Introns

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  Subject Areas on Research

  • A comparison of the genes coding for canonical TRP channels and their M, V and P relatives. 
  • A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter. 
  • A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression. 
  • A gene controlling variation in Arabidopsis glucosinolate composition is part of the methionine chain elongation pathway. 
  • A global meta-analysis of Tuber ITS rDNA sequences: species diversity, host associations and long-distance dispersal. 
  • A map of 75 human ribosomal protein genes. 
  • A mechanism for expansion of regulatory T-cell repertoire and its role in self-tolerance. 
  • A multidimensional approach for detecting species patterns in Malagasy vertebrates. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A second leaky splice-site mutation in the spastin gene. 
  • A second locus for familial high myopia maps to chromosome 12q. 
  • A small circular TAR RNA decoy specifically inhibits Tat-activated HIV-1 transcription. 
  • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 
  • A tyrosine hydroxylase-yellow fluorescent protein knock-in reporter system labeling dopaminergic neurons reveals potential regulatory role for the first intron of the rodent tyrosine hydroxylase gene. 
  • Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1. 
  • Age-related susceptibility to severe malaria associated with galectin-2 in highland Papuans. 
  • Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis. 
  • Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. 
  • An intron facilitates activation of the calspermin gene by the testis-specific transcription factor CREM tau. 
  • An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: a case-control study. 
  • An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. 
  • Analysis of ENU-induced mutations at the Adh locus in Drosophila melanogaster. 
  • Analysis of the genome and transcriptome of Cryptococcus neoformans var. grubii reveals complex RNA expression and microevolution leading to virulence attenuation. 
  • Are mutations in the cystic fibrosis gene important in chronic pancreatitis? 
  • Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth. 
  • Breakpoints of the t(11;18)(q21;q21) in mucosa-associated lymphoid tissue (MALT) lymphoma lie within or near the previously undescribed gene MALT1 in chromosome 18. 
  • Calspermin gene transcription is regulated by two cyclic AMP response elements contained in an alternative promoter in the calmodulin kinase IV gene. 
  • Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm. 
  • Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia. 
  • Characterization of cis-regulatory regions responsible for developmental regulation of the gibberellin biosynthetic gene GA1 in Arabidopsis thaliana 
  • Characterization of the mouse SPARC/osteonectin gene. Intron/exon organization and an unusual promoter region. 
  • Characterization of the poly-T variant in the TOMM40 gene in diverse populations. 
  • Circularizing ribozymes and decoy-competitors by autocatalytic splicing in vitro and in vivo. 
  • Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6. 
  • Cloning and structural analysis of the human c-kit gene. 
  • Cloning of cDNA and analysis of the gene for mouse angiotensin II type 2 receptor. 
  • Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene. 
  • Co-regulation of nuclear respiratory factor-1 by NFkappaB and CREB links LPS-induced inflammation to mitochondrial biogenesis. 
  • Combined effects of the p53 and p73 polymorphisms on lung cancer risk. 
  • Comparative genomic analysis of fungal genomes reveals intron-rich ancestors. 
  • Comparison of ribosomal DNA ITS regions among geographic isolates of Cenococcum geophilum. 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies. 
  • Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. 
  • Constitutive magnification by the Ybb- chromosome of Drosophila melanogaster. 
  • Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica. 
  • Cyanobacterial ribosomal RNA genes with multiple, endonuclease-encoding group I introns 
  • Cytokine polymorphism and its possible impact on cancer. 
  • DNA sequence analysis of X-ray induced Adh null mutations in Drosophila melanogaster. 
  • Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability. 
  • Delineation of the intronless nature of the genes for the human and hamster beta 2-adrenergic receptor and their putative promoter regions. 
  • Dependence of paracentric inversion rate on tract length. 
  • Developmental regulation of the gibberellin biosynthetic gene GA1 in Arabidopsis thaliana. 
  • Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. 
  • Disarming the mustard oil bomb. 
  • Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. 
  • Downregulation of SNCA Expression by Targeted Editing of DNA Methylation: A Potential Strategy for Precision Therapy in PD. 
  • Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution. 
  • ETS transcription factors regulate an enhancer activity in the third intron of TNF-alpha. 
  • Effects of Combined Tristetraprolin/Tumor Necrosis Factor Receptor Deficiency on the Splenic Transcriptome. 
  • Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. 
  • Efficient and specific repair of sickle beta-globin RNA by trans-splicing ribozymes. 
  • Evaluating group I intron catalytic efficiency in mammalian cells. 
  • Evidence against equimolarity of large repeat arrangements and a predominant master circle structure of the mitochondrial genome from a monkeyflower (Mimulus guttatus) lineage with cryptic CMS. 
  • Evidence of mRNA-mediated intron loss in the human-pathogenic fungus Cryptococcus neoformans. 
  • Evolution of Pleopsidium (lichenized Ascomycota) S943 group I introns and the phylogeography of an intron-encoded putative homing endonuclease. 
  • Evolution of the 12 kDa FK506-binding protein gene. 
  • Expansion of the human mu-opioid receptor gene architecture: novel functional variants. 
  • FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations. 
  • Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. 
  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 
  • Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. 
  • GATA2 is associated with familial early-onset coronary artery disease. 
  • Gene prediction and verification in a compact genome with numerous small introns. 
  • Genetic analysis of the beta-tubulin gene, TUBB, in non-small-cell lung cancer. 
  • Genetic and evolutionary correlates of fine-scale recombination rate variation in Drosophila persimilis. 
  • Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis. 
  • Genetic, epigenetic, and environmental factors controlling oxytocin receptor gene expression. 
  • Genetics. Enhancing gene regulation. 
  • Genome organization and three kinds of heritable changes: general description and stochastic factors (a review). 
  • Genomes of Ashbya fungi isolated from insects reveal four mating-type loci, numerous translocations, lack of transposons, and distinct gene duplications. 
  • Genomic cloning of hGSTP1*C, an allelic human Pi class glutathione S-transferase gene variant and functional characterization of its retinoic acid response elements. 
  • Genomic organization and cloning of the human homologue of murine Sipa-1. 
  • Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. 
  • Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene. 
  • Genomic structure and embryonic expression of estrogen receptor beta a (ERbetaa) in zebrafish (Danio rerio). 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. 
  • Group I intron self-splicing with adenosine: evidence for a single nucleoside-binding site. 
  • Group I permuted intron-exon (PIE) sequences self-splice to produce circular exons. 
  • Group II introns designed to insert into therapeutically relevant DNA target sites in human cells. 
  • Group-I intron family in the nuclear ribosomal RNA small subunit genes of Cenococcum geophilum isolates. 
  • Hematopoietic-specific Stat5-null mice display microcytic hypochromic anemia associated with reduced transferrin receptor gene expression. 
  • High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer. 
  • High-Resolution Expression Map of the Arabidopsis Root Reveals Alternative Splicing and lincRNA Regulation. 
  • Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. 
  • Hypoxia in the thymus: role of oxygen tension in thymocyte survival. 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 
  • Identification of a novel gene linked to parkin via a bi-directional promoter. 
  • Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred. 
  • Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing. 
  • Identification of human short introns. 
  • Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. 
  • Imprinted expression of the canine IGF2R, in the absence of an anti-sense transcript or promoter methylation. 
  • Incongruence between primary sequence data and the distribution of a mitochondrial atp1 group II intron among ferns and horsetails 
  • Influenza A virus segments five and six can harbor artificial introns allowing expanded coding capacity. 
  • Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Intron retention in mRNA encoding ancillary subunit of insect voltage-gated sodium channel modulates channel expression, gating regulation and drug sensitivity. 
  • Intronic cis-regulatory modules mediate tissue-specific and microbial control of angptl4/fiaf transcription. 
  • Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. 
  • Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus. 
  • Iron metabolism in mice with partial frataxin deficiency. 
  • Isolation and characterization of the gene encoding rat glucose-dependent insulinotropic peptide. 
  • Ketamine up-regulates a cluster of intronic miRNAs within the serotonin receptor 2C gene by inhibiting glycogen synthase kinase-3. 
  • Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3. 
  • Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. 
  • Major clades of Agaricales: a multilocus phylogenetic overview. 
  • Messenger RNA intron in the nuclear 18s ribosomal RNA gene of deuteromycetes. 
  • Modeling in yeast how rDNA introns slow growth and increase desiccation tolerance in lichens. 
  • Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 
  • Molecular biology. Versatility of self-cleaving ribozymes. 
  • Molecular defects underlying the Kell null phenotype. 
  • Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 
  • Moving Beyond "Isolated" Gene Patents 
  • Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. 
  • Mutations in purine nucleoside phosphorylase deficiency. 
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 
  • NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans. 
  • Neuronal cell shape and neurite initiation are regulated by the Ndr kinase SAX-1, a member of the Orb6/COT-1/warts serine/threonine kinase family. 
  • No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease. 
  • Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population. 
  • Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. 
  • Numerous group I introns with variable distributions in the ribosomal DNA of a lichen fungus. 
  • One binding site determines sequence specificity of Tetrahymena pre-rRNA self-splicing, trans-splicing, and RNA enzyme activity. 
  • Optimizing the substrate specificity of a group I intron ribozyme. 
  • Organization of the human zeta-crystallin/quinone reductase gene (CRYZ). 
  • Phenotypic and genotypic characterization of Mycobacterium africanum isolates from West Africa. 
  • Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. 
  • Phylogenetic analyses suggest reverse splicing spread of group I introns in fungal ribosomal DNA. 
  • Phylogeny and biogeography of the American live oaks (Quercus subsection Virentes): a genomic and population genetics approach. 
  • Predicted group II intron lineages E and F comprise catalytically active ribozymes. 
  • Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. 
  • Probing the interplay between the two steps of group I intron splicing: competition of exogenous guanosine with omega G. 
  • Programmable mutually exclusive alternative splicing for generating RNA and protein diversity. 
  • Regulated expression of p18, a major phosphoprotein of leukemic cells. 
  • Reinvestigation of the Saccharomyces cerevisiae genome annotation by comparison to the genome of a related fungus: Ashbya gossypii. 
  • Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection. 
  • Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 
  • Retargeting mobile group II introns to repair mutant genes. 
  • Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing. 
  • Rpl13a small nucleolar RNAs regulate systemic glucose metabolism. 
  • SLC6A4 variation and citalopram response. 
  • SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. 
  • SOD2 polymorphisms: unmasking the effect of polymorphism on splicing. 
  • Selection of circularization sites in a group I IVS RNA requires multiple alignments of an internal template-like sequence. 
  • Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase. 
  • Sequencing and analysis of genomic fragments from the NF1 locus. 
  • Species identification and virulence attributes of Saccharomyces boulardii (nom. inval.). 
  • Structural organization and chromosomal assignment of the parvalbumin gene. 
  • Structural organization of the human MS4A gene cluster on Chromosome 11q12. 
  • Structure and domain organization of the CD19 antigen of human, mouse, and guinea pig B lymphocytes. Conservation of the extensive cytoplasmic domain. 
  • Structure and sequence of the mouse Bmp6 gene. 
  • Structure of the gene encoding the human B lymphocyte differentiation antigen CD20 (B1). 
  • Structure of the gene encoding the human leukocyte adhesion molecule-1 (TQ1, Leu-8) of lymphocytes and neutrophils. 
  • Structure of the genes encoding transcription factor IIB and TATA box-binding protein from Drosophila melanogaster. 
  • Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. 
  • TET2 binds the androgen receptor and loss is associated with prostate cancer. 
  • TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 
  • Targeting cells with single vectors using multiple-feature Boolean logic. 
  • The Alu neurodegeneration hypothesis: A primate-specific mechanism for neuronal transcription noise, mitochondrial dysfunction, and manifestation of neurodegenerative disease. 
  • The Epstein-Barr virus nuclear protein SM is both a post-transcriptional inhibitor and activator of gene expression. 
  • The GRK4 subfamily of G protein-coupled receptor kinases. Alternative splicing, gene organization, and sequence conservation. 
  • The antisense transcriptomes of human cells. 
  • The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors. 
  • The evolution of homing endonuclease genes and group I introns in nuclear rDNA. 
  • The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans. 
  • The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation. 
  • The mouse C-type transient receptor potential 2 (TRPC2) channel: alternative splicing and calmodulin binding to its N terminus. 
  • The mouse retinoid-X receptor-gamma gene: genomic organization and evidence for functional isoforms. 
  • The nicotinic acetylcholine receptor gene family of the silkworm, Bombyx mori. 
  • The nontranscribed chicken calmodulin pseudogene cross-hybridizes with mRNA from the slow-muscle troponin C gene. 
  • The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 
  • The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma. 
  • The role of the mismatch repair machinery in regulating mitotic and meiotic recombination between diverged sequences in yeast. 
  • Tissue-specific expression and regulation of the alternatively-spliced forms of lysyl hydroxylase 2 (LH2) in human kidney cells and skin fibroblasts. 
  • Total Synthesis of a Functional Designer Eukaryotic Chromosome 
  • Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. 
  • Transcription of H-2 and Qa genes in embryonic and adult mice. 
  • Transcriptional regulation of the mouse presenilin-1 gene. 
  • Translocation of Y-linked genes to the dot chromosome in Drosophila pseudoobscura. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Using 5'-PTMs to repair mutant beta-globin transcripts. 
  • Variability on the dot chromosome in the Drosophila simulans clade. 
  • Viable Mice with Extensive Gene Humanization (25-kbp) Created Using Embryonic Stem Cell/Blastocyst and CRISPR/Zygote Injection Approaches. 
  • Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. 
  • Whole-genome analyses resolve early branches in the tree of life of modern birds. 
  • Widespread occurrence of spliceosomal introns in the rDNA genes of ascomycetes. 
  • [Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]. 
  • [Renal erythropoietin-producing cells and kidney disease]. 
  • cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. 
  • p45 NF-E2 regulates expression of thromboxane synthase in megakaryocytes. 
  • p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics,, Molecular Genetics and Microbiology
  • Shinohara, Mari L., Professor of Integrative Immunobiology, Cell Biology
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology