Genetics and Genomics Commons^™

Absence Of Coding Somatic Single Nucleotide Variants Within Well-Known Candidate Genes In Late-Onset Sporadic Alzheimer's Disease Based On The Analysis Of Multi-Omics Data, Shishi Min, Zongchang Li, Annie Shieh, Gina Giase, Ney Alliey Rodriguez

School of Medicine Publications

Somatic mutations arise randomly or are induced by environmental factors, which may increase the risk of Alzheimer's disease (AD). Identifying somatic mutations in sporadic AD (SAD) may provide new insight of the disease. To evaluate the potential contribution of somatic single nucleotide variations (SNVs), particularly that of well-known AD-candidate genes, we investigated sequencing data sets from four platforms: whole-genome sequencing (WGS), deep whole-exome sequencing (WES) on paired brain and liver samples, RNA sequencing (RNA-seq), and single-cell whole-genome sequencing (scWGS) of brain samples from 16 AD patients and 16 non-AD individuals. We found that the average number, mean variant allele fractions …

Clinical Predictors Of Non-Response To Lithium Treatment In The Pharmacogenomics Of Bipolar Disorder (Pgbd) Study, Yian Lin, Adam X. Maihofer, Emma Stapp, Megan Ritchey, Ney Alliey Rodriguez

School of Medicine Publications

Background: Lithium is regarded as a first-line treatment for bipolar disorder (BD), but partial response and non-response commonly occurs. There exists a need to identify lithium non-responders prior to initiating treatment. The Pharmacogenomics of Bipolar Disorder (PGBD) Study was designed to identify predictors of lithium response.

Methods: The PGBD Study was an eleven site prospective trial of lithium treatment in bipolar I disorder. Subjects were stabilized on lithium monotherapy over 4 months and gradually discontinued from all other psychotropic medications. After ensuring a sustained clinical remission (defined by a score of ≤3 on the CGI for 4 weeks) had been …

Anterior-Posterior Axis Of Hippocampal Subfields Across Psychoses: A B-Snip Study, Elisabetta C. Del Re, Victor Zeng, Ney Alliey-Rodriguez, Paulo Lizano, Nicolas Bolo

School of Medicine Publications

Background: The hippocampus (HP) is affected across psychoses, including schizophrenia (SZ), bipolar type 1 (BDP) and schizoaffective (SAD) disorders. We examined HP subfield volumetric abnormalities along the anterior-posterior (ventral-dorsal) axis of the HP in psychosis probands, defined by traditional (DSM) diagnoses and biologically defined subtypes (biotypes, based on cognition and electrophysiology). We hypothesized that biotypes would be better discriminated by HP longitudinal axis subfields abnormalities than DSM. Methods: The sample included 455 probands from the Bipolar Schizophrenia Network for intermediate Phenotypes (BSNIP) dataset (age 35 ± 12.0): 124 unaffected (age 40.4 ± 15.8) and 299 healthy controls (HC; 37 ± …

Co-Option Of The Yolkless Oocyte Receptor For Crispr/Cas9 May Induce Transient Sterility In Female Drosophila Grimshawi Flies, Bronwyn Miller

LSU New Orleans Theses and Dissertations

Evolutionary developmental biology has historically used generalist model organisms like Drosophila melanogaster. The Hawaiian Drosophilidae radiation, which occurred just 25 million years ago, is an ideal lineage for work in Evo-Devo. Hawaiian flies make up 25% of the world’s Drosophila species and extreme diversity is seen throughout the group. D. grimshawi is a generalist Hawaiian picture-wing fly that has served as a model for the Hawaiian Drosophilidae radiation. However, D. grimshawi’s power and use as a model organism is constrained by our lack of ability to manipulate its genome. In this work, I attempted to edit the genome of …

Using Artificial Intelligence To Decipher Epigenetic Code Of Drug Resistance In The Deadliest Human Malaria Parasite, Samira Jahangiri

USF Tampa Graduate Theses and Dissertations

Malaria remains one of the immense global public health challenges, with an estimated ~200 million cases worldwide in 2019 despite the remarkable gains in reducing this deadly disease over the past decade. The recent emergence and spread of artemisinin resistance (ART-R) in Plasmodium falciparum will increasingly impede global efforts to control and eliminate malaria. Previous studies have observed broad transcriptional changes and identified several noncoding genetic variants strongly associated with ART-R. The broad transcriptional variations suggest that the malaria parasite uses sophisticated epigenetic regulation to survive under drug pressure. Therefore, evaluating the regulatory effects of noncoding-variants in malaria parasites is …

Evaluation Of Deep Neural Network Prospr For Accurate Protein Distance Predictions On Casp14 Targets, Jacob A. Stern, Bryce Eric Hedelius, Olivia Fisher, Wendy M. Billings, Dennis Della Corte

Faculty Publications

The field of protein structure prediction has recently been revolutionized through the introduction of deep learning. The current state-of-the-art tool AlphaFold2 can predict highly accurate structures; however, it has a prohibitively long inference time for applications that require the folding of hundreds of sequences. The prediction of protein structure annotations, such as amino acid distances, can be achieved at a higher speed with existing tools, such as the ProSPr network. Here, we report on important updates to the ProSPr network, its performance in the recent Critical Assessment of Techniques for Protein Structure Prediction (CASP14) competition, and an evaluation of its …

Genome-Scale Data Reveal Deep Lineage Divergence And A Complex Demographic History In The Texas Horned Lizard (Phrynosoma Cornutum) Throughout The Southwestern And Central Us, Nicholas Finger, Keaka Farleigh, Jason T. Bracken, Adam D. Leaché, Olivier François, Ziheng Yang, Tomas Flouri, Tristan Charran, Tereza Jezkova, Dean A. Williams, Christopher Blair

Publications and Research

The southwestern and central US serve as an ideal region to test alternative hypotheses regarding biotic diversification. Genomic data can now be combined with sophisticated computational models to quantify the impacts of paleoclimate change, geographic features, and habitat heterogeneity on spatial patterns of genetic diversity. In this study we combine thousands of genotyping-by-sequencing (GBS) loci with mtDNA sequences (ND1) from the Texas Horned Lizard (Phrynosoma cornutum) to quantify relative support for different catalysts of diversification. Phylogenetic and clustering analyses of the GBS data indicate support for at least three primary populations. The spatial distribution of populations appears concordant …

Comparison Of Multiple Imputation Algorithms And Verification Using Whole-Genome Sequencing In The Cmuh Genetic Biobank, Ting-Yuan Liu, Chih-Fan Lin, Hsing-Tsung Wu, Ya-Lun Wu, Yu-Chia Chen, Chi-Chou Liao, Yu-Pao Chou, Dysan Chao, Hsing-Fang Lu, Ya-Sian Chang, Jan-Gowth Chang, Kai-Cheng Hsu, Fuu‑Jen Tsai

BioMedicine

A genome-wide association study (GWAS) can be conducted to systematically analyze the contributions of genetic factors to a wide variety of complex diseases. Nevertheless, existing GWASs have provided highly ethnic specific data. Accordingly, to provide data specific to Taiwan, we established a large-scale genetic database in a single medical institution at the China Medical University Hospital. With current technological limitations, microarray analysis can detect only a limited number of single-nucleotide polymorphisms (SNPs) with a minor allele frequency of >1%. Nevertheless, imputation represents a useful alternative means of expanding data. In this study, we compared four imputation algorithms in terms of …

Phylogenomics Of Alligator Lizards Elucidate Diversification Patterns Across The Mexican Transition Zone And Support The Recognition Of A New Genus, Christopher Blair, Robert W. Bryson Jr, Uri O. García-Vázquez, Adrián Nieto-Montes De Oca, David Lazcano, John E. Mccormack, John Klicka

Publications and Research

Genomic data continue to advance our understanding of species limits and biogeographic patterns. However, there is still no consensus regarding appropriate methods of phylogenomic analysis that make the best use of these heterogeneous data sets. In this study, we used thousands of ultraconserved element (UCE) loci from alligator lizards in the genus Gerrhonotus to compare and contrast species trees inferred using multiple contemporary methods and provide a time frame for biological diversification across the Mexican Transition Zone (MTZ). Concatenated maximum likelihood (ML) and Bayesian analyses provided highly congruent results, with differences limited to poorly supported nodes. Similar topologies were inferred …

Relationship Of Cultivated Grain Amaranth Species And Wild Relative Accessions, Ranjita Thapa, Matthew Edwards, Matthew W. Blair

Agricultural and Environmental Sciences Faculty Research

Amaranthus is a genus of C4 dicotyledonous herbaceous plants, and three New World species have been domesticated to produce grain crops with light colored seed which are classified as pseudo-cereals rich in protein and minerals. A core collection of grain amaranths and immediate precursor species has been established, representing the closest related species. The goal of this study was to evaluate the genetic diversity in that collection of cultivated and wild species, using competitive allele single nucleotide polymorphism markers. A secondary objective was to determine the relationships among the three cultivated species and non-domesticated Amaranthus, while a third objective was …

Soil Bacteria In Urban Community Gardens Have The Potential To Disseminate Antimicrobial Resistance Through Horizontal Gene Transfer, Abdullah Ibn Mafiz, Yingshu He, Wei Zhang, Yifan Zhang

Agricultural and Environmental Sciences Faculty Research

Fifteen soil and 45 vegetable samples from Detroit community gardens were analyzed for potential antimicrobial resistance contamination. Soil bacteria were isolated and tested by antimicrobial susceptibility profiling, horizontal gene transfer, and whole-genome sequencing. High-throughput 16S rRNA sequencing analysis was conducted on collected soil samples to determine the total bacterial composition. Of 226 bacterial isolates recovered, 54 were from soil and 172 from vegetables. A high minimal inhibitory concentration (MIC) was defined as the MIC greater than or equal to the resistance breakpoint of Escherichia coli for Gram-negative bacteria or Staphylococcus aureus for Gram-positive bacteria. The high MIC was observed in …

Biomarkers For Resistance To Porcine Circovirus 2 Associated Disease, Daniel Constantin Ciobanu, Lianna Rayne Walker, Taylor Benjamin Engle, Hiep Vu

Department of Animal Science: Faculty Publications

The present disclosure provides compositions and methods for increasing resistance to PCV2 infection in pigs. The increased resistance may be the result of siRNA or genetic modification through CRISPR or a vectored virus targeting SNPs that are resistant to PCV2 infection.

The Evolutionary Origins Of Autism Associated Genes And Their Role In Great Ape Socio-Communicative Behavior, Azeeza Abdulrauf

Master of Science in Integrative Biology Theses

Autism Spectrum Disorder (ASD) is a set of neurological disorders characterized by reduced social interactions and deficits in verbal and nonverbal communication. Although there are no clear genetic markers for ASD, studies have found associations between gene single nucleotide polymorphisms (SNPs) and patients diagnosed with ASD. For this study, the focus is on OXTR, AVPR1A, and FOXP2. OXTR is reported to regulate empathy and stress reactivity while AVPR1A is reported to regulate stress management and territorial aggression, as well as social bonding and recognition. FOXP2 is one of the first genes to be associated with both speech and language recognition …

Editorial For The Genetics Of Alzheimer’S Disease Special Issue: October 2021, Laura Ibanez, Justin B. Miller

Sanders-Brown Center on Aging Faculty Publications

No abstract provided.

Genomics Of Postprandial Lipidomics In The Genetics Of Lipid-Lowering Drugs And Diet Network Study, Marguerite R. Irvin, May E. Montasser, Tobias Kind, Sili Fan, Dinesh K. Barupal, Amit Patki, Rikki M. Tanner, Nicole D. Armstrong, Kathleen A. Ryan, Steven A. Claas, Jeffrey R. O’Connell, Hemant K. Tiwari, Donna K. Arnett

Epidemiology and Environmental Health Faculty Publications

Postprandial lipemia (PPL) is an important risk factor for cardiovascular disease. Inter-individual variation in the dietary response to a meal is known to be influenced by genetic factors, yet genes that dictate variation in postprandial lipids are not completely characterized. Genetic studies of the plasma lipidome can help to better understand postprandial metabolism by isolating lipid molecular species which are more closely related to the genome. We measured the plasma lipidome at fasting and 6 h after a standardized high-fat meal in 668 participants from the Genetics of Lipid-Lowering Drugs and Diet Network study (GOLDN) using ultra-performance liquid chromatography coupled …

Two New Species Of Byrrhinus Motschulsky, 1858 (Coleoptera, Limnichidae, Limnichinae) From Negros, Philippines, Emmanuel D. Delocado, Hendrik Freitag

Biology Faculty Publications

Two new species of Limnichidae beetles, Byrrhinus negrosensis sp. nov. and Byrrhinus villarini sp. nov., are described from the Island of Negros in the Philippines. The adult specimens of the new species can be differentiated by patterns of body punctation, colour and orientation of elytral pubescence, posterolateral angle of pronotum, tarsomere length ratio and aedeagal form. Two clades, representing the two new species, were retrieved in the Maximum Likelihood gene tree using the 3’-end of the COI gene. Maximum genetic divergence within B. negrosensis sp. nov. and B. villarini sp. nov. were recorded to be 2.3% and 1.3%, respectively, while …

Dual Activities Of Acc Synthase: Novel Clues Regarding The Molecular Evolution Of Acs Genes, Chang Xu, Bowei Hao, Gongling Sun, Yuanyuan Mei, Lifang Sun, Yunmei Sun, Yibo Wang, Yongyan Zhang, Wei Zhang, Mengyuan Zhang, Yue Zhang, Dan Wang, Zihe Rao, Xin Li, Jeffery Shen, Ning Ning Wang

Life Sciences Faculty Research

Ethylene plays profound roles in plant development. The rate-limiting enzyme of ethylene biosynthesis is 1-aminocyclopropane-1-carboxylate (ACC) synthase (ACS), which is generally believed to be a single-activity enzyme evolving from aspartate aminotransferases. Here, we demonstrate that, in addition to catalyzing the conversion of S-adenosyl-methionine to the ethylene precursor ACC, genuine ACSs widely have Cβ-S lyase activity. Two N-terminal motifs, including a glutamine residue, are essential for conferring ACS activity to ACS-like proteins. Motif and activity analyses of ACS-like proteins from plants at different evolutionary stages suggest that the ACC-dependent pathway is uniquely developed in seed plants. A putative catalytic mechanism for …

Protein Kinase A And 59 Amp-Activated Protein Kinase Signaling Pathways Exert Opposite Effects On Induction Of Autophagy In Luteal Cells, Emilia Przygrodzka, Corrine F. Monaco, Michele R. Plewes, Guojuan Li, Jennifer R. Wood, Andrea Cupp, John S. Davis

Department of Animal Science: Faculty Publications

In the absence of pregnancy the ovarian corpus luteum undergoes regression, a process characterized by decreased production of progesterone and structural luteolysis involving apoptosis. Autophagy has been observed in the corpus luteum during luteal regression. Autophagy is a self-degradative process important for balancing sources of cellular energy at critical times in development and in response to nutrient stress, but it can also lead to apoptosis. Mechanistic target of rapamycin (MTOR) and 5′ AMP-activated protein kinase (AMPK), key players in autophagy, are known to inhibit or activate autophagy, respectively. Here, we analyzed the signaling pathways regulating the initiation of autophagy in …

Sampling Bias Exaggerates A Textbook Example Of A Trophic Cascade, Elaine M. Brice, Eric J. Larsen, Daniel R. Macnulty

Aspen Bibliography

Understanding trophic cascades in terrestrial wildlife communities is a major challenge because these systems are difficult to sample properly. We show how a tradition of non-random sampling has confounded this understanding in a textbook system (Yellowstone National Park) where carnivore [Canis lupus (wolf)] recovery is associated with a trophic cascade involving changes in herbivore [Cervus canadensis (elk)] behaviour and density that promote plant regeneration. Long-term data indicate a practice of sampling only the tallest young plants overestimated regeneration of overstory aspen (Populus tremuloides) by a factor of 4–7 compared to random sampling because it favoured plants taller than the preferred …

Investigation Of Arabidopsis Extremophyte Relatives, Schrenkiella Parvula And Eutrema Salsugineum Reveals Different Roads Leading To Salt Stress Tolerance, Kieu-Nga Thi Tran

LSU Doctoral Dissertations

How plants adapt to salt stress has been a central question in plant biology for decades. Yet we have not been able to fully understand the molecular networks and genetic mechanisms underlying this complex trait. Most of the genetic work on salinity stress has focused on understanding salt stress responses in the leading, yet a salt-sensitive model Arabidopsis thaliana. With the recent availability of genomes for wild-relatives of A. thaliana, we can now investigate how naturally salt adapted plants may have evolved modified or novel molecular networks to adapt to salt stress. Therefore, my research utilizes a comparative …