Digital Commons Network^™

Allele-Specific Rna Interference Prevents Neuropathy In Charcot-Marie-Tooth Disease Type 2d Mouse Models., Kathryn H Morelli, Laurie B Griffin, Nettie K Pyne, Lindsay M Wallace, Allison M Fowler, Stephanie N Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Dattatreya Mellacheruvu, Jacob O Kitzman, Samuel G Kocen, Timothy J Hines, Emily L Spaulding, James R Lupski, Alexey Nesvizhskii, Pedro Mancias, Ian J Butler, Xiang-Lei Yang, Ya-Ming Hou, Anthony Antonellis, Scott Q Harper, Robert W Burgess

Department of Biochemistry and Molecular Biology Faculty Papers

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases - where treatment may require reduction in the expression of a toxic mutant protein resulting from a gain-of-function allele - is unclear. Here we show the efficacy of allele-specific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant mutations in glycyl-tRNA synthetase (GARS). A de novo mutation in GARS was identified in a patient with a severe peripheral neuropathy, and a mouse model precisely recreating the mutation …

Are Specific Learning Disorders Truly Specific, And Are They Disorders?, Lien Peters, Daniel Ansari

Brain and Mind Institute Researchers' Publications

© 2019 The Authors Specific learning disorders, such as dyslexia and dyscalculia, are frequently studied to inform our understanding of cognitive development, genetic mechanisms and brain function. In this Opinion Paper, we discuss limitations of this research approach, including the use of arbitrary criteria to select groups of children, heterogeneity within groups and overlap between domains of learning. By drawing on evidence from cognitive science, neuroscience and genetics, we propose an alternative, dimensional framework. We argue that we need to overcome the problems associated with a categorical approach by taking into account interacting factors at multiple levels of analysis that …

Comparative Genomics Study Reveals Red Sea Bacillus With Characteristics Associated With Potential Microbial Cell Factories (Mcfs), G. Othoum, S. Prigent, A. Derouiche, L. Shi, A. Bokhari, S. Alamoudi, S. Bougouffa, X. Gao, R. Hoehndorf, S. T. Arold, T. Gojobori, H. Hirt, F. F. Lafi, J. Nielsen, V. B. Bajic, I. Mijakovic, M. Essack

All Works

© 2019, The Author(s). Recent advancements in the use of microbial cells for scalable production of industrial enzymes encourage exploring new environments for efficient microbial cell factories (MCFs). Here, through a comparison study, ten newly sequenced Bacillus species, isolated from the Rabigh Harbor Lagoon on the Red Sea shoreline, were evaluated for their potential use as MCFs. Phylogenetic analysis of 40 representative genomes with phylogenetic relevance, including the ten Red Sea species, showed that the Red Sea species come from several colonization events and are not the result of a single colonization followed by speciation. Moreover, clustering reactions in reconstruct …

Incense Burning Is Associated With Human Oral Microbiota Composition, Yvonne Vallès, Claire K. Inman, Brandilyn A. Peters, Laila Abdel Wareth, Abdishakur Abdulle, Habiba Alsafar, Fatme Al Anouti, Ayesha Al Dhaheri, Divya Galani, Muna Haji, Aisha Al Hamiz, Ayesha Al Hosani, Mohammed Al Houqani, Abdulla Aljunaibi, Marina Kazim, Tomas Kirchhoff, Wael Al Mahmeed, Fatma Al Maskari, Abdullah Alnaeemi, Naima Oumeziane, Ravichandran Ramasamy, Ann Marie Schmidt, Henri Vallès, Eiman Al Zaabi, Scott Sherman, Raghib Ali, Jiyoung Ahn, Richard B. Hayes

All Works

© 2019, The Author(s). Incense burning is common worldwide and produces environmental toxicants that may influence health; however, biologic effects have been little studied. In 303 Emirati adults, we tested the hypothesis that incense use is linked to compositional changes in the oral microbiota that can be potentially significant for health. The oral microbiota was assessed by amplification of the bacterial 16S rRNA gene from mouthwash samples. Frequency of incense use was ascertained through a questionnaire and examined in relation to overall oral microbiota composition (PERMANOVA analysis), and to specific taxon abundances, by negative binomial generalized linear models. We found …

Prognostication Of Uveal Melanoma Is Simple And Highly Predictive Using The Cancer Genome Atlas (Tcga) Classification: A Review., Carol L. Shields, Lauren A. Dalvin, Pornpattana Vichitvejpaisal, Mehdi Mazloumi, Arupa Ganguly, Jerry A. Shields

Wills Eye Hospital Papers

Purpose: The cancer genome atlas (TCGA) is a comprehensive project supported by the National Cancer Institute (NCI) in the United States to explore molecular alterations in cancer, including uveal melanoma (UM). This led to TCGA classification for UM. In this report, we review the American Joint Committee on Cancer (AJCC) classification and TCGA classification for UM from the NCI's Center for Cancer Genomics (NCI CCG) (based on enucleation specimens [n = 80 eyes]) and from Wills Eye Hospital (WEH) (based on fine needle aspiration biopsy [FNAB] specimens [n = 658 eyes]). We then compare accuracy and predictability of AJCC versus …

Frontiers In Precision Medicine Iv: Artificial Intelligence, Assembling Large Cohorts, And The Population Data Revolution, Adam Bress, Rich Albrechtsen, Monika Baker, Jorge L. Contreras, Zachary Fica, Austin Gamblin, Chelsea Ratcliff, Bianca E. Rich, Matt A. Szaniawski, Alyssa Thorman, Chad Vansant-Webb, Willard Dere

Utah Law Faculty Scholarship

Large cohort studies and more recently electronic medical records (EMR) are being used to collect massive amounts of genetic information. Implementation of artificial intelligence has become increasingly necessary to interpret this data with the goal of augmenting patient care. While it is impossible to predict what the future holds, policy makers are challenged to create guiding principles and responsibly roll out these new technologies. On March 22, 2019, the University of Utah hosted its fourth annual Precision Medicine Symposium focusing on artificial intelligence, assembling large cohorts, and the population data revolution. The symposium brought together experts in medicine, science, law …

Estimating The Heritability Of Experiencing Child Maltreatment In An Extended Family Design, Katharina Pittner, Marian J. Bakermans-Kranenburg, Lenneke R. A. Alink, Renate S. M. Buisman, Lisa J. M. Van Den Bergo, Laura H. C. G. C. Compier-De Block, Alexandra Voorthuis, Bernet M. Elzinga, Jolanda Lindenberg, Marieke S. Tollenaar, Marielle Linting, Vincent P. Diego, Marinus H. Van Ijzendoorn

School of Medicine Publications and Presentations

Child-driven genetic factors can contribute to negative parenting and may increase the risk of being maltreated. Experiencing childhood maltreatment may be partly heritable, but results of twin studies are mixed. In the current study, we used a cross-sectional extended family design to estimate genetic and environmental effects on experiencing child maltreatment. The sample consisted of 395 individuals (225 women; M _age = 38.85 years, range_age = 7–88 years) from 63 families with two or three participating generations. Participants were oversampled for experienced maltreatment. Self-reported experienced child maltreatment was measured using a questionnaire assessing physical and emotional abuse, and physical …

Meeting Overview: Interferon Lambda - Disease Impact And Therapeutic Potential, Thomas R. O'Brien, Howard A. Young, Raymond P. Donnelly, Ludmila Prokunina-Olsson

Public Health Resources

A meeting entitled, "Interferon Lambda: Disease Impact and Translational Potential," was held on the campus of the National Institutes of Health in Bethesda, Maryland, on October 25-26, 2018. To our knowledge, this was the first meeting that focused exclusively on interferon lambda (IFN-λ). The meeting's purpose was to enhance interdisciplinary communication and promote new collaborations. The gathering brought together an international group of scientists from a wide range of disciplines. Sessions included: IFN-λ Biology, Therapy and Genetic Variation; IFN-λ and Hepatitis C Virus Infection; IFN-λ in Other Infections; and IFN-λ - Hepatic Fibrosis and Cancer. The next meeting on IFN-λ …

The Genetics Of Olfactory And Visually Guided Attractive Behaviors In Aedes Aegypti Mosquito, Joshua Ibukun Raji

FIU Electronic Theses and Dissertations

Mosquitoes detect their hosts and seek suitable resources crucial for survival by integrating chemosensory, thermal, and visual cues. The diversity of the cues involved in mosquito attractive behaviors has made the design of behavioral control strategies a challenge. The genetic basis of mosquito attractive behaviors can now be determined using genome editing. The contribution of the IR8a chemosensory pathway was uncovered by disrupting the IR8a co- receptor in Aedes aegypti using CRISPR/Cas9. Ir8a mutant female mosquitoes are not attracted to lactic acid, a behaviorally active component of human sweat, and lack odor-evoked responses to acidic volatiles. The loss of Ir8a …

Scientometric Analysis Of The Research Output Of Biochemistry, Genetics And Molecular Biology Of Gujarat University, Ahmedabad, Jignesh Amin, Yogesh R. Parekh

Library Philosophy and Practice (e-journal)

This paper presents a scientometric analysis of research output of biochemistry, genetics and molecular biology from the Gujarat University, Ahmedabad. The research article was published during 1980-2018. However, the data was collected and indexed in Scopus were considered for the analysis included a total of 400 publications. Various scientometric indicators have been calculated to acquire an appropriate perception of the growth and current status of research output of Gujarat University, Ahmedabad. The paper also analysed the publication trend of Gujarat University. The other aspects that were identified in the paper were the most prolific authors, collaborative authorship patterns and trends, …

9th Annual Postdoctoral Science Symposium, University Of Texas Md Anderson Cancer Center Postdoctoral Association

Annual Postdoctoral Science Symposium Abstracts

The mission of the Annual Postdoctoral Science Symposium (APSS) is to provide a platform for talented postdoctoral fellows throughout the Texas Medical Center to present their work to a wider audience. The MD Anderson Postdoctoral Association convened its inaugural Annual Postdoctoral Science Symposium (APSS) on August 4, 2011.

The APSS provides a professional venue for postdoctoral scientists to develop, clarify, and refine their research as a result of formal reviews and critiques of faculty and other postdoctoral scientists. Additionally, attendees discuss current research on a broad range of subjects while promoting academic interactions and enrichment and developing new collaborations.

Association Of Crebrf Variants With Obesity And Diabetes In Pacific Islanders From Guam And Saipan, Robert L. Hanson, Saied Safabakhsh, Jeffrey M. Curtis, Wen-Chi Hsueh, Lois I. Jones, Tanisha F. Aflague, Jenny Duenas Sarmiento, Satish Kumar, Nicholas B. Blackburn, Joanne E. Curran

School of Medicine Publications and Presentations

Aims hypothesis

Variants in CREBRF (rs12513649 and rs373863828) have been strongly associated with increased BMI and decreased risk of type 2 diabetes in Polynesian populations; the A allele at rs373863828 is common in Polynesians but rare in most other global populations. The aim of the present study was to assess the association of CREBRF variants with obesity and diabetes in Pacific Islander (largely Marianas and Micronesian) populations from Guam and Saipan.

Methods

CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD). Associations were analysed …

Rare Degs1 Variant Significantly Alters De Novo Ceramide Synthesis Pathway, Nicholas B. Blackburn, Laura F. Michael, Peter J. Meikle, Juan M. Peralta, Marian Mosior, Scott Mcahren, Hai H. Bui, Melissa A. Bellinger, Corey Giles, Satish Kumar, Ana C. Leandro, Marcio Almeida, Jacquelyn M. Weir, Michael C. Mahaney, Thomas D. Dyer, Laura Almasy, John L. Vandeberg, Sarah Williams-Blangero, David C. Glahn, Ravindranath Duggirala, Mark Kowala, John Blangero, Joanne E. Curran

School of Medicine Publications and Presentations

The de novo ceramide synthesis pathway is essential to human biology and health but genetic influences remain unexplored. The core function of this pathway is the generation of biologically active ceramide from its precursor, dihydroceramide. Dihydroceramides have diverse, often protective, biological roles; conversely, increased ceramide levels are biomarkers of complex disease. To explore the genetics of the ceramide synthesis pathway, we searched for deleterious nonsynonymous variants in the genomes of 1,020 Mexican Americans from extended pedigrees. We identified a Hispanic ancestry−specific rare functional variant, L175Q, in DEGS1, a key enzyme in the pathway that converts dihydroceramide to ceramide. This amino …

Validity Evaluation Of The Genetics And Genomics In Nursing Practice Survey, Alexandra Plavskin, William E. Samuels, Kathleen A. Calzone

Publications and Research

Aim: To psychometrically test the Genetics and Genomics Nursing Practice Survey (GGNPS) for evidence of content, face and construct validity.

Design:This study was a secondary data analysis.

Method: Data collected from the Method for Introducing a New Competency into Nursing Practice (MINC) study were used to evaluate the GGNPS for evidence of construct validity via structural equation modelling and confirmatory factor analysis. Face validity was evaluated via feedback from practicing RNs without specific experience with or knowledge of genetics/genomics. Content validity was evaluated via content expert feedback and assessment of a content validity index.

Results: The thresholds …

Family-Based Analyses Reveal Novel Genetic Overlap Between Cytokine Interleukin-8 And Risk For Suicide Attempt, Emma M. Knowles, Joanne E. Curran, Harald H. H. Goring, Samuel R. Mathias, Josephine Mollon, Amanda L. Rodrigue, Rene L. Olvera, Ana C. Leandro, Ravi Duggirala, Laura Almasy, John Blangero, David C. Glahn

School of Medicine Publications and Presentations

Background: Suicide is major public health concern. It is imperative to find robust biomarkers so that at-risk individuals can be identified in a timely and reliable manner. Previous work suggests mechanistic links between increased cytokines and risk for suicide, but questions remain regarding the etiology of this association, as well as the roles of sex and BMI.

Methods: Analyses were conducted using a randomly-ascertained extended-pedigree sample of 1882 Mexican-American individuals (60% female, mean age = 42.04, range = 18-97). Genetic correlations were calculated using a variance components approach between the cytokines TNF-α, IL-6 and IL-8, and Lifetime Suicide Attempt and …

Genetically Distinct Behavioral Modules Underlie Natural Variation In Thermal Performance Curves, Gregory W. Stegeman, Scott E. Baird, William S. Ryu, Asher D. Cutter

Biological Sciences Faculty Publications

Thermal reaction norms pervade organismal traits as stereotyped responses to temperature, a fundamental environmental input into sensory and physiological systems. Locomotory behavior represents an especially plastic read-out of animal response, with its dynamic dependence on environmental stimuli presenting a challenge for analysis and for understanding the genomic architecture of heritable variation. Here we characterize behavioral reaction norms as thermal performance curves for the nematode Caenorhabditis briggsae, using a collection of 23 wild isolate genotypes and 153 recombinant inbred lines to quantify the extent of genetic and plastic variation in locomotory behavior to temperature changes. By reducing the dimensionality of the …

A Novel Mutation In The Choroideremia Gene In A Turkish Family., Mustafa Iftikhar, Yulia Wolfson, Simrat Sodhi, Bushra Usmani, Hendrik P. N. Scholl, Syed M.A. Shah

Medical College Documents

Choroideremia is an X-linked recessive genetic disorder caused by mutations in the CHM gene. It is a rare retinal dystrophy that manifests as nyctalopia and vision loss, progressing to blindness in later stages. We report a 21-year Turkish man who presented with nyctalopia for the past 4-5 years. His mother and maternal grandmother had similar, but less pronounced complaints. Fundus examination revealed pigmentary changes and retinal atrophy in both eyes. Optical coherence tomography showed outer retinal loss, with central island of preserved autofluorescence surrounded by absent autofluorescence on fundus autofluorescence examination. Goldmann visual fields were constricted. Microperimetry detected retinal sensitivity …

Adolescent Obesity In The Past Decade: A Systematic Review Of Genetics And Determinants Of Food Choice, Eleanor T. Campbell, Alexis T. Franks, Paule V. Joseph

Publications and Research

Background and purpose: As the incidence of global obesity increases, concerns about adverse health outcomes in adolescents continues to rise. The complexity and expense of this problem require early recognition and specific preventive treatments. Knowledge of genetics and determinants of food choices contributing to adolescent obesity warrants further examination. The primary goal was to appraise the literature from the past decade (2007–2017) on the current state of food choice and genetic determinants of adolescent overweight/obesity in the United States. The secondary goal was to determine trends in the literature and areas for future research.

Methods: A systematic review of research …

Gigantic Stomach: A Rare Manifestation Of Duchenne Muscular Dystrophy, Amaninder Dhaliwal, Sarvani Madiraju, Banreet S. Dhindsa, Getaw W. Hassen, Fedja A. Rochling

School of Medicine Faculty Publications

Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of life and are mainly due to atrophy of smooth muscle layers. Refractory gastroparesis and chronic constipation can lead to severe gastric and small bowel dilatation, which can be life threatening. Here, we present a case of a 21-year-old male with a gigantic stomach secondary to DMD resolved with conservative management and no surgical intervention.

What Can We Do? Puzzling Over The Interpretation Of Heredity And Variation From Galton To Genetic Engineering, Peter J. Taylor

Working Papers on Science in a Changing World

First six chapters of a book motivated as follows: When I had mentioned to colleagues that I was exploring some significant issues overlooked by both sides in nature-nurture debates, the typical response was “we know, of course, that nature and nurture are intertwined”; they never asked “which nature-nurture science are you referring to?” It occurred to me that, in the long history of nature-nurture debates, opposing sides had always assumed or implied that these different scientific approaches were speaking to the same issues. If that were the case, then the challenge—something I was already puzzling over—was how best to draw …

Functional Network Resilience To Pathology In Presymptomatic Genetic Frontotemporal Dementia, Timothy Rittman, Robin Borchert, Simon Jones, John Van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce, Elizabeth Finger, Alexandre Mendonça, Sandro Sorbi, Jonathan D. Rohrer, James B. Rowe, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Luisa Benussi, Valentina Bessi, Giuliano Binetti

Medical Biophysics Publications

© 2019 The Authors The presymptomatic phase of neurodegenerative diseases are characterized by structural brain changes without significant clinical features. We set out to investigate the contribution of functional network resilience to preserved cognition in presymptomatic genetic frontotemporal dementia. We studied 172 people from families carrying genetic abnormalities in C9orf72, MAPT, or PGRN. Networks were extracted from functional MRI data and assessed using graph theoretical analysis. We found that despite loss of both brain volume and functional connections, there is maintenance of an efficient topological organization of the brain's functional network in the years leading up to the estimated age …

Surveying Apicomplexan Diversity And Dynamics In Narragansett Bay, Evelyn Spencer

Senior Honors Projects

Parasites play an important role in marine ecosystems and their diversity is generally understudied. Apicomplexans, a group of parasitic protists in the phylum Alveolata, infect a wide variety of animal hosts and are abundant in ecosystems spanning from Polar Regions to Neotropical rainforests. Previous data generated from marine sediments in Antarctica, Naples Bay, and off the coast of Oslo, exhibit high diversity and numbers of apicomplexans. Abundance and diversity of these protists are unknown for Narragansett Bay, despite the fact that they infect many commercially important species. The aim of my study was to obtain abundance data and understand genetic …

Differential Iron Regulatory Genetics In 2d & 3d Culture Of Breast Cancer Cells, Tyler Hanna, Suzy Torti Ph. D, Frank Torti M.D., Mph, Nicole Farra Ph. D.

Honors Scholar Theses

The iron regulatory axis has consistently been shown to be perturbed in cancer cell lines relative to non-cancerous cell lines. As cancer cells rapidly divide and grow, they require iron to fuel many intracellular processes, including DNA replication and protein synthesis. Three-dimensional cell culture is an increasingly popular method of culture that purportedly more accurately mimics the in vivo microenvironment of cancers over traditional two-dimensional culture. This project was prompted by previous lab results to investigate differential iron regulatory gene expression in 2D and 3D spheroid culture models. We replicated the findings that the gene hepcidin is induced in 3D …

Genetic Analysis Localizes A Novel Locus On Chromosome 4q For The Glaucoma Endophenotype, Cup-To-Disc Ratio: The Jiri Eye Study, Sarah E. Miller, Nicholas B. Blackburn, Suman S. Thapa, Sandra Laston, Satish Kumar, Juan M. Peralta, Janardan Subedi, John Blangero, Sarah Williams-Blangero, Matthew P. Johnson

School of Medicine Publications and Presentations

Purpose: Glaucoma is a heterogeneous disease influenced by genetic risk factors. However, not all genetic risk factors have been identified. The aim of this project is to localize genetic factors influencing known glaucoma endophenotypes: intraocular pressure (IOP), central corneal thickness (CCT), and vertical cup-to-disc ratio (VCDR).

Methods: This family-based study design utilizes phenotypic and genomic data from a single well-characterized pedigree residing in the Jiri region of Nepal. Measures of IOP, CCT and VCDR were obtained by Goldmann applanation tonometry, OCT, and slit lamp biomicroscopy, respectively. Using a genome-wide genotype data set (~550,000 SNPs), we performed a genome-wide linkage scan …

Ucp1 Expression-Associated Gene Signatures Of Human Epicardial Adipose Tissue., Kanta Chechi, Jinchu Vijay, Pierre Voisine, Patrick Mathieu, Yohan Bossé, Andre Tchernof, Elin Grundberg, Denis Richard

Manuscripts, Articles, Book Chapters and Other Papers

Multiple reports of uncoupling protein 1 (UCP1) expression have established its presence in human epicardial adipose tissue (eAT). Its functional relevance to eAT, however, remains largely unknown. In a recent study, we reported that adrenergic stimulation of eAT was associated with downregulation of secreted proteins involved in oxidative stress-related and immune-related pathways. Here, we explored the UCP1-associated features of human eAT using next-generation deep sequencing. Paired biopsies of eAT, mediastinal adipose tissue (mAT), and subcutaneous adipose tissue (sAT) obtained from cardiac surgery patients, with specific criteria of high and low expression of UCP1 in eAT, were subjected to RNA sequencing. …

Double Gene Knockout Of Pdx-1 And Hnf1Β Leads To Possible Novel Gene Therapy For Type 1 Diabetes, Kathryn Kosiorek

Spring Showcase for Research and Creative Inquiry

Diabetes Mellitus is a disease characterized by uncontrolled and elevated blood glucose which is the effect of inadequate levels of plasma insulin. Type I diabetes (T1D) ultimately stems from the autoimmune destruction of beta cells because of defects in the PDX-1 and possibly HNF1B. If both of these genes knocked out together increase the detriment effect of T1D, then a gene therapy can be created using the AAV vectors that not only targets one gene but both at the same time, increasing the strength of the gene therapy and the quality of life for the T1D patient.

Subsequent Event Risk In Individuals With Established Coronary Heart Disease, Riyaz S. Patel, Vinicius Tragante, Amand F. Schmidt, Raymond O. Mccubrey, Michael V. Holmes, Laurence J. Howe, Kenan Direk, Axel Åkerblom, Karin Leander, Salim S. Virani

Office of the Provost

Background: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals with established CHD.
Methods: The consortium currently includes 57 studies from 18 countries, recruiting 185 614 participants with either acute coronary syndrome, stable CHD, or a mixture of both at baseline. All studies collected biological samples and followed-up study participants prospectively for subsequent events.
Results: Enrollment into the individual studies took place between 1985 to present day with a duration of follow-up ranging from 9 months to 15 years. Within …

Detection Of Heteroplasmic Single Nucleotide Polymorphisms Using Melt Curve Analysis And Dual Labeled Fluorescent Probes, Emily Jezewski

Honors Theses

Plant mitochondrial genomes are strange – they are unusually large, consist of huge amounts of non-coding DNA, and contain of several overlapping regions throughout the genome. The genome is made of several different sized linear and circular molecules and different mitochondria within a cell will have different pieces of the genome. Even if multiple mitochondria contain the same region of the genome, these sequences can differ by single nucleotide polymorphisms (SNPS). This is known as heteroplasmy. Heteroplasmy has been documented in Arabidopsis thaliana using whole-genome sequencing data. While heteroplasmy is well-documented, its existence in the mitochondrial genome is unexpected and …

Plant Mitochondrial Genome Evolution And Structure Has Been Shaped By Double-Strand Break Repair And Recombination, Emily Wynn

School of Biological Sciences: Dissertations, Theses, and Student Research

Plant mitochondrial genomes are large but contain a small number of genes. These genes have very low mutation rates, but genomes rearrange and expand at significant rates. We propose that much of the apparent complexity of plant mitochondrial genomes can be explained by the interactions of double-strand break repair, recombination, and selection. One possible explanation for the disparity between the low mutation rates of genes and the high divergence of non-genes is that synonymous mutations in genes are not truly neutral. In some species, rps14 has been duplicated in the nucleus, allowing the mitochondrial copy to become a pseudogene. By …

A Qtl On Chromosome 3q23 Influences Processing Speed In Humans, Emma E. M. Knowles, Samuel R. Mathias, Josephine Mollon, Amanda Rodrigue, Marinka M. G. Koenis, Thomas D. Dyer, Harald H. H. Goring, Joanne E. Curran, Rene L. Olvera, Ravindranath Duggirala, Laura Almasy, John Blangero, David C. Glahn

School of Medicine Publications and Presentations

Processing speed is a psychological construct that refers to the speed with which an individual can perform any cognitive operation. Processing speed correlates strongly with general cognitive ability, declines sharply with age, and is impaired across a number of neurological and psychiatric disorders. Thus, identifying genes that influence processing speed will likely improve understanding of the genetics of intelligence, biological aging, and the etiologies of numerous disorders. Previous genetics studies of processing speed have relied on simple phenotypes (e.g., mean reaction time) derived from single tasks. This strategy assumes, erroneously, that processing speed is a unitary construct. In the present …