Life Sciences Commons^™

Single Nucleotide Polymorphisms In Plasmodium Falciparum Genes: Their Roles In Antimalarial Drugs Resistance And Recent Detection Strategies, Raihanny Andrea Zahra, Ananda Maulana Fanshur, Aurelia Maria Prajna Saraswati, Nurul Inayah Rahmani

Indonesian Journal of Medical Chemistry and Bioinformatics

Introduction: Malaria is a serious tropical disease with Plasmodium falciparum as its most well-known causative parasite for producing higher levels of late stage parasites that leads to sequestration in vital organs which could lead to death. There is a growing trend of antimalarial drugs resistance against Plasmodium falciparum. Molecular assessment using polymerase chain reaction could trace the presence of mutation and also determine single-nucleotide polymorphism (SNP) in Plasmodium falciparum genes. This SNP can determine the particular population’s response to antimalarial drugs. Objectives: This study aims to examine the relationship between SNP in Plasmodium falciparum genes and antimalarial drugs resistance. …

Analysis Of Phenotypic Expression Associated With Different Genotypes Of The Blue/Brown Eyes Single Nucleotide Polymorphism, Jade Riddle, Taylor Mckinney

Fall Showcase for Research and Creative Inquiry

No abstract provided.

Population Genomic Dynamics Of Mesopelagic Lanternfishes Diaphus Dumerilii, Lepidophanes Guentheri, And Ceratoscopelus Warmingii (Family: Myctophidae) In The Gulf Of Mexico, Andrea Bernard, Kimberly A. Finnegan, Tracey Sutton, Ron Eytan, Max Weber, Mahmood Shivji

Marine & Environmental Sciences Faculty Articles

Assessing the impacts of the Deepwater Horizon oil spill (DWHOS) on deep-sea fish assemblages of the Gulf of Mexico (GOM) has been hindered by an absence of baseline (pre-spill) data concerning the population genetic dynamics of these fishes. The lanternfishes (Myctophidae) are a speciose, yet understudied, taxonomic group, that comprise a significant portion of the global deep-sea biomass, making them integral members of meso- and bathy-pelagic food webs. Herein, we used a genomic approach (double digest restriction site associated DNA sequencing) to investigate the temporal genetic dynamics of three species of lanternfishes within the northern GOM in the region of …

Effects Of Spatial And Temporal Heterogeneity On The Genetic Diversity Of The Alpine Butterfly Parnassius Smintheus, Mel Lucas

Electronic Thesis and Dissertation Repository

Genetic diversity represents a population’s evolutionary potential, as well as its demographic and evolutionary history. Advances in DNA sequencing have allowed the development of new and potentially powerful methods to quantify this diversity. However, when using these methods best practices for sampling populations and analyzing data are still being developed. Furthermore, while effects of the landscape on spatial patterns of genetic variation have received considerable attention, we have a poorer understanding of how genetic diversity changes as a result of temporal variation in environmental and demographic variables. Here, I take advantage of advances in DNA sequencing to investigate genetic diversity …

Identification Of Qtls For Berry Acids And Sugar In A Vitis Aestivalis-Derived 'Norton'-Based Population, Karlene Louise Negus

MSU Graduate Theses

Acidity and sugar content are among the grape berry quality traits that influence wine quality. Despite advantageous environmental tolerances of Vitis aestivalis-derived ‘Norton’, its acid and sugar concentrations often deviate from expectations set for V. vinifera. Identification of the genetic determinants of malic acid, tartaric acid, pH, and total soluble solids (TSS) can assist in the improvement of new hybrid cultivars. For this purpose, a ‘Norton’ and V. vinifera ‘Cabernet Sauvignon’ hybrid mapping population containing 223 individuals was used to construct a linkage map containing 384 simple sequence repeat (SSR) and 2084 genotyping-by-sequencing (GBS)-derived single nucleotide polymorphism (SNP) …

Heritability Enrichment Of Immunoglobulin G N-Glycosylation In Specific Tissues, Xingang Li, Hao Wang, Yahong Zhu, Weijie Cao, Song Manshu, Youxin Wang, Haifeng Hou, Minglin Lang, Xiuhua Guo, Xuerui Tan, Jingdong J. Han, Wei Wang

Research outputs 2014 to 2021

Genome-wide association studies (GWAS) have identified over 60 genetic loci associated with immunoglobulin G (IgG) N-glycosylation; however, the causal genes and their abundance in relevant tissues are uncertain. Leveraging data from GWAS summary statistics for 8,090 Europeans, and large-scale expression quantitative trait loci (eQTL) data from the genotype-tissue expression of 53 types of tissues (GTEx v7), we derived a linkage disequilibrium score for the specific expression of genes (LDSC-SEG) and conducted a transcriptome-wide association study (TWAS). We identified 55 gene associations whose predicted levels of expression were significantly associated with IgG N-glycosylation in 14 tissues. Three working scenarios, i.e., tissue-specific, …

Population Genomic Response To Geographic Gradients By Widespread And Endemic Fishes Of The Arabian Peninsula, Joseph D. Dibattista, Pablo Saenz-Agudelo, Marek J. Piatek, Edgar Fernando Cagua, Brian W. Bowen, John Howard Choat, Luiz A. Rocha, Michelle R. Gaither, Jean Paul A. Hobbs, Tane H. Sinclair-Taylor, Jennifer H. Mcilwain, Mark A. Priest, Camrin D. Braun, Nigel E. Hussey, Steven T. Kessel, Michael L. Berumen

Integrative Biology Publications

Genetic structure within marine species may be driven by local adaptation to their environment, or alternatively by historical processes, such as geographic isolation. The gulfs and seas bordering the Arabian Peninsula offer an ideal setting to examine connectivity patterns in coral reef fishes with respect to environmental gradients and vicariance. The Red Sea is characterized by a unique marine fauna, historical periods of desiccation and isolation, as well as environmental gradients in salinity, temperature, and primary productivity that vary both by latitude and by season. The adjacent Arabian Sea is characterized by a sharper environmental gradient, ranging from extensive coral …

Identification Of Snps Associated With Multiple Antibiotic Resistance Genes In Eight Clinical Variants Of Enterococcus Faecium., Krishna S. Karia

USF Tampa Graduate Theses and Dissertations

The evolution of multi drug resistant (MDR) bacteria has been well documented these last decade, suggesting that resistance to antibiotics is most commonly associated to single nucleotide polymorphism (SNPs) mutation. To this aim, several molecular methods have been performed to elucidate SNPs in the increasing number of resistant microorganisms. Early detection of MDR bacteria has become of prime necessity in order to combat the disease and ensure public health. Therefore, this research was conducted to screen for SNP mutations correlated to drug resistance in some nosocomial MDR bacteria strains donated from Moffitt Cancer Center (MCC) hospital. Blood, stool, urine, and …

Expression Changes Confirm Genomic Variants Predicted To Result In Allele-Specific, Alternative Mrna Splicing, Peter Rogan

Biochemistry Publications

Splice isoform structure and abundance can be affected by either noncoding or masquerading coding variants that alter the structure or abundance of transcripts. When these variants are common in the population, these nonconstitutive transcripts are sufficiently frequent so as to resemble naturally occurring, alternative mRNA splicing. Prediction of the effects of such variants has been shown to be accurate using information theory-based methods. Single nucleotide polymorphisms (SNPs) predicted to significantly alter natural and/or cryptic splice site strength were shown to affect gene expression. Splicing changes for known SNP genotypes were confirmed in HapMap lymphoblastoid cell lines with gene expression microarrays …

Single Nucleotide Polymorphisms In Micrornas Action As Biomarkers For Breast Cancer, Thanh Thi Ngoc Nguyen, Minh Thi Hong Tran, Vy Thi Lan Nguyen, Uyen Doan Phuong Nguyen, Giang Dien Thanh Nguyen, Luan Huu Huynh, Hue Thi Nguyen

Turkish Journal of Biology

MicroRNAs (miRNAs) have been recently described as small noncoding RNAs that are involved in numerous crucial physiological processes, such as cell cycles, differentiation, development, and metabolism. Thus, dysregulation of these molecules could lead to several severe disorders, including breast cancer (BC). Ongoing investigations in malignant growth diagnostics have distinguished miRNAs as promising disease biomarkers. As with any other mRNAs, single nucleotide polymorphisms (SNPs) in DNA sequence encoding for miRNA (miR-SNPs) indeed lead to potential changes in the function of miRNA. In this study, miR-SNPs located in different miRNA sequence regions, which have been associated with BC in different ways, and …

Effect Of Osteopontin Gene Variants On Milk Production Traits In Holstein Friesiancrossbred Cattle Of Kerala, Francis Anand Lali, Kulangara Anilkumar, Thazhathuveetil Aravindakshan

Turkish Journal of Veterinary & Animal Sciences

Osteopontin gene (OPN) is located in the quantitative trait loci (QTL) for milk production traits in bovine chromosome 6. In the present study the impact of cytosine to thymine transition in the intron-4 of OPN gene (g.8514C > T) on milk production traits was analysed in the Holstein Friesian crossbred cattle of Kerala. Genomic DNA was isolated and a fragment of 290 bp enclosing the polymorphic site was amplified and genotyped by restriction fragment length polymorphism (RFLP) using endonuclease, BSeN1. The genetic variants were distributed according to Hardy-Weinberg equilibrium. The T allele was found to be the major one (T/0.76, C/0.24) …

Late Pleistocene Range Expansion Of North American Topminnows Accompanied By Admixture And Introgression, David D. Duvernell, Eric Westhafer, Jacob F. Schaefer

Faculty Publications

Aim: We used genome‐scale sampling to assess the phylogeography of a group of topminnows in the Fundulus notatus species complex. Two of the species have undergone extensive range expansions resulting in broadly overlapping distributions, and sympatry within drainages has provided opportunities for hybridization and introgression. We assessed the timing and pattern of range expansion in the context of late Pleistocene–Holocene drainage events and evaluated the evidence for introgressive hybridization between species.

Location: Central and southern United States including drainages of the Gulf of Mexico Coastal Plain and portions of the Mississippi River drainage in and around the Central …

Cross-Species Utility Of The Mouse Diversity Genotyping Array In Assaying Single Nucleotide Polymorphisms, Rachel Kelly

Electronic Thesis and Dissertation Repository

In the study of genetic diversity in non-model species there is a notable lack of the low-cost, high resolution tools that are readily available for model organisms. Genotyping microarray technology for model organisms is well-developed, affordable, and potentially adaptable for cross-species hybridization. The Mouse Diversity Genotyping Array (MDGA), a single nucleotide polymorphism (SNP) genotyping tool designed for M. musculus, was tested as a tool to survey genomic diversity of wild species for inter-order, inter-family, inter-genus, and intra-genus comparisons. Application of the MDGA cross-species provides genetic distance information that reflects known taxonomic relationships reported previously between non-model species, but there …

Epidermal Growth Factor Receptor Rs17337023 Polymorphism In Hypertensive Gestational Diabetic Women: A Pilot Study, Russell S. Martins, Taimur Ahmed, Sabah Farhat, Sana Shahid, Syeda Sadia Fatima

Medical College Documents

Background: Women with gestational diabetes mellitus have an increased risk of developing gestational hypertension, which can increase fetal and neonatal morbidity and mortality. In the past decade, single nucleotide polymorphisms in several genes have been identified as risk factors for development of gestational hypertension. The epidermal growth factor receptor activates tyrosine kinase mediated blood vessels contractility; and inflammatory cascades. Abnormalities in these mechanism are known to contribute towards hypertension. It is thus plausible that polymorphisms in the epidermal growth factor receptor gene would be associated with the development of hypertension in women with gestational diabetes.
Aim: To determine whether the …

Mapping A New Disease Resistance Locus In An F1 Progeny Derived From Two Grape Wild Relatives, Gaurab Bhattarai

MSU Graduate Theses

Linkage maps and quantitative trait loci (QTL) analysis have become essential tools for the positional cloning of agronomically important genes and for marker-assisted breeding. In this study, two North American grape species, Vitis rupestris and Vitis riparia, and their 294 F₁ progeny were used to construct parental linkage maps and to perform QTL analysis for downy mildew resistance. Single nucleotide polymorphism (SNP) discovery was accomplished using genotyping-by-sequencing (GBS) and resulted in 348,888 SNPs. Of these, 11,063 informative SNP markers (3.17% of the original SNP dataset) were derived after filtering for various quality parameters and missing data. A two-way …

Characterization Of Genomic Copy Number Variation In Mus Musculus Associated With The Germline Of Inbred And Wild Mouse Populations, Normal Development, And Cancer, Maja Milojevic

Electronic Thesis and Dissertation Repository

Mus musculus is a human commensal species and an important model of human development and disease with a need for approaches to determine the contribution of copy number variants (CNVs) to genetic variation in laboratory and wild mice, and arising with normal mouse development and disease. Here, the Mouse Diversity Genotyping array (MDGA)-approach to CNV detection is developed to characterize CNV differences between laboratory and wild mice, between multiple normal tissues of the same mouse, and between primary mammary gland tumours and metastatic lung tissue.

A CNV detection pipeline was used in conjunction with evaluated probe sets, targeting 925,378 loci …

A Trial Sequential Meta-Analysis Of Tnf-Α –308g>A (Rs800629) Gene Polymorphism And Susceptibility To Colorectal Cancer, Raju K. Mandal, Munawwar Ali Khan, Arif Hussain, Naseem Akhter, Arshad Jawed, Sajad A. Dar, Mohd Wahid, Aditya K. Panda, Mohtashim Lohani, Bhartendu N. Mishra, Shafiul Haque

All Works

© 2019 The Author(s). Purpose: Tumor necrosis factor-α (TNF-α), secreted by the activated macrophages, may participate in the onset and progression of colorectal cancer (CRC). The association of TNF-α –308 G>A (rs1800629) single-nucleotide polymorphism (SNP) with CRC risk has been investigated by many studies but the results are inconclusive. A trial sequential meta-analysis was performed for precise estimation of the relationship between TNF-α –308 G>A gene polymorphism with CRC risk. Methods: Medline (PubMed), EMBASE (Excerpta-Medica) and Google Scholar were mined for relevant articles. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the significance of …

Detection Of Sickle Cell Disease-Associated Single Nucleotide Polymorphism Using A Graphene Field Effect Transistor, Kandace Fung

CMC Senior Theses

Sickle Cell Disease (SCD) is a hereditary monogenic disorder that affects millions of people worldwide and is associated with symptoms such as stroke, lethargy, chronic anemia, and increased mortality. SCD can be quickly detected and diagnosed using a simple blood test as an infant, but as of now, there is currently limited treatment to cure an individual of sickle cell disease. Recently, there have been several promising developments in CRISPR-Cas-associated gene-editing therapeutics; however, there have been limitations in gene-editing efficiency monitoring, which if improved, could be beneficial to advancing CRISPR-based therapy, especially in SCD. The CRISPR-Chip, a three-terminal graphene-based field …

A Parallelized Implementation Of Cut-And-Solve And A Streamlined Mixed-Integer Linear Programming Model For Finding Genetic Patterns Optimally Associated With Complex Diseases, Michael Yip-Hin Chan

Theses

With the advent of genetic sequencing, there was much hope of finding the inherited elements underlying complex diseases, such as late-onset Alzheimer’s disease (AD), but it has been a challenge to fully uncover the necessary information hidden in the data. A likely contributor to this failure is the fact that the pathogenesis of most complex diseases does not involve single markers working alone, but patterns of genetic markers interacting additively or epistatically. But as we move upwards beyond patterns of size two, it quickly becomes computationally infeasible to examine all combinations in the solution space. A common solution to solving …

Application Of Novel And Existing Methods To Identify Genes With Evidence Of Epigenetic Association: Results From Gaw20, Angga M. Fuady, Samantha Lent, Chloé Sarnowski, Nathan L. Tintle

Faculty Work Comprehensive List

Background: The rise in popularity and accessibility of DNA methylation data to evaluate epigenetic associations with disease has led to numerous methodological questions. As part of GAW20, our working group of 8 research groups focused on gene searching methods.

Results: Although the methods were varied, we identified 3 main themes within our group. First, many groups tackled the question of how best to use pedigree information in downstream analyses, finding that (a) the use of kinship matrices is common practice, (b) ascertainment corrections may be necessary, and (c) pedigree information may be useful for identifying parent-of-origin effects. Second, many groups …

A Bioinformatics Analysis Of Contributors To False Discovery For A Mouse Genotyping Array, Nisha Patel

Electronic Thesis and Dissertation Repository

Microarray experiments employing massively-parallel hybridization are valuable for the study of genetic variation, however, errors during hybridization and limitations of single-species design must be considered for use within and across species. The Mouse Diversity Genotyping Array (MDGA) is a low cost, high-resolution microarray with probes that bind to target DNA for variant detection. Errors associated with probe design and incomplete protein removal from target DNA lead to false discovery and thus necessitate examination of probe suitability and target DNA availability. Bioinformatics methods were used to carry out confirmation of probe annotations, assessment of DNA accessibility for hybridization to probes, and …

Final Thesis For Submission.Pdf, Nisha Patel

Nisha Patel

Efficient Reduced Bias Genetic Algorithm For Generic Community Detection Objectives, Aditya Karnam Gururaj Rao

Theses

The problem of community structure identification has been an extensively investigated area for biology, physics, social sciences, and computer science in recent years for studying the properties of networks representing complex relationships. Most traditional methods, such as K-means and hierarchical clustering, are based on the assumption that communities have spherical configurations. Lately, Genetic Algorithms (GA) are being utilized for efficient community detection without imposing sphericity. GAs are machine learning methods which mimic natural selection and scale with the complexity of the network. However, traditional GA approaches employ a representation method that dramatically increases the solution space to be searched by …

Unlocking The Novel Genetic Diversity And Population Structure Of Synthetic Hexaploid Wheat, Madhav Bhatta, Alexey Morgounov, Vikas Belamkar, Jesse Poland, P. Stephen Baenziger

Department of Agronomy and Horticulture: Faculty Publications

Background: Synthetic hexaploid wheat (SHW) is a reconstitution of hexaploid wheat from its progenitors (Triticum turgidum ssp. durum L.; AABB x Aegilops tauschii Coss.; DD) and has novel sources of genetic diversity for broadening the genetic base of elite bread wheat (BW) germplasm (T. aestivum L). Understanding the diversity and population structure of SHWs will facilitate their use in wheat breeding programs. Our objectives were to understand the genetic diversity and population structure of SHWs and compare the genetic diversity of SHWs with elite BW cultivars and demonstrate the potential of SHWs to broaden the genetic base …

Genome-Wide Association Study Reveals Novel Genomic Regions For Grain Yield And Yield-Related Traits In Drought-Stressed Synthetic Hexaploid Wheat, Madhav Bhatta, Alexey Morgounov, Vikas Belamkar, P. Stephen Baenziger

Department of Agronomy and Horticulture: Faculty Publications

Synthetic hexaploid wheat (SHW; 2n = 6x = 42, AABBDD, Triticum aestivum L.) is produced from an interspecific cross between durum wheat (2n = 4x = 28, AABB, T. turgidum L.) and goat grass (2n = 2x = 14, DD, Aegilops tauschii Coss.) and is reported to have significant novel alleles-controlling biotic and abiotic stresses resistance. A genome-wide association study (GWAS) was conducted to unravel these loci [marker–trait associations (MTAs)] using 35,648 genotyping-by-sequencing-derived single nucleotide polymorphisms in 123 SHWs. We identified 90 novel MTAs (45, 11, and 34 on the A, B, and D …

Single Nucleotide Polymorphisms In Efflux Pumps Genes In Extensively Drug Resistant Mycobacterium Tuberculosis Isolates From Pakistan, Akbar Kanji, Rumina Hasan, Asho Ali, Ambreen Zaver, Ying Zhang, Kehkashan Imtiaz, Wanliang Shi, Taane G. Clark, Ruth Mcnerney, Jody Phelan

Department of Pathology and Laboratory Medicine

It is challenging to understand mechanisms of drug resistance in Mycobacterium tuberculosis (MTB) due to the large variability in resistance associated genes. Efflux pump genes contribute to drug resistance and thus add to this complexity. Efflux pump gene protein superfamilies have been characterized by genome analysis of drug resistant strains and through invitro transcriptional studies. However, there is limited information regarding efflux pump genes in extensively drug resistant (XDR) tuberculosis (TB) isolates. Whole genome sequencing (WGS) based analysis of 37 extensively drug resistant (XDR) and five drug sensitive (DS) MTB clinical isolates was performed. Single nucleotide polymorphisms (SNPs) in efflux …

Pathogenicity And Reproduction Of Isolates Of Reniform Nematode, Rotylenchulus Reniformis, From Louisiana On Soybean And Utility Of Single Nucleotide Polymorphisms To Evaluate Genetic Variability, Herath Mudiyanselage Kularathna

LSU Doctoral Dissertations

Experiments were conducted to evaluate soybean, Glycine max (L.) Merr., responses to indigenous isolates of the reniform nematode (Rotylenchulus reniformis) in Louisiana and to understand the genetic variability of these native isolates. Microplot and greenhouse experiments were conducted to evaluate the comparative reproduction and pathogenicity of single egg-mass populations of R. reniformis isolated from West Carroll (WC), Rapides, Tensas and Morehouse (MOR) parishes of Louisiana. Data from full-season microplot trials, displayed significant differences in reproduction and pathogenicity of the nematode with the commercial soybean cultivars REV 56R63, Pioneer P54T94R, and Dyna-Gro 39RY57. Significantly low population density was observed …

Diversity And Genetic Analysis Through Dartseq In Common Bean(Phaseolus Vulgaris L.) Germplasm From Turkey, Seda Nemli̇, Tansel Kaygisiz Aşçioğul, Duygu Ateş, Dursun Eşi̇yok, Muhammed Bahatti̇n Tanyolaç

Turkish Journal of Agriculture and Forestry

The common bean (Phaseolus vulgaris L.) is the most consumed food legume in the world and is a major source of dietary protein, carbohydrates, and valuable micronutrients, especially in developing countries. Diversity Arrays Technology (DArTseq), based on genome reduction with restriction enzymes, provides a rapid, high-throughput, and cost-effective tool capable of generating thousands of genotyped single nucleotide polymorphisms (SNPs) for a genome-wide analysis of genetic diversity. In this study, we aimed to characterize common bean accessions using SNPs detected by a DArTseq approach. A total of 43,018 SNPs were identified from 173 common bean accessions, including Andean and Mesoamerican genotypes. …

Using Mouse Models To Define How The P53 R72p Polymorphism Impacts The Adverse Effects Of Doxorubicin And Ionizing Radiation, Emily Dominguez

Dissertations & Theses (Open Access)

The single nucleotide polymorphism (SNP) at codon 72 of the tumor suppressor gene p53 codes for either an arginine (R) or proline (P) (p53 R72P). This SNP may impact how cells respond to genotoxic insult. Studies in cell culture and in tissues from mouse models of the SNP indicate that, in response to gentoxic treatment, the two variants may differentially induce apoptosis and expression of p53 target genes. In epidemiological studies, the P variant is associated with decreased cancer survival and increased risk of side-effects from genotoxic cancer treatment. Genotoxic therapy is still the mainstay of cancer treatment, and doxorubicin …

Pharmacogenetic Discovery In Calgb (Alliance) 90401 And Mechanistic Validation Of A Vac14 Polymorphism That Increases Risk Of Docetaxel-Induced Neuropathy, Daniel L. Hertz, Kouros Owzar, Sherrie Lessans, Claudia Wing, Chen Jiang, William Kevin Kelly, Jai Patel, Susan Halabi, Yoichi Furukawa, Heather E. Wheeler, Alexander B. Sibley, Cameron Lassiter, Lois Weisman, Dorothy Watson, Stefanie D. Krens, Flora Mulkey, Cynthia L. Renn, Eric J. Small, Phillip G. Febbo, Ivo Shterev, Deanna L. Kroetz, Paula N. Friedman, John F. Mahoney, Michael A. Carducci, Michael J. Kelley, Yusuke Nakamura, Michiaki Kubo, Susan G. Dorsey, M. Eileen Dolan, Michael J. Morris, Howard L. Mcleod

Biology: Faculty Publications and Other Works

Purpose

Discovery of single nucleotide polymorphisms (SNPs) that predict a patient's risk of docetaxel-induced neuropathy would enable treatment individualization to maximize efficacy and avoid unnecessary toxicity. The objectives of this analysis were to discover SNPs associated with docetaxel-induced neuropathy and mechanistically validate these associations in preclinical models of drug-induced neuropathy.

Experimental Design

A genome-wide association study was conducted in metastatic castrate-resistant prostate cancer patients treated with docetaxel, prednisone and randomized to bevacizumab or placebo on CALGB 90401. SNPs were genotyped on the Illumina HumanHap610-Quad platform followed by rigorous quality control. The inference was conducted on the cumulative dose at occurrence …