechanism allowing individuals to acclimate to a changing environment within their lifetime. In addition to DNA methylation, the production and release of corticosterone is a physiological mechanism by which birds can cope with acute environmental stressors. To assess how environmental stress impacted DNA methylation and corticosterone, I collected blood and feather samples from three understory avian species (Alethe castanea, Bleda notatus and Pseudalethe poliocephala), along a disturbance gradient in the lowland Guinean rainforest adjacent to the village of …

Increased Fxyd1 And Pgc-1Α Mrna After Blood Flow-Restricted Running Is Related To Fibre Type-Specific Ampk Signalling And Oxidative Stress In Human Muscle, Danny Christiansen, Robyn M. Murphy, Christos G. Stathis, David Bishop

Research outputs 2014 to 2021

Aim: This study explored the effects of blood flow restriction (BFR) on mRNA responses of PGC-1α (total, 1α1, and 1α4) and Na+,K+-ATPase isoforms (NKA; α1-3, β1-3, and FXYD1) to an interval running session and determined whether these effects were related to increased oxidative stress, hypoxia, and fibre type-specific AMPK and CaMKII signalling, in human skeletal muscle. Methods: In a randomized, crossover fashion, 8 healthy men (26 ± 5 year and 57.4 ± 6.3 mL kg−1 min−1) completed 3 exercise sessions: without (CON) or with blood flow restriction (BFR), or in systemic hypoxia (HYP, ~3250 m). A muscle sample was collected …

Adverse Pregnancy Outcomes And Imbalance In Angiogenic Growth Mediators And Oxidative Stress Biomarkers Is Associated With Advanced Maternal Age Births: A Prospective Cohort Study In Ghana, Enoch Odame Anto, William K. Owiredu, Samuel A. Sakyi, Cornelius A. Turpin, Richard K. Ephraim, Linda A. Fondjo, Christian Obirikorang, Eric Adua, Emmanuel Acheampong

Research outputs 2014 to 2021

Background Advanced maternal age (AMA) has been associated with negative pregnancy outcomes. Oxidative stress (OS) and defective placental dysfunction are contributing factors. This study determined the association between AMA and adverse pregnancy outcomes, OS biomarkers and angiogenic growth mediators (AGMs) in normal pregnancies. Methods This prospective cohort study conducted at the Obstetrics and Gynaecology (O&G) Department of the Komfo Anokye Teaching Hospital (KATH) finally included 175 normal pregnant women comprising, 58 AMA (35–45 years), 55 (30–34 years) and 62 optimal childbearing age (20–29 years). Venous blood samples were collected at 28–32 weeks for soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth …

Manipulating Graded Exercise Test Variables Affects The Validity Of The Lactate Threshold And Vo2peak, Nicholas A. Jamnick, Javier Botella, David B. Pyne, David Bishop

Research outputs 2014 to 2021

Background To determine the validity of the lactate threshold (LT) and maximal oxygen uptake (V_ O2max) determined during graded exercise test (GXT) of different durations and using different LT calculations. Trained male cyclists (n = 17) completed five GXTs of varying stage length (1, 3, 4, 7 and 10 min) to establish the LT, and a series of 30-min constant power bouts to establish the maximal lactate steady state (MLSS). V_ O2 was assessed during each GXT and a subsequent verification exhaustive bout (VEB), and 14 different LTs were calculated from four of the GXTs (3, 4, 7 and 10 …

Tissue Specificity Of Sex-Biased Gene Expression And The Development Of Sexual Dimorphism, Albert K. Chung

College of Graduate Studies: Theses & Dissertations

One prominent form of phenotypic diversity in nature is the dramatic difference between males and females within a single species. A central genetic obstacle which must be overcome is that two distinct phenotypes must be produced from a single, shared genome. One genetic mechanism that is of particular import that would allow sexes to overcome the limitation of a shared genome is sex-specific regulation of gene expression. Although sex-biased gene expression is generally predicted to increase over ontogeny as male and female phenotypes diverge, this pattern should be most pronounced in tissues that contribute to the most extreme aspects of …

Quantifying Genetic Responses Of Plants To Drought Stress With A Comparative Transcriptome Approach, Jessica K. Devitt

College of Graduate Studies: Theses & Dissertations

Mentzelia section Bartonia (Loasaceae) commonly occurs in some of the hottest and driest places in North America, but we poorly understand the mechanisms that allow them to tolerate such extreme environments. Morphological and physiological adaptations are well studied in model organisms. The underlying genetic responses to drought stress in non-model organisms like Mentzelia is unknown. To better understand and identify differences and similarities in genetic responses to drought stress between species existing in different habitats with differing water availability, three species from the genus Mentzelia were compared. Species of section Bartonia occur across an environmental gradient, from temperate to arid …

Improving The Phylogenetic Understanding Of The Genus Juniperus, Therese Balkenbush

All Master's Theses

Juniperus is a species-rich and geographically widespread genus of coniferous trees and shrubs. The genus is relatively recently diverged, and has experienced periods of rapid diversification. Recent phylogenetic investigations by others have compared DNA from selected regions of the chloroplast, but the resulting topologies conflict, and some relationships remain unresolved. Their relatively small data sets failed to capture sufficient variation to resolve events of rapid diversification in these closely related taxa. This study provides increased resolution and support by generating a plastome-scale phylogeny for 28 Juniperus species, revealing previously unresolved relationships at both deep and shallow nodes. One-third of the …

Building Capacity For A Global Genome Editing Observatory: Institutional Design, Krishanu Saha, J. Benjamin Hurlbut, Sheila Jasanoff, Aziza Ahmed, Anthony Appiah, Elizabeth Bartholet, Francoise Baylis, Gaymon Bennett, George Church, I. Glenn Cohen, George Daley, Kevin Finneran, William Hurlbut, Rudolf Jaenisch, Laurence Lwoff, John Paul Kimes, Peter Mills, Jacob Moses, Buhm Soon Park, Erik Parens, Rachel Salzman, Abha Saxena, Hilton Simmet, Tania Simoncelli, O. Carter Snead, Kaushik Sunder Rajan, Robert D. Truog, Patricia Williams, Christiane Woopen

Journal Articles

A new infrastructure is urgently needed at the global level to facilitate exchange on key issues concerning genome editing. We advocate the establishment of a global observatory to serve as a center for international, interdisciplinary, and cosmopolitan reflection.

Bio2450l Genetics Laboratory Manual, Christopher Blair

Open Educational Resources

No abstract provided.

2018 Annual Report, Christopher C. Witt

Annual Reports

In 2018, the Museum of Southwestern Biology (MSB) has continued to improve its profile and impacts, both on the University of New Mexico campus and in the international scientific community. Its collections serve as scientific infrastructure that enhances research, teaching, community service, and public outreach. The MSB is part of the UNM Department of Biology, and the missions of the MSB and the Department are synergistic. MSB houses extensive and rapidly growing collections representing biodiversity of world, primarily from the last halfcentury. MSB has outstanding collections from New Mexico and western North America, but it also has substantial holdings from …

Identification Of Novel Mites (Miniature Inverted-Repeat Transposable Elements) In Coxiella Burnetii: Implications For Protein And Small Rna Evolution, Shaun Wachter, Rahul Raghavan, Jenny Wachter, Michael F. Minnick

Biology Faculty Publications and Presentations

Background: Coxiella burnetii is a Gram-negative gammaproteobacterium and zoonotic agent of Q fever. C. burnetii’s genome contains an abundance of pseudogenes and numerous selfish genetic elements. MITEs (miniature invertedrepeat transposable elements) are non-autonomous transposons that occur in all domains of life and are thought to be insertion sequences (ISs) that have lost their transposase function. Like most transposable elements (TEs), MITEs are thought to play an active role in evolution by altering gene function and expression through insertion and deletion activities. However, information regarding bacterial MITEs is limited. Results: We describe two MITE families discovered during research on small non-coding …

Crispr Genetic Editing: Paths For Christian Acceptance And Analysis Of In Vivo And In Vitro Efficiency, Mandeep Sandhu

Scripps Senior Theses

With advancements in CRISPR-cas9 broadening the potential paths for clinical usage of genetic editing, conversations about genetic editing have grown to outside simply scientific communities and into mainstream conversations. This study focuses specifically on Christian discourse of genetic editing and locates four major tensions for many Christians when they think about genetic editing: beginning of life, Creator-human relationship, imago Dei, and stewardship. With these major concerns in mind, I identify epigenetics, somatic cell genetic editing, and in vivo genetic editing research as important research paths to pursue as they can potentially produce techniques that more Christian individuals would feel comfortable …

Life On The Edge: Risk Of Predation Drives Selection Of Habitat And Survival Of Neonates In Endangered Sierra Nevada Bighorn Sheep, Shannon Forshee

Graduate Student Theses, Dissertations, & Professional Papers

Long-term viability of endangered populations requires development of effective management strategies that target the population vital rate with the highest potential to influence population trajectories. When adult survival is high and stable, juvenile recruitment is the vital rate with the greatest potential to improve population trajectories. For my thesis I examined how lactating Sierra Nevada Bighorn sheep (Ovis Canadensis sierra) balance forage and predation risk during the neonatal period. I first identified resource selection strategies employed by lactating females to promote survival of neonates and then determined the primary factors affecting survival of neonates. I found lactating females selected for …

Role Of Sirna Pathway In Epigenetic Modifications Of The Drosophila Melanogaster X Chromosome, Nikita Deshpande

Wayne State University Dissertations

Eukaryotic genomes are organized into large domains of coordinated regulation. The role of small RNAs in formation of these domains is largely unexplored. An extraordinary example of domain-wide regulation is X chromosome compensation in Drosophila melanogaster males. This process occurs by hypertranscription of genes on the single male X chromosome. Extensive research in this field has shown that the Male Specific Lethal (MSL) complex binds X-linked genes and modifies chromatin to increase expression. The components of this complex, and their actions on chromatin, are well studied. In contrast, the mechanism that results in exclusive recruitment to the X chromosome is …

Missing Heritability And Novel Germline Risk Loci In Hereditary Ovarian Cancer: Insights From Whole Exome Sequencing And Functional Analyses, Jaime Lyn Stafford

Wayne State University Dissertations

While 25% of ovarian cancer (OVCA) cases are due to inherited factors, most of the genetic risk remains unexplained. This study addressed this gap by identifying previously undescribed OVCA risk loci through the whole exome sequencing (WES) of 48 BRCA1/BRCA2 wild type women diagnosed with OVCA, selected for high risk of genetic inheritance. Five clearly pathogenic variants were identified in this sample, four of which are in two genes featured on current multi-gene panels; (RAD51D, ATM). In addition, a high impact variant in FANCM (R1931*) was identified. FANCM has been recently implicated in familial breast cancer risk but is not …

Conservation Genetics Of Green Salamanders (Aneides Aeneus), Katherine Dooley

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.

Environmental Dna Analysis Of An Obligate Subterranean Shrimp, Jennifer S. Nix

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.

Genetic And Environmental Influences Of Bullying Involvement: A Longitudinal Twin Study, Ellyn Dunbar

Theses and Dissertations

Introduction—Bullying involvement is associated with many long-term adverse outcomes. Bullied children are at risk for internalizing disorders including anxiety, depression and suicidal behavior in childhood and adulthood. Bullies are also at risk for psychiatric disorders, specifically externalizing disorders. Bully victims—children who are both bullied and bullies—have a particularly poor prognosis, with a higher risk for internalizing and externalizing disorders. The purpose of this study is to study the epidemiology, risk of psychiatric disorders, and genetic and environmental influences of being bullied, a bully, and a bully victim—in the sample and individually in males and females.

Methods—Twins (N=2,844, aged …