Open Access. Powered by Scholars. Published by Universities.®

Genetics and Genomics Commons

Open Access. Powered by Scholars. Published by Universities.®

9,133 Full-Text Articles 27,775 Authors 1,733,192 Downloads 288 Institutions

All Articles in Genetics and Genomics

Faceted Search

9,133 full-text articles. Page 4 of 362.

Whole Genome Sequence Data Implicate Rbfox1 In Epilepsy Risk In Baboons, Mark Z. Kos, Melanie A. Carless, Lucy Blondell, Mary M. Leland, Koyle D. Knape, Harald H. H. Goring, Charles A. Szabo 2023 The University of Texas Rio Grande Valley

Whole Genome Sequence Data Implicate Rbfox1 In Epilepsy Risk In Baboons, Mark Z. Kos, Melanie A. Carless, Lucy Blondell, Mary M. Leland, Koyle D. Knape, Harald H. H. Goring, Charles A. Szabo

Research Symposium

Background: Baboons exhibit a genetic generalized epilepsy (GGE) that resembles juvenile myoclonic epilepsy and may represent a suitable genetic model for human epilepsy. The genetic underpinnings of epilepsy were investigated in a baboon colony at the Southwest National Primate Research Center (San Antonio, TX) through the analysis of whole-genome sequence (WGS) data.

Methods: Baboon WGS data were obtained for 38 cases and 19 healthy controls from the NCBI Sequence Read Archive and, after standard QC filtering, two subsets of variants were examined: (1) 20,881 SNPs from baboon homologs of 19 candidate GGE genes; and (2) 36,169 protein-altering SNPs. Association tests …


Antp Transcriptional Activity Is Modulated By The Formation Of The Trimeric Antp-Tbp Complexes With Tfiieβ, Exd And Bip2, Norma C. Hernández Bautista, Gustavo Jiménez Mejía, Claudia Altamirano Torres, Diana Reséndez Pérez 2023 Universidad Autonoma de Nuevo Leon

Antp Transcriptional Activity Is Modulated By The Formation Of The Trimeric Antp-Tbp Complexes With Tfiieβ, Exd And Bip2, Norma C. Hernández Bautista, Gustavo Jiménez Mejía, Claudia Altamirano Torres, Diana Reséndez Pérez

Research Symposium

Homeoproteins are transcriptional factors that bind to DNA through a highly conserved binding domain known as the homeodomain (HD) which recognizes short regions rich in AT to control the development of the body appendages of organisms. However, their structural and recognition similarities make it difficult to explain how homeoproteins are capable of carrying out their function. Previous results have shown that Antp homeoprotein can establish dimeric interactions with TBP, TFIIEβ, Exd, BIP2 and more recently through BiFC-FRET we confirmed that Antp and TBP can form trimeric complexes with TFIIEβ/Exd/BIP2. Therefore, is important to show how these trimeric complexes modulate Antp …


Tata-Box Binding Protein Interacts With Antp, Scr, Ubx And Abdb Through Their N-Terminal Domains, Rubén Montalvo Méndez, Gustavo Jiménez Mejía, Diana Reséndez Pérez 2023 Universidad Autonoma de Nuevo Leon

Tata-Box Binding Protein Interacts With Antp, Scr, Ubx And Abdb Through Their N-Terminal Domains, Rubén Montalvo Méndez, Gustavo Jiménez Mejía, Diana Reséndez Pérez

Research Symposium

Background: Hox proteins are transcriptional factors (TFs) that define segment identity during embryonic development regulating specific target genes. These TFs interact with cofactors for DNA specificity and other TFs to regulate gene expression, which include basal transcriptional machinery members like BIP2, Med19, TFIIEβ, M1BP and TBP. Since TBP glutamine homopeptide (PolyQ) act as an interaction domain involved transcriptional regulation, we analyzed if TBP interact with Antp, Scr, Ubx and AbdB through its PolyQ region.

Methods: We used Bimolecular Fluorescent Complementation (BiFC) to determine TBP interaction with Antp, Scr, Ubx and AbdB as well as the implication of their homeodomain (HD) …


Microrna-34a And Long Non-Coding Rna Malat1 Is Associated With Hpv Status And Viral Load In Premalignant Cervical Lesions, Orlando Solis-Coronado, Juan A. García-Quiñones, Mariel Aracely Oyervides-Muñoz, Victor Treviño, Celia N. Sanchez-Dominguez, Antonio A. Pérez-Maya, Diana Cristina Perez-Ibave, Oscar Vidal-Gutierrez, Juan Francisco González-Guerero, Genaro A. Ramírez-Correa, María Lourdes Garza-Rodríguez 2023 Universidad Autonoma de Nuevo Leon

Microrna-34a And Long Non-Coding Rna Malat1 Is Associated With Hpv Status And Viral Load In Premalignant Cervical Lesions, Orlando Solis-Coronado, Juan A. García-Quiñones, Mariel Aracely Oyervides-Muñoz, Victor Treviño, Celia N. Sanchez-Dominguez, Antonio A. Pérez-Maya, Diana Cristina Perez-Ibave, Oscar Vidal-Gutierrez, Juan Francisco González-Guerero, Genaro A. Ramírez-Correa, María Lourdes Garza-Rodríguez

Research Symposium

Background: Cervical cancer (CC) is one of the most common gynecological malignancies in the world, and human papillomavirus (HPV) infection is the most important risk factor for their development. Although there are methods for the early detection of CC and HPV infection, but there are not highly sensitive and specific, for it´s necessary to investigate alternatives such as miR-34a and MALAT1, implicated in the pathogenesis of CC. The objective was to evaluate the association of HPV status, viral load, the presence of coinfections, and the grade of CC precursor lesions with miR-34a and MALAT1 expression in patients with high …


Determination Of Hfe C282y Mutation And Its Association With The Iron Status And Viral Load In Hiv Patients From Reynosa, Tamaulipas, Juan Carlos Hernández, Marisol Rosas Díaz, Esperanza Milagros García Oropesa, Santos Graciela Montemayor Beltrán, Juana Díaz García, Imelda Ramírez Puente 2023 Unidad Académica Multidisciplinaria Reynosa Aztlán, Universidad Autónoma de Tamaulipas

Determination Of Hfe C282y Mutation And Its Association With The Iron Status And Viral Load In Hiv Patients From Reynosa, Tamaulipas, Juan Carlos Hernández, Marisol Rosas Díaz, Esperanza Milagros García Oropesa, Santos Graciela Montemayor Beltrán, Juana Díaz García, Imelda Ramírez Puente

Research Symposium

Background: The HFE protein has a fundamental role in iron homeostasis, the HFE C282Y mutation prevents the specific function of the protein, causing greater intestinal absorption of iron and intracellular accumulation. The HIV virus causes a disease that attacks the cells of the immune system, mainly CD 4 T lymphocytes inducing their destruction and immunosuppression of the patient. Some viruses have the ability to disrupt cellular metabolic processes during their own replication, such is the case of HIV-1, which is involved in alteration of iron metabolism resulting in an overload of iron.

Methods: An exploratory, descriptive, cross-sectional and prolective study …


Genomic And Transcriptomic Analyses Reveal Polygenic Architecture For Ecologically Important Traits In Aspen (Populus Tremuloides Michx.), Jennifer F. L. Riehl, Christopher T. Cole, Clay J. Marrow, Hilary L. Barker, Carolina Bernhardsson, Kennedy Rubert-Nason, Pär K. Ingvarsson, Richard L. Lindroth 2023 University of Wisconsin - Madison

Genomic And Transcriptomic Analyses Reveal Polygenic Architecture For Ecologically Important Traits In Aspen (Populus Tremuloides Michx.), Jennifer F. L. Riehl, Christopher T. Cole, Clay J. Marrow, Hilary L. Barker, Carolina Bernhardsson, Kennedy Rubert-Nason, Pär K. Ingvarsson, Richard L. Lindroth

Aspen Bibliography

Intraspecific genetic variations in foundation species such as aspen (Populus tremuloides Michx.) shapes their impact on forest structure and function. Identifying genes underlying ecologically important traits is key to understanding that impact. Previous studies, using single-locus genome-wide association (GWA) analyses to identify candidate genes, have identified fewer genes than anticipated for highly heritable quantitative traits. Mounting evidence suggests that polygenic control of quantitative traits is largely responsible for this "missing heritability" phenomenon. Our research characterized the genetic architecture of 30 ecologically important traits using a common garden of aspect through genomic and transcriptomic analyses. A multilocus association model revealed …


Modeling Nonsegmented Negative-Strand Rna Virus (Nnsv) Transcription With Ejective Polymerase Collisions And Biased Diffusion, Felipe-Andres Piedra 2023 Baylor College of Medicine

Modeling Nonsegmented Negative-Strand Rna Virus (Nnsv) Transcription With Ejective Polymerase Collisions And Biased Diffusion, Felipe-Andres Piedra

Research Symposium

Background: The textbook model of NNSV transcription predicts a gene expression gradient. However, multiple studies show non-gradient gene expression patterns or data inconsistent with a simple gradient. Regarding the latter, several studies show a dramatic decrease in gene expression over the last two genes of the respiratory syncytial virus (RSV) genome (a highly studied NNSV). The textbook model cannot explain these phenomena.

Methods: Computational models of RSV and vesicular stomatitis virus (VSV – another highly studied NNSV) transcription were written in the Python programming language using the Scientific Python Development Environment. The model code is freely available on GitHub: …


Challenges In Genetic Counseling In Hereditary Cancer Syndromes In A Mexican Oncologic Center, Diana Cristina Perez-Ibave, Diana Cristina de Lourdes Perez Ibave, María Fernanda Noriega-Iriondo, Omar Alejandro Zayas-Villanueva, Fernando Alcorta-Nuñez, Juan Francisco González-Guerrero, Adelina Alcorta-Garza, David Hernandez-Barajas, Oscar Vidal-Gutierrez, Carlos Horacio Burciaga-Flores 2023 Universidad Autonoma de Nuevo León

Challenges In Genetic Counseling In Hereditary Cancer Syndromes In A Mexican Oncologic Center, Diana Cristina Perez-Ibave, Diana Cristina De Lourdes Perez Ibave, María Fernanda Noriega-Iriondo, Omar Alejandro Zayas-Villanueva, Fernando Alcorta-Nuñez, Juan Francisco González-Guerrero, Adelina Alcorta-Garza, David Hernandez-Barajas, Oscar Vidal-Gutierrez, Carlos Horacio Burciaga-Flores

Research Symposium

Background: In Mexico, hereditary cancer is underdiagnosed, medical geneticists give genetic counseling, but the access is limited due to the socio-economic characteristics of the population. The CUCC (Centro Universitario Contra el Cáncer) Early Cancer Detection Clinic (CECIL) created a model in which patients without cancer are enrolled in a prevention cancer screening program.

Methods: From 2016 to 2021, 3014 patients were enrolled in the prevention program. Patients were evaluated with a hereditary cancer risk survey before a consultation. Those with at least one familial hereditary risk positive answer were assessed in a consultation. We also included patients with cancer diagnoses …


Rna World And The Development Of Rna Protocells, Benjamin C. Mayfield 2023 University of North Florida

Rna World And The Development Of Rna Protocells, Benjamin C. Mayfield

PANDION: The Osprey Journal of Research and Ideas

Origins of life research, also known as pre-biotic chemistry or astrobiology, aims to unravel the mystery of the first cell’s origin on Earth. This interdisciplinary field encompasses biology, chemistry, and physics, with the primary goal of understanding the conditions necessary for life to emerge from abiotic environments. The RNA world hypothesis suggests that early life initially used RNA instead of DNA to store genomic information and for enzymatic functions. Protocells, membrane-bound entities with metabolic processes and self-replication capabilities, likely preceded the emergence of true cells. The challenges associated with RNA world is currently an active field of research. Advancements in …


Prevalência Do Genótipo De Risco G1/G2 Do Gene Da Apolipoproteína L1 (Apol1) E Associação Com Doença Renal Crônica Não Diabética Em Autodeclarados Negros No Sul Do Brasil, Celia mariana Souza, Maicon Douglas Torely, Mauro Ribeiro Soares Junior, Wiliam Cardoso Silva, Bibiana Sampaio Oliveira Fam, Giovanna Giudicelli, Thayne Kwalski, Marilea Feira Furtado, Renan Barbosa Lemes, Lygia Veiga Pereira, Tábita Hunemeier, Francisco Verissimo Veronese, Fernanda Sales Luiz Vianna 2023 Hospital de Clinicas de Porto Alegre

Prevalência Do Genótipo De Risco G1/G2 Do Gene Da Apolipoproteína L1 (Apol1) E Associação Com Doença Renal Crônica Não Diabética Em Autodeclarados Negros No Sul Do Brasil, Celia Mariana Souza, Maicon Douglas Torely, Mauro Ribeiro Soares Junior, Wiliam Cardoso Silva, Bibiana Sampaio Oliveira Fam, Giovanna Giudicelli, Thayne Kwalski, Marilea Feira Furtado, Renan Barbosa Lemes, Lygia Veiga Pereira, Tábita Hunemeier, Francisco Verissimo Veronese, Fernanda Sales Luiz Vianna

AMNET XX Conferencia Internacional

Introdução: A doença renal crônica (DRC) possui uma prevalência de 10% entre os brasileiros. A presença de dois alelos de risco chamados G1 e G2 do gene da Apo lipoproteína L1 ( APOL1 ), mais frequente em indivíduos associados de ascendência africana e foram à DRC.

Objetivos: Determinar a prevalência dos alelos e genótipo de APOL1 em pacientes portadores de DRC em comparação com indivíduos afrodescendentes saudáveis.

Métodos: Estudo caso controle, realizado nos ambulatórios de Nefrologia do hospital de Clínicas de Porto Alegre, na Santa Casa de Misericórdia de Porto Alegre; Clínicas de hemodiálise Grande Porto Alegre Litoral e Cidades …


Broken Tails In Holstein Dairy Cattle: A Cross-Sectional Study, Hannah E. Olsen, Karly N. Anderson, Katherine C. Creutzinger, Kurt D. Vogel 2023 University of Wisconsin–River Falls

Broken Tails In Holstein Dairy Cattle: A Cross-Sectional Study, Hannah E. Olsen, Karly N. Anderson, Katherine C. Creutzinger, Kurt D. Vogel

Department of Animal Science: Faculty Publications

Dairy cows are regularly handled when moved to the milking parlor and during other routine procedures. Low-stress handling methods are important in avoiding negative welfare states for dairy cattle. Tail twisting is used by some handlers to prompt cattle movement. However, when used inappropriately with excessive force, tail twisting can lead to a broken tail. The aim of this cross-sectional study was to determine cow-level factors that may be associated with the prevalence of broken tails in dairy cattle. A subset of 229 Holstein dairy cows (68 primiparous and 161 multiparous) at a single dairy were assessed for broken tails …


The Use Of Prognostic Markers To Predict Disease Progression And Clinical Outcome In Monoclonal Gammopathy Of Undetermined Significance, Smouldering Multiple Myeloma And Multiple Myeloma., Róisín C. McMonagle 2023 Cork Institute of Technology

The Use Of Prognostic Markers To Predict Disease Progression And Clinical Outcome In Monoclonal Gammopathy Of Undetermined Significance, Smouldering Multiple Myeloma And Multiple Myeloma., Róisín C. Mcmonagle

International Undergraduate Journal of Health Sciences

Multiple Myeloma (MM) is an incurable plasma cell malignancy with a complex and incompletely understood molecular pathogenesis. Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smouldering Multiple Myeloma (SMM) precede MM, with variable risks and rates of disease progression. The continuing high relapse and death rate in MM cases has prompted research into more accurate prognostic markers to predict progression from MGUS and SMM to MM, as well as identify MM cases with aggressive disease, in order to begin early, targeted and effective therapeutic intervention. Many studies have focused on utilising current markers more effectively, including M-protein, serum-free light chain ratio, …


Appendage Abnormalities In Spiders Induced By An Alternating Temperature Protocol In The Context Of Recent Advances In Molecular Spider Embryology, Teresa Napiorkowska, Julita Templin, Pawel Napiorkowski, Mark A. Townley 2023 Nicolaus Copernicus University of Torun

Appendage Abnormalities In Spiders Induced By An Alternating Temperature Protocol In The Context Of Recent Advances In Molecular Spider Embryology, Teresa Napiorkowska, Julita Templin, Pawel Napiorkowski, Mark A. Townley

Faculty Publications

In the literature there are numerous reports of developmental deformities in arthropods collected in their natural habitat. Since such teratogenically affected individuals are found purely by chance, the causes of their defects are unknown. Numerous potential physical, mechanical, chemical, and biological teratogens have been considered and tested in the laboratory. Thermal shocks, frequently used in teratological research on the spider Eratigena atrica, have led to deformities on both the prosoma and the opisthosoma. In the 2020/2021 breeding season, by applying alternating temperatures (14 °C and 32 °C, changed every 12 h) for the first 10 days of embryonic development, …


Transcriptional Pausing Factor M1bp Regulates Cellular Homeostasis By Suppressing Autophagy And Apoptosis In Drosophila Eye, Anuradha Venkatakrishnan Chimata, Hannah Darnell, Akanksha Raj, Madhuri Kango-Singh 2023 University of Dayton

Transcriptional Pausing Factor M1bp Regulates Cellular Homeostasis By Suppressing Autophagy And Apoptosis In Drosophila Eye, Anuradha Venkatakrishnan Chimata, Hannah Darnell, Akanksha Raj, Madhuri Kango-Singh

Biology Faculty Publications

During organogenesis cellular homeostasis plays a crucial role in patterning and growth. The role of promoter proximal pausing of RNA polymerase II, which regulates transcription of several developmental genes by GAGA factor or Motif 1 Binding Protein (M1BP), has not been fully understood in cellular homeostasis. Earlier, we reported that M1BP, a functional homolog of ZKSCAN3, regulates wingless (wg) and caspase-dependent cell death (apoptosis) in the Drosophila eye. Further, blocking apoptosis does not fully rescue the M1BPRNAi phenotype of reduced eye. Therefore, we looked for other possible mechanism(s). In a forward genetic screen, members of the Jun-amino-terminal-(NH2)-Kinase (JNK) pathway …


An Implementation Of The Method Of Moments On Chemical Systems With Constant And Time-Dependent Rates, Emmanuel O. Adara, Roger B. Sidje 2023 University of Alabama, Tuscaloosa

An Implementation Of The Method Of Moments On Chemical Systems With Constant And Time-Dependent Rates, Emmanuel O. Adara, Roger B. Sidje

Northeast Journal of Complex Systems (NEJCS)

Among numerical techniques used to facilitate the analysis of biochemical reactions, we can use the method of moments to directly approximate statistics such as the mean numbers of molecules. The method is computationally viable in time and memory, compared to solving the chemical master equation (CME) which is notoriously expensive. In this study, we apply the method of moments to a chemical system with a constant rate representing a vascular endothelial growth factor (VEGF) model, as well as another system with time-dependent propensities representing the susceptible, infected, and recovered (SIR) model with periodic contact rate. We assess the accuracy of …


Characterization Of Pathological Tau Mutants, Charles J. McDonald 2023 The Graduate Center, City University of New York

Characterization Of Pathological Tau Mutants, Charles J. Mcdonald

Dissertations, Theses, and Capstone Projects

Tau is a protein expressed exclusively in glia and neurons in the central nervous system and implicated in several neurogenerative diseases called “tauopathies”. Among all the tauopathies, one third is characterized by the presence of genetic mutations leading to the synthesis of tau proteins with single amino acid substitutions at specific locations and affecting protein function. While most of the initial studies have emphasize the functional role of tau as modulator of the axonal cytoskeleton, it has recently been well accepted that tau is also an intrinsically disordered protein that tends to form membraneless organelles called coacervates, due to a …


Molecular Mimicry Of Noda Genes By An N-Acetylmuramoyl-L-Alanine Amidases Gene In A Nodule Forming Staphylococcus Cohnii [Research Note], Aberathne Herath Mudiyanselage Nadeeshani Ruwandika Aberathne, Wedage Methsala Madurangi Wedage, Dilantha Gunawardana 2023 Department of Botany, University of Sri Jayewardenepura, Sri Lanka

Molecular Mimicry Of Noda Genes By An N-Acetylmuramoyl-L-Alanine Amidases Gene In A Nodule Forming Staphylococcus Cohnii [Research Note], Aberathne Herath Mudiyanselage Nadeeshani Ruwandika Aberathne, Wedage Methsala Madurangi Wedage, Dilantha Gunawardana

The Philippine Agricultural Scientist

A rare, nodule-forming, Gram-positive bacterium (Sub4) was isolated from the forage and cover crop Pueraria phaseoloides, which aligned at 99.26% sequence identity to a partial 16S rDNA sequence of Staphylococcus cohnii sp. This was the first record of a strain/species of Staphylococcus capable of independent, unassisted nodule formation in a legume host. When a nodA gene was sought by PCR using a pair of gene-specific primers synthesized using a related (Firmicutes) Paenibacillus sp. nodA gene, the reaction yielded a PCR product of similar size but a distinct identity. The resulting ~400bp PCR product coded for a likely N-acetylmuramoyl-L-alanine amidase …


Population Genomics, Ecology And Conservation Of Asterias Sea Stars In The North Atlantic, Melenia I. Giakoumis 2023 The Graduate Center, City University of New York

Population Genomics, Ecology And Conservation Of Asterias Sea Stars In The North Atlantic, Melenia I. Giakoumis

Dissertations, Theses, and Capstone Projects

Uncovering how species respond to environmental change is a central question in biology (Ehrlén & Morris 2015; Habibullah et al. 2022). It is the key to elucidating the past, understanding the present and predicting the future of species’ population dynamics. This dissertation investigates the influence of environmental change on intertidal species’ distributions and genomics at several timescales, with implications for conservation.

Environmental changes have occurred throughout history, on a geological scale, and have shaped the global patterns of species’ distributions and population sizes. Biologists have long studied how geological history has shaped species distributions (Sanmartín 2012) in both terrestrial (Liu …


Bison Alter The Northern Yellowstone Ecosystem By Breaking Aspen Saplings, Luke E. Painter, Robert L. Beschta, William J. Ripple 2023 Oregon State University

Bison Alter The Northern Yellowstone Ecosystem By Breaking Aspen Saplings, Luke E. Painter, Robert L. Beschta, William J. Ripple

Aspen Bibliography

The American bison (Bison bison) is a species that strongly interacts with its environment, yet the effects of this large herbivore on quaking aspen (Populus tremuloides) have received little study. We documented bison breaking the stems of aspen saplings (young aspen > 2 m tall and ≤ 5 cm in diameter at breast height) and examined the extent of this effect in northern Yellowstone National Park (YNP). Low densities of Rocky Mountain elk (Cervus canadensis) after about 2004 created conditions conducive for new aspen recruitment in YNP's northern ungulate winter range (northern range). We sampled …


Anterior Chamber Depth In Mice Is Controlled By Several Quantitative Trait Loci, Demelza R. Larson, Allysa J. Kimber, Kacie J. Meyer, Michael G. Anderson 2023 College of Saint Benedict/Saint John's University

Anterior Chamber Depth In Mice Is Controlled By Several Quantitative Trait Loci, Demelza R. Larson, Allysa J. Kimber, Kacie J. Meyer, Michael G. Anderson

Biology Faculty Publications

Anterior chamber depth (ACD) is a quantitative trait associated with primary angle closure glaucoma (PACG). Although ACD is highly heritable, known genetic variations explain a small fraction of the phenotypic variability. The purpose of this study was to identify additional ACD-influencing loci using strains of mice. Cohorts of 86 N2 and 111 F2 mice were generated from crosses between recombinant inbred BXD24/TyJ and wild-derived CAST/EiJ mice. Using anterior chamber optical coherence tomography, mice were phenotyped at 10–12 weeks of age, genotyped based on 93 genome-wide SNPs, and subjected to quantitative trait locus (QTL) analysis. In an analysis of ACD among …


Digital Commons powered by bepress