Genetics Commons^™

Hbb Gene Mutations And Their Impact On Phenotype And Protein Function In Β-Thalassemia Families From Dera Ismail Khan, Pakistan, Muhammad Ayaz, Muhammad Muzammal, Maria Shafiq, Nisar Ahmad, Dua Iman, Maria Faraz, Yaser Uddin Hoti, Sami Siraj, Muzammil Ahmad Khan, Jabbar Khan

Makara Journal of Science

The current genetic study aimed to screen out the genetic basis of ß-thalassemia in five unrelated consanguineous Pakistani families. Blood samples were collected, and targeted Sanger Sequencing of the HBB gene was done. Serum Interleukin-6 (IL-6) and quantitative measurements of T Helper and T Suppressor Lymphocytes were also carried out. Additionally, in silico analysis, including protein modeling, Protein-Protein docking, and Multiple sequence alignment, was also performed. Genetic analysis identified a homozygous mutation c.92+5G > C (IVS-I+5 G > C) in families 1, 2, and 3, which resulted in β⁺/ β⁺ Thalassemia Intermedia phenotype. While in the case of family …

Study Of Primer Efficiency And Relative Genetic Band Abundance In Different Genotypes, Mundher Kh. Jabbar

Karbala International Journal of Modern Science

This experiment was aimed to find some indicators related to primers and genetic variations. Six bread wheat genotypes were selected as the dataset. The RAPD marker technique was used with oligonucleotide primers as marker of study. The goal was to identify factors used for the relationship between primers and their ability to elicit DNA fragments through different genotypes, as well as the relative genetic band abundance among genotypes. After the designed factors, key findings emerged: in relative primer amplification rate, C1 genotype exhibited a higher relative primer amplification rate (RPAR) of fragments from OP-H01 but did not differ from OP-V19 …

Architects Of Mrna Fate: Molecular And Cellular Control Of P-Body Organization In The Drosophilia Melanogaster Female Germline, Samantha Milano

Dissertations, Theses, and Capstone Projects

Processing bodies (P-bodies) are cytoplasmic ribonucleoprotein condensates that regulate mRNA storage, translational repression, and decay. While the biochemical principles governing condensate assembly have been extensively studied in vitro, how P-body organization is established and dynamically regulated in vivo to control specific mRNA populations remains poorly understood. This dissertation investigated the molecular and cellular mechanisms that govern P-body architecture and function in the Drosophila melanogaster female germline. First, I identified the conserved LSm protein Trailer Hitch (Tral) as a central organizer of P-body architecture. Using quantitative confocal and super-resolution microscopy combined with chemical perturbations, I showed that Tral coordinates the …

Effect Of Partial Ablation Of Skeletal Dynamin Related Protein 1 On Mitochondrial Health, Inflammation, And Fibrosis In A Mouse Model Of Duchenne Muscular Dystrophy, Tessa L. Duzz

Graduate Masters Theses

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder characterized by muscle weakness, degeneration, fibrosis, and impaired muscle regeneration. Mitochondrial dysfunction is an early pathological feature of DMD and has been linked to excessive mitochondrial fission. Dynamin-related protein 1 (Drp1) is a central regulator of mitochondrial fission, a key process in regulating mitochondrial quality and function. Inhibition of Drp1-mediated mitochondrial fission has shown promise as a potential therapeutic target for alleviating pathology and dysfunction in dystrophic muscle. The objective of this study was to determine whether partial skeletal muscle-specific ablation of Drp1 could improve muscle pathology and mitochondrial health in …

The Role Of Seed Mix Characteristics And Soil Amendments During Post-Agricultural Prairie Restoration, Valerie N. Thurston, Michaela J. Woods, Madelaine Gregory, Mary C. Lloyd, Ryan W. Mcewan

Biology Faculty Publications

Introduction: Prairie restoration on degraded lands may be influenced by seed mix characteristics, including species richness and legume establishment. Soil amendments may facilitate restoration; however, the practical usefulness of techniques such as applications of whole soil and leaf mulch remains relatively unclear.

Objectives: We assessed whether increasing species richness and legume content in seed mixes enhances prairie restoration success and examined how soil amendments interact with seed mix composition to influence cover, species richness, diversity, and legume establishment.

Methods: We conducted a field experiment on a 12-ha post-agricultural site in Ohio, U.S.A. Twenty 50 × 50 m plots received one …

Transcriptomic Profiling Of The Donkey Endometrium Reveals Dynamic Molecular Transitions Across The Estrous Cycle, Limeng Shi, Shuaishuai Wu, Mingyue Zhao, Wenhao Zhou, Abd Ullah, Muhammmad F. Akhtar, Changfa Wang, Muhammad Z. Khan, Ying Han

The Thai Journal of Veterinary Medicine

The endometrium undergoes extensive cyclical remodeling essential for reproductive success; however, the molecular mechanisms governing these processes in donkeys (Equus asinus) remain poorly characterized. To address this gap, we performed high-throughput RNA sequencing on endometrial tissues collected from Dezhou donkeys (n = 16) at four post-ovulation stages: Day 0 (ovulation), Day 3 (early luteal), Day 7 (mid-luteal), and Day 18 (late luteal/pre-luteolysis). Differential gene expression analysis, Gene Ontology enrichment, and KEGG pathway mapping were conducted to characterize temporal transcriptomic dynamics. We identified 2,474, 6,548, and 1,288 differentially expressed genes in Day 0 versus Day 3, Day 0 versus …

Transcriptional Regulation In The Uterine Luminal Epithelium, Evelyn A. Carrion

Dissertations and Theses (Open Access)

Transcriptional Regulation in the Uterine Luminal Epithelium

Evelyn A. Carrion

Advisor: Richard R. Behringer, PhD

Abstract

The uterus is an organ comprised of multiple tissues that are essential for women’s health and reproduction. The uterus is composed of multiple tissue layers, including the perimetrium, myometrium, and the endometrium. The endometrium is the inner lining of the uterus, and contains the luminal epithelium, glandular epithelium, and stroma. The luminal epithelium is a simple columnar layer of cells that is necessary for embryo implantation. The uterus is derived in part from the embryonic precursor tissue called the Müllerian duct. There are no …

Regulation Of Müllerian Duct Mesenchyme Transcription During Mammalian Sex Differentiation, Haowen Li, Richard R Behringer, Rachel D Mullen

Dissertations and Theses (Open Access)

Sp7/Osterix (Osx) encodes a zinc-finger transcription factor of the Specificity-protein family discovered by Nakashima et al. at the MD Anderson Cancer Center. While primarily recognized for its role in osteogenesis, Osx has also been implicated in mammalian reproductive development, particularly in male sex differentiation, where Müllerian Duct (MD) regression occurs, mediated by anti-Müllerian hormone (AMH) signaling. AMH-induced regression signals are transduced by the mesenchymal tissue surrounding the ductal structure, known as the Müllerian Duct mesenchyme (MDM). It was discovered that AMH signaling is necessary and sufficient for driving Osx expression in MDM. A previous transgenic mouse reporter …

Mutational Analysis Of Domain Functions In The Yeast Decapping Enzyme Dcp2, Jellisa Ewan, Ambro Van Hoof

Dissertations and Theses (Open Access)

In yeast, the major mRNA decay pathway involves deadenylation of the 3’ poly-A tail, followed by decapping of the 5’ m7Gppp cap and subsequent 5’ to 3’ degradation or 3’ to 5’ degradation. This is carried out by Pan2/Pan3 and Ccr4/Not deadenylases, the decapping enzyme Dcp2, and Xrn1 and  RNA exosome exoribonucleases, respectively. The eukaryotic mRNA decapping enzyme complex, Dcp1/Dcp2, is essential in yeast, and deletion of either gene is lethal. However, the deadenylases that act upstream and the 5’ exoribonuclease that act downstream of the decapping step are not, even though they are all highly conserved with no known …

From Genes To Streams: Mitochondrial Approaches To Population Monitoring Of The Santa Ana Sucker Catostomus Santaanae, Mariana Antonio

Electronic Theses, Projects, and Dissertations

This study was developed to use aquatic environmental DNA (eDNA) as a tool to detect the presence of the Santa Ana sucker (Catostomus santaanae), a federally threatened fish species, across the Santa Ana River in Southern California. Environmental DNA is any genetic material that an organism sheds into the environment. We can get an idea of what aquatic species are present when sampling water at a given site. We sequenced the complete mitochondrial genome (mitogenome) of the Santa Ana sucker and designed custom DNA primers to improve eDNA detection accuracy. These primers were selected based on high genetic …

Epigenetic Regulators Mll3 And Mll4 Sustain Hematopoietic Stem Cell Multipotency, Helen Chenwei Wang

Arts & Sciences Graduate Student Theses and Dissertations

Hematopoietic stem cells (HSCs) maintain lifelong blood production by balancing self-renewal and multilineage differentiation. They are sustained by networks of transcription factors and epigenetic regulators that prime lineage-specific programs while simultaneously preventing activation of any one program up until the moment of lineage commitment. Despite extensive study, it remains unclear how these complex transcriptional programs are coordinated and how specific epigenetic regulators are deployed to reinforce specific cell fate decisions. Epigenetic regulators, MLL3 and MLL4, play a central role in pluripotent embryonic stem cell fate transitions, but their functions in multipotent somatic stem cells are less well characterized. MLL3 (also …

Homocysteine Thiolactone From Translation Proofreading Is An Endogenous Ligand For Cell-Cell Signaling By The Receptor Sdia, Lorenzo Eugenio Leiva, Roberto A. Zúñiga, Gregory J. Phillips, Michael Ibba

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Several widespread mechanisms enable cellular communication and coordinate the behavior of bacterial populations. The modules responsible for cellular communication are often found in matching pairs: an enzyme that synthesizes a signal molecule and a specific receptor that decodes it. A notable exception is Escherichia coli SdiA, a homolog of known N-acyl-homoserine lactone (AHL) receptors, for which no corresponding AHL synthase exists. SdiA is an orphan receptor that enables cross-talk by sensing AHLs from other bacterial species. In this work, we investigated whether homocysteine thiolactone (HTL), an AHL-like molecule arising from a proofreading reaction of methionyl tRNA synthetase (MetRS) to correct …

Vertebrate Diversity In Cave Systems Of Colombia: An Approach Based On Environmental Dna Metabarcoding Analysis, Rita Daniela Martinelli Marín, Carlos Andres Lasso, Francesco Sauro, Susana Josefina Caballero

International Journal of Speleology

There is currently limited knowledge of the biological communities inhabiting cave ecosystems in South America. This study examines the vertebrate community composition of 21 caves across diverse subterranean ecosystems in Colombia using environmental DNA (eDNA) analysis. Water was collected from water bodies inside caves and subterranean systems in six of the eight speleological regions of Colombia in eight departments. Water was filtered manually through a 0.8 m pore size filter and preserved with Longmire solution. A 170-base pair (bp) fragment of the 12s mitochondrial gene specific for vertebrate identification was amplified by PCR and sequenced by Illumina (metabarcoding). Data corresponding …

Mobile Genetic Elements Shape Microbial Diversity And Functions In Thawing Permafrost Soils, Jiarong Guo, Samuel T. N. Aroney, Guillermo Domínguez-Huerta, Derek Smith, Dean Vik, Carlos Owusu-Ansah, Akbar Adjie Pratama, Sergei Solonenko, Funing Tian, Cristina Howard-Varona, Zhi-Ping Zhong, Aminata Fofana, Garrett J. Smith, Suzanne B. Hodgkins, Dylan Cronin, Isogenie Field Teams 2010–2017, 2019, Emerge Coordinators, Ben J. Woodcroft, Gene W. Tyson, Virginia I. Rich, Matthew B. Sullivan, Simon Roux, Sarah C. Bagby, Michael Ibba

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Ecosystems are shaped by communities of microorganisms whose niches and impacts depend on functional profiles influenced by gene gains and losses. Culture-based experiments demonstrate that mobile genetic elements (MGEs) can mediate gene flux, but quantitative understanding of these dynamics in natural systems remains limited. Here we develop and apply a systematic, meta-omic framework to investigate MGEs in a complex natural system using an 8-year soil time series collected at Stordalen Mire, in Sweden’s thawing permafrost margin. In this climate-critical peatland, we identify ~2.1 million MGE recombinases across 89 microbial phyla and assess ecological distributions, affected functions, past mobility and current …

Morphometric And Genetic Analyses Of The Sheat Catfish Genus Ompok And Kryptopterus (Siluriidae) From The Mahakam River, East Kalimantan, Indone-Sia, Jusmaldi Jusmaldi, Rudhy Gustiano, Haryono Haryono, Rusdianto Rusdianto, Gema Wahyudewantoro, Syahroma Husni Nasution, Yulianto Yulianto, Muhammad Hunaina Fariduddin Aththar, Safar Dody, Amran Ronny Syam, Irin Iriana Kusmini, Yosmaniar Yosmaniar

Makara Journal of Science

Anthropogenic impacts within the watershed threaten the survival of sheat catfish. Therefore, species of the genera Ompok and Kryptopterus should be conserved and domesticated to ensure their long-term persistence. Moreover, the accurate documentation of the existence and taxonomic validity of Ompok and Kryptopterus species is crucial. Accordingly, this study aims to assess the species diversity of the genera Ompok and Kryptopterus in the Mahakam River, East Kalimantan, Indonesia. The study was conducted between June and December 2014, with an update in August 2024. Fish samples were collected from the upstream and middle reaches of the Mahakam River. A total of …

Advocating For A Care-Based Ethic: Stories Of Pregnancy And Birth From Caregivers Of Children With Down Syndrome, Lydia Ocasio-Stoutenburg, Nayma Sultana Mim

Developmental Disabilities Network Journal

Down syndrome (DS) impacts about 1 in every 640 childbirths in the United States. While quality of life has improved for people with DS, systemic inequities and deficit-based perceptions have persisted throughout history, with material impacts on people with DS and their caregivers. Researchers have documented how caregivers of children with DS have had negative experiences with healthcare providers and genetic counselors, whose biased views about DS translate into subtle and overt pressures. Few studies explicitly focus on the experiences of Caregivers of Color, multilingual families, as well as families with varying economic experiences who have children with DS. This …

Investigating The Role Of Centromere Deletion In Chromosome Segregation, Azait Imtiaz

ETDs from 2020-2029

Centromeres are critical genomic regions responsible for ensuring accurate chromosome segregation during cell division. Disruptions in the structural or functional integrity of centromeric DNA could impair kinetochore assembly, leading to chromosome missegregation and chromosomal instability (CIN), a hallmark of various human diseases, including systemic sclerosis (SSc). This study investigated the contribution of centromeric DNA damage and deletion to CIN and explored potential pathogenic mechanisms relevant to SSc. We utilized hTERT-immortalized fibroblast cell lines (CHON-002 and BJ-5ta) to implement two complementary approaches: (i) treatment with bleomycin, a chemotherapeutic agent known to induce DNA double-strand breaks (DSBs), and (ii) targeted deletion of …

Elucidating The Function Of Yedk In Response To Dna Damage, Hank Munro

University Honors Theses

Apurinic/Apyrimidinic (AP) sites are one of the most prevalent forms of DNA damage. These lesions arise spontaneously or during base excision repair of modified DNA bases and are potentially mutagenic in both mammalian and bacterial cells. 5-hydroxymethylcytosine binding, ES cell specific (HMCES), a protein found in eukaryotic cells, has been shown to form a stable DNA-protein crosslink with AP sites in single stranded DNA and to reduce the number of AP sites occurring either spontaneously or after alkylative DNA damage, resulting in increased genome stability. YedK, the Escherichia coli ortholog of HMCES exhibits some of the same biochemical properties as …

The Evolutionary Response Of HawaiʻI ʻAmakihi (Chlorodrepanis Virens) To The Introduction Of Avian Malaria (Plasmodium Relictum), Gabrielle Atkinson

Doctoral Dissertations

The emergence of novel pathogens can impose intense selective pressures on natural populations, driving rapid evolutionary change or precipitating population collapse. In Hawaiʻi, the introduction of avian malaria (Plasmodium relictum) and its mosquito vector (Culex quinquefasciatus) have caused severe declines and extinctions among native forest birds. Yet some populations of Hawaiʻi ʻamakihi (Chlorodrepanis virens) persist across a broad elevational and disease gradient, providing a powerful natural system for examining the genomic basis of rapid adaptation, the role of gene flow in adaptive response, and the potential for parallel evolutionary responses. This dissertation integrates genomic, population genetic, and transcriptomic approaches to …

Filtered Genome Of Commercial Philippine Varieties Of Sugarcane (Saccharum Officinarum L.) For The Characterization And Identification Of Ssrs Associated With Resistance To Philippine Downy Mildew (Peronosclerospora Philippinensis), Antonio G. Lalusin, Jhun Lawrence S. Rasco

The Philippine Agricultural Scientist

Sugarcane is a major global source of sugar, with total production reaching 1.89 billion t. Although the Philippines produces about 1.85 million t of sugarcane annually, yields are limited by downy mildew and smut. Developing varieties resistant to these pathogens is the most economical and practical approach to mitigating losses from these biotic stresses. In this study, SSRs related to disease resistance were developed through Next-Generation Sequencing (NGS) of the filtered genomes of sugarcane varieties with known phenotypic responses to downy mildew. Two assemblies based on minimum contig lengths (450 and 900 bp) were performed using SoapDeNovo2. The 900-bp assembly …