Genetics and Genomics Commons^™

Genomes Of Endangered Great Hammerhead And Shortfin Mako Sharks Reveal Historic Population Declines And High Levels Of Inbreeding In Great Hammerhead, Michael J. Stanhope, Kristina M. Ceres, Qi Sun, Minghui Wang, Jordan D. Zehr, Nicholas J. Marra, Aryn P. Wilder, Cheng Zou, Andrea M. Bernard, Paulina D. Pavinski Bitar, Mitchell G. Lokey, Mahmood Shivji

Biology Faculty Articles

Despite increasing threats of extinction to Elasmobranchii (sharks and rays), whole genome-based conservation insights are lacking. Here, we present chromosome-level genome assemblies for the Critically Endangered great hammerhead (Sphyrna mokarran) and the Endangered shortfin mako (Isurus oxyrinchus) sharks, with genetic diversity and historical demographic comparisons to other shark species. The great hammerhead exhibited low genetic variation, with 8.7% of the 2.77 Gbp genome in runs of homozygosity (ROH) > 1 Mbp and 74.4% in ROH >100 kbp. The 4.98 Gbp shortfin mako genome had considerably greater diversity and 1 Mbp. Both these sharks experienced precipitous declines in …

Systemic Interindividual Epigenetic Variation In Humans Is Associated With Transposable Elements And Under Strong Genetic Control, Eleonora Laritsky, Goo Jun, Yumei Li, Rui Chen, Joseph L Wiemels, Cristian Coarfa, Robert A Waterland

Faculty, Staff and Student Publications

BACKGROUND: Genetic variants can modulate phenotypic outcomes via epigenetic intermediates, for example at methylation quantitative trait loci (mQTL). We present the first large-scale assessment of mQTL at human genomic regions selected for interindividual variation in CpG methylation, which we call correlated regions of systemic interindividual variation (CoRSIVs). These can be assayed in blood DNA and do not reflect interindividual variation in cellular composition.

RESULTS: We use target-capture bisulfite sequencing to assess DNA methylation at 4086 CoRSIVs in multiple tissues from each of 188 donors in the NIH Gene-Tissue Expression (GTEx) program. At CoRSIVs, DNA methylation in peripheral blood correlates with …

Investigating The Absence Of A Dietary Response At The Neuromuscular Junction In Larval Drosophila Melanogaster, Suzanna Louise Marbach

Honors Program Theses and Research Projects

Research in Drosophila melanogaster (D. melanogaster) has been growing in order to identify the fundamental processes of human disorders of the central nervous system such as Alzheimer’s disease, diabetes, and other neurological disorders at a molecular level. Altered insulin signaling itself has been linked to widespread nervous system dysfunction including cognitive dysfunction, neuropathies, and susceptibility to neurodegenerative disease. However, knowledge of the cellular mechanisms underlying the effects of insulin on nervous system function is still incomplete. The focus behind investigating the insulin signaling pathway is derived from our observations in the adult D. melanogaster neuromuscular junction (NMJ) to changes in …

Evaluation Of Precision Livestock Technology And Human Scoring Of Nursery Pigs In A Controlled Immune Challenge Experiment, Eduarda M. Bortoluzzi, Mikayla J. Goering, Sara J. Ochoa, Aaron J. Holliday, Jared M. Mumm, Catherine E. Nelson, Hui Wu, Benny E. Mote, Eric T. Psota, Ty B. Schmidt, Majid Jaberi-Douraki, Lindsey E. Hulbert

Department of Animal Science: Faculty Publications

The objectives were to determine the sensitivity, specificity, and cutoff values of a visual-based precision livestock technology (NUtrack), and determine the sensitivity and specificity of sickness score data collected with the live observation by trained human observers. At weaning, pigs (n = 192; gilts and barrows) were randomly assigned to one of twelve pens (16/pen) and treatments were randomly assigned to pens. Sham-pen pigs all received subcutaneous saline (3 mL). For LPS-pen pigs, all pigs received subcutaneous lipopolysaccharide (LPS; 300 µg/kg BW; E. coli O111:B4; in 3 mL of saline). For the last treatment, eight pigs were randomly …

Evaluation Of Precision Livestock Technology And Human Scoring Of Nursery Pigs In A Controlled Immune Challenge Experiment, Eduarda M. Bortoluzzi, Mikayla J. Goering, Sara J. Ochoa, Aaron J. Holliday, Jared M. Mumm, Catherine E. Nelson, Hui Wu, Benny Mote, Eric T. Psota, Ty B. Schmidt, Majid Jaberi-Douraki, Lindsey E. Hulbert

Department of Animal Science: Faculty Publications

The objectives were to determine the sensitivity, specificity, and cutoff values of a visual-based precision livestock technology (NUtrack), and determine the sensitivity and specificity of sickness score data collected with the live observation by trained human observers. At weaning, pigs (n = 192; gilts and barrows) were randomly assigned to one of twelve pens (16/pen) and treatments were randomly assigned to pens. Sham-pen pigs all received subcutaneous saline (3 mL). For LPS-pen pigs, all pigs received subcutaneous lipopolysaccharide (LPS; 300 μg/kg BW; E. coli O111:B4; in 3 mL of saline). For the last treatment, eight pigs were randomly …

Assessment Of Carbon Productivity Dynamics In Aspen Stands Under Climate Change Based On Forest Inventories In Central Siberia, Andrey Andreevich Vais, Valentina Valerievna Popova, Alina Andreevna Andronova, Viktor Nikolaevich Nemich, Artem Gennadievich Nepovinnykh, Pavel Vladimirovich Mikhaylov

Aspen Bibliography

The aim of the present research was to study the dynamics of growth and conditions of aspen stands under climate change, according to different periods of forest inventory. The study was conducted in modal aspen forests growing in the subtaiga/forest steppe region of Central Siberia. Aspen forests grow intensively at young age, which allows them to realize maximum carbon sequestration potential. The research was based on forest inventory data from 1972, 1982, 2002, and 2021 (the study was conducted on a limited territory). There was a steady increase in temperatures in the growing season from 1982 to 2002. The amount …

Clustering Climate And Management Practices To Define Environmental Challenges Affecting Gastrointestinal Parasitism In Katahdin Sheep, Brian C. Arisman, Joan M. Burke, James L. M. Morgan, Ronald M. Lewis

Department of Animal Science: Faculty Publications

Gastrointestinal nematodes (GIN) negatively affect the performance and well-being of sheep. Due to anthelmintic resistance, GIN are difficult to control leading producers to choose breeds that can exhibit resistance to parasitism. An example is Katahdin sheep. Katahdins are raised in various climates and management systems in the United States. These environmental factors can be combined to form eco-management groupings or clusters. We hypothesized that GIN challenge varies predictably based on the characteristics of these environmental clusters. Forty Katahdin producers from across the United States were surveyed for management information, with body weights (BW), fecal egg counts (FEC), and FAMACHA scores …

Effects Of High-Pressure Processing On Cooked Color And Eating Qualities Of Dark-Cutting Beef, Cole Reesman, Gary Sullivan, Mary-Grace C. Danao, Gretchen G. Mafi, Morgan Pfeiffer, Ranjith Ramanathan

Department of Animal Science: Faculty Publications

High meat pH leads to an undercooked or an abnormal pink appearance in fully-cooked product. High-pressure processing (HPP) promotes protein denaturation. The objective was to evaluate the effects of HPP on cooked steak color and sensory attributes of dark-cutting beef. USDA Choice (mean pH = 5.5) and dark-cutting (mean pH = 6.3) strip loin sections were vacuum packaged and treated with 0 (no HPP), 300, 450, and 600 MPa of pressure for 90 s using chilled water. Steaks were randomly assigned to measure external cooked color, Warner- Bratzler shear force, and trained sensory panel. Applying 300 MPa of pressure improved …

A Comparison Of Microsatellites And Single Nucleotide Polymorphisms For The Assessment Of Population Structure In The Amblyomma Maculatum Koch, 1844 Species Complex, Henrey A. Deese

Electronic Theses and Dissertations

The Gulf Coast tick, Amblyomma maculatum Koch, 1844 is widespread throughout North and Central America and is the primary vector for the emerging pathogen Rickettsia parkeri. In the U.S., the population in the Southwest (A. maculatum morphotype III) is morphologically different from the population east of the Rocky Mountains (A. maculatum morphotype II). This research tests the hypothesis that A. maculatum morphotype II and morphotype III represent distinct species through the analysis and comparison of 6 microsatellite loci and suite of 135,221 Single nucleotide polymorphisms (SNPs) generated from ddRADseq. Population genetic analysis of both microsatellites and SNPs …

A Computational Analysis Of Hybrid Genome Assembly Strategies, Joseph Walewski

Computer Science Honors Papers

The central dogma of molecular biology states that DNA is transcribed to RNA and then translated into proteins. Since DNA is the starting material for many of biology’s macromolecules, it has been referred to as “nature’s instruction book.” The sum of all DNA in a cell is referred to as the genome, and genome sequencing is how we interpret the DNA.

Due to limitations on currently available technology, it is not possible to retrieve the entire genome in one contiguous set of data. Therefore, genome sequencing is a computer science problem as sequencing “reads” must be stitched together to obtain …

Molecular Regulation Of The Salicylic Acid Hormone Pathway In Plants Under Changing Environmental Conditions, Christina A. M. Rossi, Eric J. R. Marchetta, Jong Hum Kim, Christian Castroverde

Biology Faculty Publications

Salicylic acid (SA) is a central plant hormone mediating immunity, growth, and development. Recently, studies have highlighted the sensitivity of the SA pathway to changing climatic factors and the plant microbiome. Here we summarize organizing principles and themes in the regulation of SA biosynthesis, signaling, and metabolism by changing abiotic/biotic environments, focusing on molecular nodes governing SA pathway vulnerability or resilience. We especially highlight advances in the thermosensitive mechanisms underpinning SA-mediated immunity, including differential regulation of key transcription factors (e.g., CAMTAs, CBP60g, SARD1, bHLH059), selective protein–protein interactions of the SA receptor NPR1, and dynamic phase separation of the recently identified …

The Evolutionary Causes And Consequences Of Mammalian Hybridization, Kelsie E. Hunnicutt

Electronic Theses and Dissertations

The natural recombination of divergent genomes within hybrid offspring provides windows through which we can study evolutionary processes and the dynamics of speciation. In this work, I use a combination of comparative and population genomics on both laboratory crosses of divergent rodent lineages and a hybrid zone of cottontail rabbits in the wild to study the causes and consequences of hybridization in mammals. Hybrid sterility is a common reproductive barrier between species that tends to preferentially manifest in the heterogametic sex and frequently genetically maps to the sex chromosomes. Thus, the sex chromosomes appear to play a special role in …

Polygenic Scores Ignore Development And Epigenetics, Dramatically Reducing Their Value, David S. Moore

Pitzer Faculty Publications and Research

Polygenic scores cannot elucidate the mechanisms that produce behavioral phenotypes (including “intelligence”). Therefore, they are unlikely to yield helpful interventions. Moreover, they are poor predictors of individuals’ developmental outcomes. Burt’s critique is well-supported by the details of molecular biology. Specifically, experiences affect epigenetic factors that influence phenotypes via how the genome functions, a fact that lends support to Burt’s conclusions.

Molecular And Systemic Epigenetic Inheritance: Integrating Development, Genetics, And Evolution, Robert Lickliter, David S. Moore

Pitzer Faculty Publications and Research

Currently, a central problem for theoretical biology is the integration of development with genetics and evolutionary theory. Through the late 20^th century, biologists held that animals resemble their ancestors strictly because of the transgenerational transmission of DNA. This view effectively wrote development out of evolutionary biology. However, many molecular and developmental biologists now understand that phenotypes—anatomical, physiological, and behavioral traits—are not determined by genes (i.e., DNA segments) alone; instead, they emerge epigenetically from developmental processes involving co-acting genetic factors, environmental factors, molecular epigenetic factors, and other non-genetic factors within organisms’ bodies. This insight forces a rethinking of biological inheritance. …

Analysis Of A Cathepsin Protease In Normal Development And Tumor Metastasis In Drosophila Melanogaster, Lindsey Fannin

Mahurin Honors College Capstone Experience/Thesis Projects

Cysteine cathepsins are an important class of fifteen proteases with involvement in normal development and tumor progression. To better understand their contribution to these processes, the cathepsin L protease in Drosophila melanogaster was studied. In part one of this project, the role of this cathepsin in the normal development of Drosophila wings was analyzed. The GAL4/UAS-system and RNAi were used to downregulate this cathepsin in various regions of the wing and progeny were inspected for phenotypic irregularities. An abnormal phenotype of curved wings was found and hypothesized to be a result of apoptosis. Further experimentation will be required to prove …

White Coat Color Of A Black Angus Calf Attributed To An Occurrence Of The Delr217 Variant Of Mitf, Jessica Lynn Petersen, Renae Sieck, David Steffen

Department of Animal Science: Faculty Publications

A white calf, with minimal pigmented markings, was born to two registered Black Angus parents. Given the possibility of an unknown recessive or de novo dominant mutation, whole-genome sequencing was conducted on the trio of individuals. A 3-bp in-frame deletion in MITF was identified; this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome. Given the coat color phenotype and identity of the mutation, our data support that this calf represents the first instance of this recurring MITF mutation in cattle.

Clonal Diversity, Antibiotic Resistance, And Virulence Factor Prevalence Of Community Associated Staphylococcus Aureus In Southeastern Virginia, Katelyn D. Cranmer, Mohan D. Pant, Suzanne Quesnel, Julia A. Sharp

EVMS School of Health Professions Faculty Publications

Staphylococcus aureus is a significant human pathogen with a formidable propensity for antibiotic resistance. Worldwide, it is the leading cause of skin and soft tissue infections (SSTI), septic arthritis, osteomyelitis, and infective endocarditis originating from both community- and healthcare associated settings. Although often grouped by methicillin resistance, both methicillin-resistant (MRSA) and methicillin-sensitive (MSSA) strains are known to cause significant pathologies and injuries. Virulence factors and growing resistance to antibiotics play major roles in the pathogenicity of community-associated strains. In our study, we examined the genetic variability and acquired antibiograms of 122 S. aureus clinical isolates from SSTI, blood, and urinary …

Identification And Influence Of Species-Informative 16s Ribosomal Rna Sequences And Evaluation Of Ocean Biofilms, Nikhil Bose

Electronic Theses and Dissertations, 2020-2023

16S ribosomal RNA (rRNA) gene sequences are commonly analyzed for taxonomic and phylogenetic purposes because they contain variable regions that help distinguish genera. However, intra-genus classification is difficult due to high sequence similarity among closely related species. The biological impact of nucleotide variants in 16S variable regions are often unknown and hence their sequence differences are weighted evenly during classification, which provides poor species identity confidence. In this dissertation, I determined that analysis of intra-genus 16S allelic variants can provide species information and that nucleotide changes in 16S rRNA variable regions can impact ribosome quality. In one study, I analyzed …

Enhancement Of Developmental Defects In The Boron-Deficient Maize Mutant Tassel-Less1 By Reduced Auxin Levels, Michaela S. Matthes, Norman B. Best, Janlo M. Robil, Paula Mcsteen

Biology Faculty Publications

Background

Plant responses to deficiencies of the micronutrient boron are diverse and go beyond the well-characterized function of boron in cell wall crosslinking. To explain these phenotypic discrepancies, hypotheses about interactions of boron with various phytohormones have been proposed, particularly auxin. While these hypotheses are intensely tested in the root meristem of the model species, Arabidopsis thaliana, studies in crop species and the shoot are limited.

Aims

To address potential boron–auxin interactions during the vegetative and reproductive development of the crop maize (Zea mays), we utilized the boron-deficient tassel-less1 (tls1) mutant and the auxin-deficient vanishing tassel2 (vt2) mutant. We investigated …

Nuclear Phylogeny And Insights Into Whole-Genome Duplications And Reproductive Development Of Solanaceae Plants, Jie Wang, Weibin Xu, Junwen Zhai, Yi Hu, Jing Guo, Caifei Zhang, Yiyong Zhao, Lin Zhang, Christopher T. Martine, Hong Ma, Chien-Hsun Huang

Faculty Journal Articles

Solanaceae, the nightshade family, have ∼2700 species, including the important crops potato and tomato, ornamentals, and medicinal plants. Several sequenced Solanaceae genomes show evidence for whole-genome duplication (WGD), providing an excellent opportunity to investigate WGD and its impacts. Here, we generated 93 transcriptomes/genomes and combined them with 87 public datasets, for a total of 180 Solanaceae species representing all four subfamilies and 14 of 15 tribes. Nearly 1700 nuclear genes from these transcriptomic/genomic datasets were used to reconstruct a highly resolved Solanaceae phylogenetic tree with six major clades. The Solanaceae tree supports four previously recognized subfamilies (Goetzeioideae, Cestroideae, Nicotianoideae, …