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2017

Genetics

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Unseen Science: Modern Discoveries Too Far Away Or Tiny For Human Eyes, Lucy Huang Dec 2017

Unseen Science: Modern Discoveries Too Far Away Or Tiny For Human Eyes, Lucy Huang

Capstones

As science has progressed, scientists have realized that evidence goes beyond the realms of physical sight. Whether it is too small or difficult to find, scientists have developed different ways to get around this problem. We see this in cancer genomics and in extrasolar planetary research. Scientists use what they know and what they measure to validate their work.

https://lucy-huang-9tge.squarespace.com/


Transcription Activator Like Effector Nucleases (Talens): A New, Important, And Versatile Gene Editing Technique With A Growing Literature, Philip Barnett Dec 2017

Transcription Activator Like Effector Nucleases (Talens): A New, Important, And Versatile Gene Editing Technique With A Growing Literature, Philip Barnett

Publications and Research

Transcription activator like effector nucleases (TALENs) is a new and powerful technique in genetic engineering that can delete deleterious genes or add beneficial genes to organisms. It is being widely studied to improve crops and livestock, and is also being investigated clinically. Comparing the details of how both TALENs and its competitor, CRISPR-Cas9, function, reveals the potential advantages of TALENs. The growing literature, besides covering the scientific and technical aspects of TALENs, also includes pertinent information on regulatory aspects and the public’s perception and acceptance of TALENs.


Identification Of Single Nucleotide Polymorphisms In Exon 2 Of Bone Morphogenetic Protein 15 Gene In Egyptian Buffaloes, Khairy El-Bayomi, Iman El Araby, Ayman Saleh, Hoda Osman, Mahmoud Eltarabany, Ashraf Awad, Amir Abd El-Fattah Dec 2017

Identification Of Single Nucleotide Polymorphisms In Exon 2 Of Bone Morphogenetic Protein 15 Gene In Egyptian Buffaloes, Khairy El-Bayomi, Iman El Araby, Ayman Saleh, Hoda Osman, Mahmoud Eltarabany, Ashraf Awad, Amir Abd El-Fattah

Mansoura Veterinary Medical Journal

Bone Morphogenetic Protein 15 (BMP 15) is a member of transforming growth factor-β (TGF- β) superfamily which plays an important role in ovarian follicular development and ovulation rate. In this study a partial sequence of this gene was screened for polymorphisms. PCR amplification of DNA isolated from blood of 100 Egyptian buffaloes hiefers (50 infertile and 50 normal). Revealed two loci, BMP15.1 (222 bp) and BMP15.2 (222 bp) which includes exon 2 of BMP 15 gene. Polymorphisms in these two loci were detected by using direct sequencing and single strand conformational polymorphism (SSCP) technique. A single pattern of SSCP was …


Sperm Genetic And Epigenetic Mechanisms Regulating Male Fertility, Naseer Ahmad Kutchy Dec 2017

Sperm Genetic And Epigenetic Mechanisms Regulating Male Fertility, Naseer Ahmad Kutchy

Theses and Dissertations

Male fertility, ability to fertilize and activate the egg and support early embryo development, is crucial for mammalian reproduction and development. Testis specific histone 2B (TH2B) of sperm, protamines (PRM1/2), and posttranslational modifications of histone 3 (H3K27me3 and H3k27ac) are involved in spermatogenesis and male fertility. However, molecular and cellular mechanisms by which TH2B regulates histone to protamine replacement is poorly defined. Immunocytochemistry, western blotting, flow cytometry, computer-assisted sperm analysis (CASA) and bioinformatic approaches were applied to analyze sperm from Holstein bulls with different in vivo fertility. Results from the immunocytochemistry experiments showed that while TH2B and H3K27me3 were localized …


Heredity, Genetics And Orthodontics: How Much Has This Research Really Helped?, James K. Hartsfield Jr., George Jeryn Jacob, Lorri Ann Morford Dec 2017

Heredity, Genetics And Orthodontics: How Much Has This Research Really Helped?, James K. Hartsfield Jr., George Jeryn Jacob, Lorri Ann Morford

Oral Health Science Faculty Publications

Uncovering the genetic factors that correlate with a clinical deviation of previously unknown etiology helps to diminish the unknown variation influencing the phenotype. Clinical studies, particularly those that consider the effects of an appliance or treatment regimen on growth, need to be a part of these types of genetic investigations in the future. While the day-to-day utilization of "testing" for genetic factors is not ready for practice yet, genetic testing for monogenic traits such as Primary Failure of Eruption (PFE) and Class III malocclusion is showing more promise as knowledge and technology advances. Although the heterogeneous complexity of such things …


Nitrogen Fixation Mutants Of The Actinobacterium Frankia Casuarinae Cci3, Ken-Ichi Kucho, Daiki Tamari, Shintaro Matsuyama, Takeshi Nabekura, Louis S. Tisa Dec 2017

Nitrogen Fixation Mutants Of The Actinobacterium Frankia Casuarinae Cci3, Ken-Ichi Kucho, Daiki Tamari, Shintaro Matsuyama, Takeshi Nabekura, Louis S. Tisa

Molecular, Cellular & Biomedical Sciences

Frankia is a representative genus of nitrogen-fixing (N2-fixing) actinobacteria; however, the molecular mechanisms underlying various phenomena such as the differentiation of a N2 fixation-specific structure (vesicle) and the regulation of N2 fixation (nif) genes, have yet to be elucidated in detail. In the present study, we screened hyphal fragments of Frankia casuarinae that were mutagenized by 1-methyl-3-nitro-1-nitrosoguanidine or gamma rays, and isolated 49 candidate N2 fixation mutants. Twelve of these mutants were selected for further study, and their abilities to grow in NH3-deficient (N-) liquid media and their rates of acetylene reduction activities were evaluated. Eleven mutant strains were confirmed …


Trak2, A Novel Regulator Of Abca1 Expression, Cholesterol Efflux And Hdl Biogenesis, Nicole J. Lake, Rachael L. Taylor, Hugh Trahair, K. N. Harikrishnan, Joanne E. Curran, Marcio Almeida, Hemant Kulkarni, Matthew P. Johnson, Thomas D. Dyer, Michael Mahaney, Harald H. H. Goring, John Blangero Dec 2017

Trak2, A Novel Regulator Of Abca1 Expression, Cholesterol Efflux And Hdl Biogenesis, Nicole J. Lake, Rachael L. Taylor, Hugh Trahair, K. N. Harikrishnan, Joanne E. Curran, Marcio Almeida, Hemant Kulkarni, Matthew P. Johnson, Thomas D. Dyer, Michael Mahaney, Harald H. H. Goring, John Blangero

School of Medicine Publications and Presentations

Aims: The recent failures of HDL-raising therapies have underscored our incomplete understanding of HDL biology. Therefore there is an urgent need to comprehensively investigate HDL metabolism to enable the development of effective HDL-centric therapies. To identify novel regulators of HDL metabolism, we performed a joint analysis of human genetic, transcriptomic, and plasma HDL-cholesterol (HDL-C) concentration data and identified a novel association between trafficking protein, kinesin binding 2 (TRAK2) and HDL-C concentration. Here we characterize the molecular basis of the novel association between TRAK2 and HDL-cholesterol concentration.

Methods and results: Analysis of lymphocyte transcriptomic data together with plasma HDL from the …


Genetic Diversity Of Kemp's Ridley (Lepidochelys Kempii) Sea Turtles On South Padre Island, Texas, Hilary R. Frandsen Dec 2017

Genetic Diversity Of Kemp's Ridley (Lepidochelys Kempii) Sea Turtles On South Padre Island, Texas, Hilary R. Frandsen

Theses and Dissertations

In 2010, researchers observed an abrupt decline in nesting numbers of the Kemp’s ridley following 35 years of positive growth. In wake of this halt, and subsequent lowered nesting averages, evaluation of the genetic diversity of remaining individuals is relevant to investigate the plausibility of a genetic bottleneck, and determine the reproductive stability of the Kemp’s ridley.

Here, I evaluate the genetic diversity within a sampling of the Kemp’s ridleys on South Padre Island using two methods: targeting the mitochondrial control region and targeting the complete mitochondrial genome. Opportunistic samples were donated from juvenile ridleys on the East coast, and …


The Autophagy-Related Beclin-1 Protein Requires The Coiled-Coil And Bara Domains To Form A Homodimer With Submicromolar Affinity, Matthew J. Ranaghan, Michael A. Durney, Michael F. Mesleh, Patrick R. Mccarren, Colin W. Garvie, Douglas S. Daniels, Kimberly L. Carey, Adam P. Skepner, Beth Levine, Jose R. Perez Nov 2017

The Autophagy-Related Beclin-1 Protein Requires The Coiled-Coil And Bara Domains To Form A Homodimer With Submicromolar Affinity, Matthew J. Ranaghan, Michael A. Durney, Michael F. Mesleh, Patrick R. Mccarren, Colin W. Garvie, Douglas S. Daniels, Kimberly L. Carey, Adam P. Skepner, Beth Levine, Jose R. Perez

Chemistry Faculty Publications

Beclin-1 (BECN1) is an essential component of macroautophagy. This process is a highly conserved survival mechanism that recycles damaged cellular components or pathogens by encasing them in a bilayer vesicle that fuses with a lysosome to allow degradation of the vesicular contents. Mutations or altered expression profiles of BECN1 have been linked to various cancers and neurodegenerative diseases. Viruses, including HIV and herpes simplex virus 1 (HSV-1), are also known to specifically target BECN1 as a means of evading host defense mechanisms. Autophagy is regulated by the interaction between BECN1 and Bcl-2, a pro-survival protein in the apoptotic pathway that …


Glutamylation Regulates Transport, Specializes Function, And Sculpts The Structure Of Cilia, Robert O'Hagan, Malan Silva, Ken Cq Nguyen, Winnie Zhang, Sebastian Bellotti, Yasmin Ramadan, David Hall, Maureen M. Barr Nov 2017

Glutamylation Regulates Transport, Specializes Function, And Sculpts The Structure Of Cilia, Robert O'Hagan, Malan Silva, Ken Cq Nguyen, Winnie Zhang, Sebastian Bellotti, Yasmin Ramadan, David Hall, Maureen M. Barr

Department of Biology Faculty Scholarship and Creative Works

Ciliary microtubules (MTs) are extensively decorated with post-translational modifications (PTMs), such as glutamylation of tubulin tails. PTMs and tubulin isotype diversity act as a “Tubulin Code” that regulates cytoskeletal stability and the activity of MT-associated proteins such as kinesins. We previously showed that, in C. elegans cilia, the deglutamylase CCPP-1 affects ciliary ultrastructure, localization of the TRP channel PKD-2 and the kinesin-3 KLP-6, and velocity of kinesin-2 OSM-3/KIF17, while a cell-specific α-tubulin isotype regulates ciliary ultrastructure, intraflagellar transport, and ciliary functions of extracellular vesicle (EV)-releasing neurons. Here, we examine the role of PTMs and the Tubulin Code in the cililary …


Lamarck Revisited: The Implications Of Epigenetics For Environmental Law, Michael P. Vandenbergh, David J. Vandenbergh, John G. Vandenbergh Nov 2017

Lamarck Revisited: The Implications Of Epigenetics For Environmental Law, Michael P. Vandenbergh, David J. Vandenbergh, John G. Vandenbergh

Michigan Journal of Environmental & Administrative Law

For generations, a bedrock concept of biology was that genetic mutations are necessary to pass traits from one generation to the next, but new developments in genetics are challenging this fundamental assumption. A growing body of scientific evidence demonstrates that chemical alteration of the way a gene functions, whether through exposure to chemicals, foods or even traumatic experiences, may not only affect the exposed individual, but also the individual’s offspring for two generations or more. This interaction between genes and the environment, known as epigenetics, has revolutionized the understanding of how genes are expressed within an individual and how they …


Uncovering Tasselsheath3. A Genomic And Phenotypic Analysis Of A Maize Floral Mutant., Thompson Zhang Oct 2017

Uncovering Tasselsheath3. A Genomic And Phenotypic Analysis Of A Maize Floral Mutant., Thompson Zhang

Masters Theses

In the modern era, maize has become the most successful crop grown in the United States. According to the USDA over 90 million acres of land are planted to corn and 96.2% of the U.S feed grain production is made up of the cereal. Part of the success of maize is due to its floral architecture, and its pollination technique in which the flower opens, exposing stamens containing pollen into the air. A unique organ called the lodicule functions as a release mechanism, forcing the flower to open. Lodicules from grasses and eudicot petals are homologous, yet there is little …


Difatty Acyl-Conjugated Linear And Cyclic Peptides For Sirna Delivery, Hung Do, Meenakshi Sharma, Naglaa Salem El-Sayed, Parvin Mahdipoor, Emira Bousoik, Keykavous Parang, Hamidreza Montazeri Aliabadi Oct 2017

Difatty Acyl-Conjugated Linear And Cyclic Peptides For Sirna Delivery, Hung Do, Meenakshi Sharma, Naglaa Salem El-Sayed, Parvin Mahdipoor, Emira Bousoik, Keykavous Parang, Hamidreza Montazeri Aliabadi

Pharmacy Faculty Articles and Research

A number of amphiphilic difatty acyl linear and cyclic R5K2 peptide conjugates were synthesized by solid-phase peptide methods to enhance the interaction with the hydrophobic cellular phospholipid bilayer and to improve siRNA delivery and silencing. Binding to siRNA molecules was significantly less for the cyclic peptide conjugates. A gradual decrease was observed in the particle size of the complexes with increasing peptide/siRNA ratio for most of the synthesized peptides, suggesting the complex formation. Most of the complexes showed a particle size of less than 200 nm, which is considered an appropriate size for in vitro siRNA delivery. A number of …


Dorsal And Ventral Color Patterns In A South Georgia Population Of Agkistrodon Piscivorus Contanti, The Florida Cottonmouth, David L. Bechler, Joseph A. Kirkley Mr., John F. Elder Oct 2017

Dorsal And Ventral Color Patterns In A South Georgia Population Of Agkistrodon Piscivorus Contanti, The Florida Cottonmouth, David L. Bechler, Joseph A. Kirkley Mr., John F. Elder

Georgia Journal of Science

We examined dorsal pigments and ventral patterns in the Florida Cottonmouth, Agkistrodon piscivorus conanti, in the Alapahoochee watershed, Lowndes County, Georgia. Cottonmouths darken as they age; but the process has not been quantified in the literature. Thus, we examined both graphically and statistically changes in dorsal color pattern that occurs when snout vent length (SVL) increases as well as discrete patterns involving splotching and block-like patterns, and cream to white coloration on the ventral surface, which indicate underlying genetic factors. Snakes with SVLs between approximately 26.8 and 120.3 cm possessed an array of dorsal colors involving white, tan, dark …


Non-Compaction Cardiomyopathy – Brief Review, Oana Mirea, Mihaela Berceanu, Anca Constantin, Mirela Mănescu, Georgică Costinel Târtea, Ionuț Donoiu, Constantin Militaru, Octavian Istrătoaie Oct 2017

Non-Compaction Cardiomyopathy – Brief Review, Oana Mirea, Mihaela Berceanu, Anca Constantin, Mirela Mănescu, Georgică Costinel Târtea, Ionuț Donoiu, Constantin Militaru, Octavian Istrătoaie

Journal of Mind and Medical Sciences

Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity. The diagnosis is often challenging because excessive trabeculations may also be a normal finding in performance athletes and black people. Echocardiography is the gold standard for diagnosis of this condition, but other useful diagnostic techniques may include cardiac magnetic resonance imaging, computed tomography, and contrast ventriculography. Moreover, newer echocardiographic methods such as three-dimensional imaging and speckle tracking analysis promise to improve the diagnosis of left ventricular non-compaction cardiomyopathy. The purpose …


Assessment Of A Metaviromic Dataset Generated From Nearshore Lake Michigan, Siobhan C. Watkins, Neil Kuehnle, C Anthony Ruggeri, Kema Malki, Katherine Bruder, Jinan Elayyan, Kristina Damisch, Naushin Vahora, Paul O'Malley, Brianne Ruggles-Sage, Zachary Romer, Catherine Putonti Sep 2017

Assessment Of A Metaviromic Dataset Generated From Nearshore Lake Michigan, Siobhan C. Watkins, Neil Kuehnle, C Anthony Ruggeri, Kema Malki, Katherine Bruder, Jinan Elayyan, Kristina Damisch, Naushin Vahora, Paul O'Malley, Brianne Ruggles-Sage, Zachary Romer, Catherine Putonti

Catherine Putonti

Bacteriophages are powerful ecosystem engineers. They drive bacterial mortality rates and genetic diversity, and affect microbially mediated biogeochemical processes on a global scale. This has been demonstrated in marine environments; however, phage communities have been less studied in freshwaters, despite representing a potentially more diverse environment. Lake Michigan is one of the largest bodies of freshwater on the planet, yet to date the diversity of its phages has yet to be examined. Here, we present a composite survey of viral ecology in the nearshore waters of Lake Michigan. Sequence analysis was performed using a web server previously used to analyse …


Pleiotropy Of Genetic Variants On Obesity And Smoking Phenotypes: Results From The Oncoarray Project Of The International Lung Cancer Consortium, Tao Wang, Jee-Young Moon, Yiqun Wu, Christopher I. Amos, Rayjean J. Hung, Adonina Tardon, Angeline Andrew, Chu Chen, David C. Christiani, Demetrios Albanes, Erik H. F. M. Van Der Heijden, Eric Duell, Gadi Rennert, Gary Goodman, Geoffrey Liu, James D. Mckay, Jian-Min Yuan, John K. Field, Jonas Manjer, Kjell Grankvist, Lambertus A. Kiemeney, Loic Le Marchand, M. Dawn Teare, Matthew B. Schabath, Mattias Johansson, Melinda C. Aldrich, Michael Davies, Mikael Johansson, Ming-Sound Tsao, Neil Caporaso, Susanne Arnold Sep 2017

Pleiotropy Of Genetic Variants On Obesity And Smoking Phenotypes: Results From The Oncoarray Project Of The International Lung Cancer Consortium, Tao Wang, Jee-Young Moon, Yiqun Wu, Christopher I. Amos, Rayjean J. Hung, Adonina Tardon, Angeline Andrew, Chu Chen, David C. Christiani, Demetrios Albanes, Erik H. F. M. Van Der Heijden, Eric Duell, Gadi Rennert, Gary Goodman, Geoffrey Liu, James D. Mckay, Jian-Min Yuan, John K. Field, Jonas Manjer, Kjell Grankvist, Lambertus A. Kiemeney, Loic Le Marchand, M. Dawn Teare, Matthew B. Schabath, Mattias Johansson, Melinda C. Aldrich, Michael Davies, Mikael Johansson, Ming-Sound Tsao, Neil Caporaso, Susanne Arnold

Internal Medicine Faculty Publications

Obesity and cigarette smoking are correlated through complex relationships. Common genetic causes may contribute to these correlations. In this study, we selected 241 loci potentially associated with body mass index (BMI) based on the Genetic Investigation of ANthropometric Traits (GIANT) consortium data and calculated a BMI genetic risk score (BMI-GRS) for 17,037 individuals of European descent from the Oncoarray Project of the International Lung Cancer Consortium (ILCCO). Smokers had a significantly higher BMI-GRS than never-smokers (p = 0.016 and 0.010 before and after adjustment for BMI, respectively). The BMI-GRS was also positively correlated with pack-years of smoking (p < 0.001) in smokers. Based on causal network inference analyses, seven and five of 241 SNPs were classified to pleiotropic models for BMI/smoking status and BMI/pack-years, respectively. Among them, three and four SNPs associated with smoking status and pack-years (p < 0.05), respectively, were followed up in the ever-smoking data of the Tobacco, Alcohol and Genetics (TAG) consortium. Among these seven candidate SNPs, one SNP (rs11030104, BDNF) …


Reevaluating The Occurrence And Phylogeny Of The Pigtoe Unionid Mussels Fusconaia Askewi, Fusconaia Lananensis, Fusconaia Flava, And Pleurobema Riddelli In Texas, Charles J. Pratt Aug 2017

Reevaluating The Occurrence And Phylogeny Of The Pigtoe Unionid Mussels Fusconaia Askewi, Fusconaia Lananensis, Fusconaia Flava, And Pleurobema Riddelli In Texas, Charles J. Pratt

Biology Theses

The recent development of DNA-based species classification methods has led to the revision of many morphology-based species designations as genetic data has provided new information for species delineation. Analysis of standardized DNA ‘barcoding’ gene regions has proven particularly effective in resolving the taxonomic status of taxa that display phenotypic and habitat overlap.

Freshwater Unionid and Margaritiferid mussels comprise one of the most diverse aquatic taxa in North America, but are also among the most threatened, with over 70% of the approximately 300 native species considered at-risk or in decline. Although mussels face extensive threats from anthropogenic activity, conservation efforts have …


Does Baylisascaris Procyonis Phylogeny Correlate With That Of The Raccoon (Procyon Lotor), Matthew E. Ingle, Stephen G. Dunbar, Jaynee L. Bartsch, Kyle J. Culbertson, Taylor A. Fulton, Katherine R. Guffey, Aubrey J. Juris, Ashlie N. Nolan, Daniel P. Nordquist, Carrie E. Rowlands, Joshua A. Sitler Aug 2017

Does Baylisascaris Procyonis Phylogeny Correlate With That Of The Raccoon (Procyon Lotor), Matthew E. Ingle, Stephen G. Dunbar, Jaynee L. Bartsch, Kyle J. Culbertson, Taylor A. Fulton, Katherine R. Guffey, Aubrey J. Juris, Ashlie N. Nolan, Daniel P. Nordquist, Carrie E. Rowlands, Joshua A. Sitler

Stephen Dunbar, PhD

Baylisacaris procyonis, commonly known as the raccoon roundworm, is a parasite that inhabits the small intestine of the North American raccoon (Procyon lotor). Although humans do not typically become the definitive host, humans can become infected through handling soil containing eggs. B. procyonis can induce serious health complications in cases of human infection, including degenerative retinal and behavioral changes, coma, and even death. High prevalence of B. procyonis in a raccoon population increases the probability of transference to human hosts. In our study, we analyzed the genetic structure of B. procyonis harvested from raccoons of southwestern Ohio, and compared this …


Does Baylisascaris Procyonis Impact Raccoon (Procyon Lotor) Genetics?, Matthew E. Ingle, Stephen G. Dunbar, Jaynee L. Bartsch, Kyle J. Culbertson, Taylor A. Fulton, Katherine R. Guffey, Aubrey J. Juris, Ashlie N. Nolan, Daniel P. Nordquist, Carrie E. Rowlands, Joshua A. Sitler Aug 2017

Does Baylisascaris Procyonis Impact Raccoon (Procyon Lotor) Genetics?, Matthew E. Ingle, Stephen G. Dunbar, Jaynee L. Bartsch, Kyle J. Culbertson, Taylor A. Fulton, Katherine R. Guffey, Aubrey J. Juris, Ashlie N. Nolan, Daniel P. Nordquist, Carrie E. Rowlands, Joshua A. Sitler

Stephen Dunbar, PhD

Raccoons (Procyon lotor) are the final host for raccoon roundworms (Baylisascaris procyonis). Raccoon roundworm is the leading cause of a dangerous neurological disease, known as larva migrans encephalopathy. Phylogenetic trees illustrate co-evolutionary events between species living in a symbiotic relationship with each other. Throughout the coevolution of host and parasite, many aspects of a population affect the way the members interact with one another and with symbiotic species. In order to evaluate the relationship between host and parasite in regards to diet, we isolated DNA from intestinal wall tissue, amplified a portion of exon 2 from MHC II, and sent …


Establishing A Lung Model For Evaluation Of Engineered Lung Microbiome Therapies, Kathryn F. Atherton, Stephen Miloro, Jenna Rickus Aug 2017

Establishing A Lung Model For Evaluation Of Engineered Lung Microbiome Therapies, Kathryn F. Atherton, Stephen Miloro, Jenna Rickus

The Summer Undergraduate Research Fellowship (SURF) Symposium

Benzene, a toxin and carcinogen found in air polluted by cigarette smoke, car exhaust, and industrial processes, is associated with the development of leukemia and lymphoma. Other than avoiding exposure, there is no current method to deter the effects of benzene. One potential strategy to prevent these effects is to engineer the bacteria of the human lung microbiome to degrade benzene. To evaluate this novel approach, we must verify that the bacteria remain viable within the lung microenvironment. To do so, lungs were harvested from rats and swabbed to determine the contents of the original lung microbiome. Then green fluorescent …


Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease, David W. Fardo, Laura E. Gibbons, Shubhabrata Mukherjee, M. Maria Glymour, Wayne Mccormick, Susan M. Mccurry, James D. Bowen, Eric B. Larson, Paul K. Crane Aug 2017

Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease, David W. Fardo, Laura E. Gibbons, Shubhabrata Mukherjee, M. Maria Glymour, Wayne Mccormick, Susan M. Mccurry, James D. Bowen, Eric B. Larson, Paul K. Crane

Biostatistics Faculty Publications

INTRODUCTION—Findings for genetic correlates of late-onset Alzheimer's disease (LOAD) in studies that rely solely on clinic visits may differ from those with capacity to follow participants unable to attend clinic visits.

METHODS—We evaluated previously identified LOAD-risk single nucleotide variants in the prospective Adult Changes in Thought study, comparing hazard ratios (HRs) estimated using the full data set of both in-home and clinic visits (n = 1697) to HRs estimated using only data that were obtained from clinic visits (n = 1308). Models were adjusted for age, sex, principal components to account for ancestry, and additional health indicators.

RESULTS …


Clinical And Experimental Studies Of A Novel P525r Fus Mutation In Amyotrophic Lateral Sclerosis, Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St. Clair, Edward J. Kasarskis, Haining Zhu Aug 2017

Clinical And Experimental Studies Of A Novel P525r Fus Mutation In Amyotrophic Lateral Sclerosis, Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St. Clair, Edward J. Kasarskis, Haining Zhu

Molecular and Cellular Biochemistry Faculty Publications

Objective: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models.

Methods: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions. Clinical features of the index patient were compared with 19 other patients with ALS carrying the P525L mutation in the same …


Genome Wide Association And Next Generation Sequencing Approaches To Map Determinants Of Ascites In Broiler Chickens, Shatovisha Dey Aug 2017

Genome Wide Association And Next Generation Sequencing Approaches To Map Determinants Of Ascites In Broiler Chickens, Shatovisha Dey

Graduate Theses and Dissertations

These studies have investigated different candidate genomic regions for their contributions to ascites in broilers. Ascites syndrome is a manifestation of idiopathic pulmonary arteriole hypertension that concerns the poultry industry worldwide. Investigations have demonstrated the disease to be genetically regulated and to exhibit moderate to high heritabilities. Although previous studies have indicated a few chromosomes to be involved with ascites, no genes have been identified to date with direct links to the disease. This dissertation presents a collection of studies that determine the genomic and genetic interactions for regions on chromosome 2 and 9 for ascites phenotypes in broiler chickens. …


The Assessment And Etiology Of Novelty Seeking And Rule-Breaking In Young Children, Emma Brittany Diaz Aug 2017

The Assessment And Etiology Of Novelty Seeking And Rule-Breaking In Young Children, Emma Brittany Diaz

Theses

This study explored the stability and heritability of novelty seeking, defiance, and rule-breaking in early childhood using a twin sample. Parent reports of novelty seeking were assessed at ages 3 and 4, parent reports of rule-breaking were assessed at ages 5 and follow-up (6-16), and observer reports of defiance were assessed at age 5. Results showed that novelty seeking increased between ages 3 and 4, and rule-breaking remained stable from age 5 to follow-up (6-16). All constructs demonstrated significant heritability. Finally, neither novelty seeking nor defiance predicted 5-year-old rule-breaking. Defiance was the only construct that significantly predicted follow-up rule-breaking. Defiance …


Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease., David W Fardo, Laura E Gibbons, Shubhabrata Mukherjee, M Maria Glymour, Wayne Mccormick, Susan M Mccurry, James D Bowen, Eric B Larson, Paul K Crane Aug 2017

Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease., David W Fardo, Laura E Gibbons, Shubhabrata Mukherjee, M Maria Glymour, Wayne Mccormick, Susan M Mccurry, James D Bowen, Eric B Larson, Paul K Crane

Articles, Abstracts, and Reports

INTRODUCTION: Findings for genetic correlates of late-onset Alzheimer's disease (LOAD) in studies that rely solely on clinic visits may differ from those with capacity to follow participants unable to attend clinic visits.

METHODS: We evaluated previously identified LOAD-risk single nucleotide variants in the prospective Adult Changes in Thought study, comparing hazard ratios (HRs) estimated using the full data set of both in-home and clinic visits (n = 1697) to HRs estimated using only data that were obtained from clinic visits (n = 1308). Models were adjusted for age, sex, principal components to account for ancestry, and additional health indicators.

RESULTS: …


Behavioral And Neuroanatomical Assessment Of Transgenic Mouse Models Of Language-Related Developmental Disorders, Amanda R. Rendall Jul 2017

Behavioral And Neuroanatomical Assessment Of Transgenic Mouse Models Of Language-Related Developmental Disorders, Amanda R. Rendall

Doctoral Dissertations

Language encompasses an ability to acquire and integrate complex cognitive systems in order to communicate with others, and inherited factors are thought to play a key role in modulating these emergent skills. In recent years, the role of genetics in language has gained focus and attention, based on accumulating empirical knowledge about the genes, proteins, and cellular machinery involved. In particular, disruption to various mechanisms has been shown to relate to impairments in language -- as seen in neurodevelopmental disorders such as autism, dyslexia and SLI. Mouse models can serve as a useful tool in studying the genetic modulators of …


Phylogeography Of Scaled Quail, Damon L. Williford, Randall W. Deyoung, Leonard A. Brennan, Fidel Hernandez, Rodney L. Honeycutt Jul 2017

Phylogeography Of Scaled Quail, Damon L. Williford, Randall W. Deyoung, Leonard A. Brennan, Fidel Hernandez, Rodney L. Honeycutt

National Quail Symposium Proceedings

Scaled quail (Callipepla squamata) are distributed over much of the Chihuahuan Desert in the United States and south into central Mexico. Four subspecies have been described based on slight variations in coloration and body size, but the distinctiveness of the subspecies is unknown. We conducted a range-wide phylogeographic analysis of scaled quail based on the mitochondrial control region (D-loop). Our objectives were to: (1) ascertain the overall genetic diversity, (2) examine the phylogeographic structure of the scaled quail, and (3) examine the genetic distinctiveness of its 4 subspecies. We obtained D-loop sequences from 190 hunter-harvested wings and 38 museum specimens. …


Phylogeography Of Bobwhites, Damon L. Williford, Randall W. Deyoung, Leonard A. Brennan, Fidel Hernandez, Rodney L. Honeycutt Jul 2017

Phylogeography Of Bobwhites, Damon L. Williford, Randall W. Deyoung, Leonard A. Brennan, Fidel Hernandez, Rodney L. Honeycutt

National Quail Symposium Proceedings

Bobwhites (Colinus spp.) are a widely distributed genus of New World quails. Four species are recognized with a geographic range spanning the eastern United States to northern South America. The northern bobwhite (C. virginianus) historically occurred throughout much of the eastern United States and eastern Mexico with disjunct populations in Sonora and Cuba. The Yucata ́n bobwhite (C. nigrogularis) occurs in allopatric populations in Nicaragua and Honduras, and on the Yucata ́n Peninsula. The spot-bellied and crested bobwhites (C. leucopogon and C. cristatus) constitute a species complex with the spot-bellied bobwhite distributed from Guatemala to Costa Rica, and the crested …


Genetic Structure And Diversity In South Texas Bobwhites: Implications For Conservation, Randall W. Deyoung, Erin M. Wehland, Damon L. Williford, Angeline Zamorano, Joseph P. Sands, Leonard A. Brennan, Fidel Hernandez, Stephen J. Demaso, Robert M. Perez Jul 2017

Genetic Structure And Diversity In South Texas Bobwhites: Implications For Conservation, Randall W. Deyoung, Erin M. Wehland, Damon L. Williford, Angeline Zamorano, Joseph P. Sands, Leonard A. Brennan, Fidel Hernandez, Stephen J. Demaso, Robert M. Perez

National Quail Symposium Proceedings

The northern bobwhite (Colinus virginianus) has experienced range-wide declines in population size and reductions in geographic range during the last century. Declines in northern bobwhite population size and geographic distribution continue to occur despite vigorous conservation and research efforts directed at sustaining and enhancing populations. Viable populations of northern bobwhite have persisted only in areas with large expanses of relatively contiguous habitat, such as southern Texas, parts of Oklahoma, Kansas, and areas in southern Georgia and northern Florida. The decline of northern bobwhite populations is often associated with changes in land- use practices, including proliferation of intensive agriculture and fire …