Genetics and Genomics Commons^™

Unique Perspectives And Struggles Of Parents Rearing Children With Phenylketonuria With Unaffected Siblings, Cassandra Nicole Hollinger

Theses and Dissertations

Phenylketonuria (PKU) is an autosomal metabolic condition that is screened for via newborn screening. Individuals who are identified as having PKU require a protein-restricted diet to protect against neurological damage. Many parents who learn their child has PKU may already have children who are not affected, or may have children later who are not affected. This creates a unique situation in which parents are rearing children that require a strict protein-restricted diet with children who do not. Parents who are currently rearing children with and without PKU were surveyed to learn what unique perspectives and struggles they face, especially regarding …

Aaron Gillette , Eugenics And The Nature Nurture Debate In The Twentieth Century, Garland E. Allen

Biology Faculty Research

Aaron Gillette, Eugenics and the Nature–Nurture Debate in the Twentieth Century, Palgrave Studies in the History of Science and Technology [2007], digital reprint (New York, NY: Palgrave Macmillan, 2010), pp. ix, 239, index, £18.99, paperback, ISBN: 9780230108455. This book treats an important subject – the history of the nature–nurture debate (focused on the US but with references to European players and movements) – and its implications for current theories of evolutionary psychology.

Investigation Of Bacterial Rna-Directed Dna Methylation Via Dcm And Hfq, Dandan Li

Wayne State University Theses

Bacterial small RNAs and the RNA chaperone Hfq play crucial roles in post-transcriptional gene regulation, often as parts of stress-response pathways, but little is known about their roles in regulation of gene transcription. A recent report showed that changes in methylation patterns caused by DNA cytosine methyltransferase (Dcm) were linked to gene regulation occurring during the transition to stationary phase. Here, we show that Dcm involves in the stress responses under nutrient starvation and cold stress. Dcm and Hfq together mediate gene expression under cold stress. Hfq promotes Dcm-catalyzed cytosine methylation at specific sites near the rpoS promoter, which is …

Genetic Diversity In Populations Of Epiphanes Chihuahuaensis (Rotifera: Monogononta) In The Northern Chihuahuan Desert, Diego E. Reyes

Open Access Theses & Dissertations

1. Cryptic speciation in zooplankton is a phenomenon that has been recently gaining much attention. This is due in part to advances in molecular techniques which help in the identification of morphologically indistinct species. Organisms that have been traditionally believed to have cosmopolitan distributions are being found to be composed of cryptic species complexes with high levels of genetic divergence among lineages.

2. Epiphanes chihuahuaensis is a member in the Epiphanes senta species complex. In a previous study by Schröder & Walsh (2007), genetic data, along with morphological and reproductive isolation data were employed to help delineate four species within …

The Causes And Consequences Of Individual Variation In Parental Care Behavior, Daniel P. Wetzel

Theses and Dissertations--Biology

Behavioral traits can be remarkably flexible depending on the conditions in which they are expressed, yet, in spite of this flexibility, persistent differences between individuals appear to limit the potential expression of behaviors. For example, despite evidence that parents provide variable amounts of parental care in response to changing environmental conditions, they also differ in the overall level of care they provide. I used a behavioral reaction norm approach to study individual variation in parental care behavior in free-living house sparrows (Passer domesticus). I investigated the nature of this variation by studying the relationship between different forms of …

Axolotl Paedomorphosis: A Comparison Of Juvenile, Metamorphic, And Paedomorphic Ambystoma Mexicanum Brain Gene Transcription, Carlena Johnson

Theses and Dissertations--Biology

Unlike many amphibians, the paedomorphic axolotl (Ambystoma mexicanum) rarely undergoes external morphological changes indicative of metamorphosis. However, internally, some axolotl tissues undergo cryptic metamorphic changes. A previous study examined interspecific patterns of larval brain gene expression and found that these species exhibited unique temporal expression patterns that were hypothesized to be morph specific. This thesis tested this hypothesis by examining differences in brain gene expression between juvenile (JUV), paedomorphic (PAED), and metamorphic (MET) axolotls. I identified 828 genes that were expressed differently between JUV, PAED, and MET. Expression estimates from JUV were compared to estimates from PAED and …

Cellular And Molecular Aspects Of The Interaction Betwen Maize And The Anthracnose Pathogen Colletotrichum Graminicola, Maria F. Torres

Theses and Dissertations--Plant Pathology

Maize anthracnose, caused by the fungus Colletotrichum graminicola, is an economically important species contributing to major yield losses. C. graminicola is a hemibiotroph; initially it invades its host while it is alive, and then it switches to destructive necrotrophic growth and the host is killed. Establishment of compatible interactions by biotrophic pathogens is usually associated with suppression of host defenses and cell death, while necrotrophic pathogens typically secrete phytotoxic compounds and induce cell death. To understand the relationship of hemibiotrophy in C. graminicola to biotrophy and necrotrophy, I compared a compatible and an incompatible interaction, utilizing a non-pathogenic …

Overexpression/Silencing Of Selected Soybean Genes Alters Resistance To Pathogens, Mohamed H. El-Habbak

Theses and Dissertations--Plant Pathology

Plant diseases remain a major obstruction to meeting the world’s increased demand for soybean oil and protein. Reducing the losses caused by diseases in order to improve crop production is a high priority for agricultural research. The need for novel strategies for plant disease control cannot be overstated. In the present study, selected defense-related genes were silenced and/or overexpressed in soybean using a virus-based vector and the resultant plants were tested for their responses to pathogens. The first part of the study focused on Rps1k (Resistance to Phytophthora sojae) gene. The two conserved domains encoding ‘P-Loop NTPase’ and ‘PLN03210’ …

A Comprehensive Research Framework For Geographic Parthenogenesis In Whiptail Lizards (Genus Aspidoscelis), Adam Leland

UNLV Theses, Dissertations, Professional Papers, and Capstones

One of the most compelling topics in biology has been the ubiquity of sexual reproduction in living organisms. Because the ecological and evolutionary advantages of sex are well founded, those organisms that reproduce asexually remain enigmatic. Parthenogenesis, the clonal reproduction of an all-female species without the need for males, is a relatively common form of asexual reproduction in vertebrates, and has been subject of numerous academic investigations. Many parthenogenic organisms also share aspects of their geographic distributions, such as inhabiting higher latitudes, higher altitudes, islands or island-like habitats, xeric environments, and marginal, disturbed or ecotonal habitats relative to their sexual …

The Search For Catalytic Subunit Of Dna Polymerase Α In Thermomyces Lanuginosus, Chelsea Elyse Meier

Honors Program Theses

In eukaryotes, the enzyme DNA polymerase a (DNAPa) begins the process of DNA replication. Ultimately, this means DNAPa is responsible for all cell proliferation and growth of an organism. The mechanism by which this enzyme operates is interesting due to its implications in medicine; however, that mechanism remains largely elusive. DNAPa, including its catalytic subunit, has been studied in several eukaryotes. Unfortunately, these organisms present issues with the ease of study and with ethics. This research delved into a novel model organism that was potentially devoid of all these issues: the fungus Thermomyces lanuginosus. Though T. lanuginosus was easy to …

A Population Genetic Study Of The Fish Rhinichthys Cataractae In Northeast Iowa Using Microsatellite Genotype Data, Haley Ann Rinehart

Honors Program Theses

Rhinichthys cataractae has a wide distribution across the country and can be found in the majority of temperate habitats across North America (Girard & Angers, 2011). Similar to other species that inhabit northeast Iowa streams, its present-day distribution has been heavily influenced by Pleistocene glaciations (Girard & Angers, 2006). Corresponding to the distinct landscape and glacial history of northeast Iowa, the longnose dace is distributed almost exclusively in the northeast comer of Iowa (Figure 3). Investigation of the genetic diversity of this species will help clarify what steps need to be taken to ensure their survival and success, and may …

Genetic Diversity Of North American Captive-Born Gorillas (Gorilla Gorilla Gorilla), Noah D. Simmons, Ronald S. Wagner, Joseph G. Lorenz

All Faculty Scholarship for the College of the Sciences

Western lowland gorillas (Gorilla gorilla gorilla) are designated as critically endangered and wild populations are dramatically declining as a result of habitat destruction, fragmentation, diseases (e.g., Ebola) and the illegal bushmeat trade. As wild populations continue to decline, the genetic management of the North American captive western lowland gorilla population will be an important component of the long‐term conservation of the species. We genotyped 26 individuals from the North American captive gorilla collection at 11 autosomal microsatellite loci in order to compare levels of genetic diversity to wild populations, investigate genetic signatures of a population bottleneck and identify …

Genetic Analysis Of Putative Familial Relationships In A Captive Chimpanzee (Pan Troglodytes) Population, Renato Robledo, Joseph G. Lorenz, Jeanne Beck, James Else, Patrick Bender

Anthropology and Museum Studies Faculty Scholarship

Twelve autosomal dinucleotide repeat loci were analyzed in chimpanzees genomes by DNA amplification using primers designed for analysis of human loci. The markers span the entire length of human chromosomes 21 and 22. Nine markers were polymorphic in chimpanzee as well, with a somewhat comparable level of polymorphism and allele size range. Even in the presence of very limited information and in spite of missing samples, it was possible to reconstruct a complex pedigree and to provide molecular data that corroborate family relationships that were deduced from cage history and behavioral data. The conclusions were further supported by mitochondrial DNA …

A Novel Computational Framework For Transcriptome Analysis With Rna-Seq Data, Yin Hu

Theses and Dissertations--Computer Science

The advance of high-throughput sequencing technologies and their application on mRNA transcriptome sequencing (RNA-seq) have enabled comprehensive and unbiased profiling of the landscape of transcription in a cell. In order to address the current limitation of analyzing accuracy and scalability in transcriptome analysis, a novel computational framework has been developed on large-scale RNA-seq datasets with no dependence on transcript annotations. Directly from raw reads, a probabilistic approach is first applied to infer the best transcript fragment alignments from paired-end reads. Empowered by the identification of alternative splicing modules, this framework then performs precise and efficient differential analysis at automatically detected …

Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles

Research outputs 2013

Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland …

The Tick Genus Amblyomma In Africa: Phylogeny And Mutilocus Dna Barcoding, Omobolanle Kushimo

College of Graduate Studies: Theses & Dissertations

The tick genus Amblyomma includes approximately 130 species, 28 of which are found on the African continent and/ or in Madagascar. In order to understand the evolutionary phylogeography of the genus, it is necessary to gain a better understanding of the relationships between African taxa. Therefore, the main goals of this work were to, (1) reconstruct the phylogenetic relationships of the African Amblyomma available to us and (2) test markers for their usefulness as barcoding tools to link unknown immature specimens to their corresponding adults. The mitochondrial gene markers used in this study (12SrDNA and COI) did not resolve the …

Host Genomic Influences On Hiv/Aids, Stephen J. O'Brien, Sher L. Hendrickson

Biology Faculty Articles

The AIDS era has seen multiple advances in the power of genetics research; scores of host genetic protective factors have been nominated and several have translated to the bedside. We discuss how genomics may inform HIV/AIDS prevention, treatment and eradication.

Genetics Answers Questions And Raises More, Aldemaro Romero Jr.

Publications and Research

No abstract provided.

Electroporation-Mediated Gene Transfer Directly To The Swine Heart, Barbara Hargrave, Harre Downey, Cathryn Lundberg, Annelise Israel, Yeong-Jer Chen, Richard Heller

Bioelectrics Publications

In vivo gene transfer to the ischemic heart via electroporation holds promise as a potential therapeutic approach for the treatment of heart disease. In the current study, we investigated the use of in vivo electroporation for gene transfer using three different penetrating electrodes and one non-penetrating electrode. The hearts of adult male swine were exposed through a sternotomy. Eight electric pulses synchronized to the rising phase of the R wave of the electrocardiogram were administered at varying pulse widths and field strengths following an injection of either a plasmid encoding luciferase or one encoding green fluorescent protein. Four sites on …

The Use Of Metagenomic Approaches To Analyze Changes In Microbial Communities, Girish Neelakanta, Hameeda Sultana

Biological Sciences Faculty Publications

Microbes are the most abundant biological entities found in the biosphere. Identification and measurement of microorganisms (including viruses, bacteria, archaea, fungi, and protists) in the biosphere cannot be readily achieved due to limitations in culturing methods. A non-culture based approach, called “metagenomics”, was developed that enabled researchers to comprehensively analyse microbial communities in different ecosystems. In this study, we highlight recent advances in the field of metagenomics for analyzing microbial communities in different ecosystems ranging from oceans to the human microbiome. Developments in several bioinformatics approaches are also discussed in context of microbial metagenomics that include taxonomic systems, sequence databases, …

Pronounced Genetic Structure In A Highly Mobile Coral Reef Fish, Caesio Cuning, In The Coral Triangle, Amanda S. Ackiss, Shinta Pardede, Eric D. Crandall, Ma Carmen A. Ablan-Lagman, Ambariyanto, November Romena, Paul H. Barber, Kent E. Carpenter

Biological Sciences Faculty Publications

The redbelly yellowtail fusilier Caesio cuning has a tropical Indo-West Pacific range that straddles the Coral Triangle, a region of dynamic geological history and the highest marine biodiversity on the planet. Previous genetic studies in the Coral Triangle indicate the presence of multiple limits to connectivity. However, these studies have focused almost exclusively on benthic, reef-dwelling species. Schooling, reef-associated fusiliers (Perciformes: Caesionidae) account for a sizable portion of the annual reef catch in the Coral Triangle, yet to date, there have been no indepth studies on the population structure of fusiliers or other mid-water, reef-associated planktivores across this region. We …

Family Matters: An Analysis Of Genetic Relatedness Of Tetraclita Rubescens (The Pink Volcano Barnacle) Over Several Spatial Scales At Monterey And Bodega Bay, California, Kelly N. Chang

Scripps Senior Theses

Inbreeding involves the mating of closely related individuals at a higher frequency than at random; this can decrease the average fitness of populations and individuals by reducing the presence of heterozygotes and augmenting the expression of deleterious genes. Since marine invertebrates exhibit widespread dispersal, their potential for inbreeding is often disregarded. The adult sessile state of barnacles creates the potential for inbreeding as a result of necessary copulation between neighboring individuals. Depending on the degree of mixing that occurs during dispersal, closely related individuals or siblings may settle in close proximity, generating the possibility of kin aggregation and consequent inbreeding. …

Do Bha And Bht Induce Morphological Changes And Dna Double-Strand Breaks In Schizosaccharomyces Pombe?, Amy V. Tran

Scripps Senior Theses

Butylated Hydroxyanisole, BHA, and Butylated Hydroxytoluene, BHT, are commonly used as preservatives for our food as well as additives in many products such as cosmetics, petroleum, and medicine. Although their use has been approved by the Food and Drug Administration (FDA), there have been controversies and debates on whether these phenol derivatives or antioxidants are safe to use. Their accumulative toxicology and side effects need to be thoroughly investigated as we continue to consume them on a daily basis. Data obtained by genomic analysis in Tang lab suggested the involvement of DNA damage checkpoint/repair pathways in the response network to …

The Role Of Polyadenylation In Seed Germination, Liuyin Ma

Theses and Dissertations--Plant and Soil Sciences

Seed germination has many impacts on the uses of seeds, and is an important subject for study. Seed germination is regulated at both transcriptional and post-transcriptional levels. Therefore, it is important to study how polyadenylation regulates gene expression during seed germination. To this end, a modified Illumina GAIIx sequencing protocol (described in Chapter Two) was developed that allows deep coverage of poly(A) site position and distribution.

Alternative polyadenylation (APA) regulates gene expression by choosing one potential poly(A) site on a precursor RNA consequentially shortening/lengthening the mRNA relative to other possible sites. To further explore this phenomenon, genes affected by APA …

Investigation Of X Chromosome Recognition: The Role Of Small Rna In Drosophila Dosage Compensation, Debashish Unnikrishnan Menon

Wayne State University Dissertations

In humans and flies, females have two X chromosomes but males have one X chromosome and one Y chromosome. This leads to a fatal imbalance in X-linked gene expression in one sex. In mammals and in the fruit fly Drosophila, modulation of X chromosome expression is critical for survival. This process is termed dosage compensation. Flies increase expression from the male X chromosome two-fold. This is achieved by the Male Specific Lethal (MSL) complex, which consists of two large, non-coding RNA on the X transcripts (roX1 and roX2) and five proteins. The roX RNAs have a critical …

Mitochondrial Dna Instability In Cells Lacking Aconitase Correlates With Iron Citrate Toxicity, Muhammad A. Farooq, Tammy M. Pracheil, Zhejun Dong, Fei Xiao, Zhengchang Liu

Biological Sciences Faculty Publications

Aconitase, the second enzyme of the tricarboxylic acid cycle encoded by ACO1 in the budding yeast Saccharomyces cerevisiae, catalyzes the conversion of citrate to isocitrate. aco1 Delta results in mitochondrial DNA (mtDNA) instability. It has been proposed that Aco1 binds to mtDNA and mediates its maintenance. Here we propose an alternative mechanism to account for mtDNA loss in aco1 Delta mutant cells. We found that aco1 Delta activated the RTG pathway, resulting in increased expression of genes encoding citrate synthase. By deleting RTG1, RTG3, or genes encoding citrate synthase, mtDNA instability was prevented in aco1 Delta mutant …

Identification And Quantification Of Gene Targets Associated With Post-Traumatic Stress Disorder, Matthew Monaco

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

No abstract provided.

Characterization Of G-Patch Motif Contribution To Prp43 Function In The Pre-Messenger Rna Splicing And Ribosomal Rna Biogenesis Pathways, Daipayan Banerjee

Theses and Dissertations--Biology

The DExD/H-box protein Prp43 is essential for two biological processes: nucleoplasmic pre-mRNA splicing and nucleolar rRNA maturation. The biological basis for the temporal and spatial regulation of Prp43 remains elusive. The Spp382/Ntr1, Sqs1/Pfa1 and Pxr1/Gno1 G-patch proteins bind to and activate the Prp43 DExD/H box-helicase in pre-mRNA splicing (Spp382) and rRNA processing (Sqs1, Pxr1). These Prp43-interacting proteins each contain the G-patch domain, a conserved sequence of ~48 amino acids that includes 6 highly conserved glycine (G) residues. Five annotated G-patch proteins in baker’s yeast (i.e., Spp382, Pxr1, Spp2, Sqs1 and Ylr271) and with the possible exception of the uncharacterized Ylr271 …

Malnutrition In Sickle Cell Anemia: Implications For Infection, Growth And Maturation, Hyacinth I. Hyacinth, Oluwatoyosi A. Adekeye, Christopher S. Yilgwan

Journal of Social, Behavioral, and Health Sciences

Sickle cell anemia (SCA) is a genetic disease that affects mostly individuals of African and/or Hispanic descent, with the majority of cases in sub-Saharan Africa. Individuals with this disease show slowed growth, delayed sexual maturity, and poor immunologic function. These complications could partly be explained by the state of undernutrition associated with the disease. Proposed mechanism of undernutrition include protein hypermetabolism, decreased dietary intake possibly from interleukin-6-related appetite suppression, increased cardiac energy demand/expenditure, and increased red cell turnover. All the above mechanisms manifest as increased resting energy expenditure. Nutritional intervention utilizing single or multiple nutrient supplementation has led to improved …

Towards Defining The Chloroviruses: A Genomic Journey Through A Genus Of Large Dna Viruses, Adrien Jeanniard, David D. Dunigan, James Gurnon, Irina V. Agarkova, Ming Kang, Jason Vitek, Garry Duncan, O William Mcclung, Megan Larsen, Jean-Michel Claverie, James L. Van Etten, Guillaume Blanc

Nebraska Center for Virology: Faculty Publications

Background: Giant viruses in the genus Chlorovirus (family Phycodnaviridae) infect eukaryotic green microalgae. The prototype member of the genus, Paramecium bursaria chlorella virus 1, was sequenced more than 15 years ago, and to date there are only 6 fully sequenced chloroviruses in public databases. Presented here are the draft genome sequences of 35 additional chloroviruses (287 – 348 Kb/319 – 381 predicted protein encoding genes) collected across the globe; they infect one of three different green algal species. These new data allowed us to analyze the genomic landscape of 41 chloroviruses, which revealed some remarkable features about these viruses. …