Alternative splicing. Medical search

A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.

Complement activation initiated by the interaction of microbial ANTIGENS with COMPLEMENT C3B. When COMPLEMENT FACTOR B binds to the membrane-bound C3b, COMPLEMENT FACTOR D cleaves it to form alternative C3 CONVERTASE (C3BBB) which, stabilized by COMPLEMENT FACTOR P, is able to cleave multiple COMPLEMENT C3 to form alternative C5 CONVERTASE (C3BBB3B) leading to cleavage of COMPLEMENT C5 and the assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.

Procedures, such as TISSUE CULTURE TECHNIQUES; mathematical models; etc., when used or advocated for use in place of the use of animals in research or diagnostic laboratories.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

Therapeutic practices which are not currently considered an integral part of conventional allopathic medical practice. They may lack biomedical explanations but as they become better researched some (PHYSICAL THERAPY MODALITIES; DIET; ACUPUNCTURE) become widely accepted whereas others (humors, radium therapy) quietly fade away, yet are important historical footnotes. Therapies are termed as Complementary when used in addition to conventional treatments and as Alternative when used instead of conventional treatment.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.

The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.

Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

RNA transcripts of the DNA that are in some unfinished stage of post-transcriptional processing (RNA PROCESSING, POST-TRANSCRIPTIONAL) required for function. RNA precursors may undergo several steps of RNA SPLICING during which the phosphodiester bonds at exon-intron boundaries are cleaved and the introns are excised. Consequently a new bond is formed between the ends of the exons. Resulting mature RNAs can then be used; for example, mature mRNA (RNA, MESSENGER) is used as a template for protein production.

A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb.

Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.

The sequential activation of serum COMPLEMENT PROTEINS to create the COMPLEMENT MEMBRANE ATTACK COMPLEX. Factors initiating complement activation include ANTIGEN-ANTIBODY COMPLEXES, microbial ANTIGENS, or cell surface POLYSACCHARIDES.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Elements of limited time intervals, contributing to particular results or situations.

Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.

Established cell cultures that have the potential to propagate indefinitely.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

A glycoprotein that is central in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C3 can be cleaved into COMPLEMENT C3A and COMPLEMENT C3B, spontaneously at low level or by C3 CONVERTASE at high level. The smaller fragment C3a is an ANAPHYLATOXIN and mediator of local inflammatory process. The larger fragment C3b binds with C3 convertase to form C5 convertase.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.

The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.

The addition of a tail of polyadenylic acid (POLY A) to the 3' end of mRNA (RNA, MESSENGER). Polyadenylation involves recognizing the processing site signal, (AAUAAA), and cleaving of the mRNA to create a 3' OH terminal end to which poly A polymerase (POLYNUCLEOTIDE ADENYLYLTRANSFERASE) adds 60-200 adenylate residues. The 3' end processing of some messenger RNAs, such as histone mRNA, is carried out by a different process that does not include the addition of poly A as described here.

A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

A serine protease that is the complex of COMPLEMENT C3B and COMPLEMENT FACTOR BB. It cleaves multiple COMPLEMENT C3 into COMPLEMENT C3A (anaphylatoxin) and COMPLEMENT C3B in the ALTERNATIVE COMPLEMENT ACTIVATION PATHWAY.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

Complement activation initiated by the binding of COMPLEMENT C1 to ANTIGEN-ANTIBODY COMPLEXES at the COMPLEMENT C1Q subunit. This leads to the sequential activation of COMPLEMENT C1R and COMPLEMENT C1S subunits. Activated C1s cleaves COMPLEMENT C4 and COMPLEMENT C2 forming the membrane-bound classical C3 CONVERTASE (C4B2A) and the subsequent C5 CONVERTASE (C4B2A3B) leading to cleavage of COMPLEMENT C5 and the assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

A 53-kDa protein that is a positive regulator of the alternate pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It stabilizes the ALTERNATIVE PATHWAY C3 CONVERTASE (C3bBb) and protects it from rapid inactivation, thus facilitating the cascade of COMPLEMENT ACTIVATION and the formation of MEMBRANE ATTACK COMPLEX. Individuals with mutation in the PFC gene exhibit properdin deficiency and have a high susceptibility to infections.

Characteristic restricted to a particular organ of the body, such as a cell type, metabolic response or expression of a particular protein or antigen.

The different gene transcripts generated from a single gene by RNA EDITING or ALTERNATIVE SPLICING of RNA PRECURSORS.

A serum protein which is important in the ALTERNATIVE COMPLEMENT ACTIVATION PATHWAY. This enzyme cleaves the COMPLEMENT C3B-bound COMPLEMENT FACTOR B to form C3bBb which is ALTERNATIVE PATHWAY C3 CONVERTASE.

The relationships of groups of organisms as reflected by their genetic makeup.

The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.

Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.

Serine proteases that cleave COMPLEMENT C3 into COMPLEMENT C3A and COMPLEMENT C3B, or cleave COMPLEMENT C5 into COMPLEMENT C5A and COMPLEMENT C5B. These include the different forms of C3/C5 convertases in the classical and the alternative pathways of COMPLEMENT ACTIVATION. Both cleavages take place at the C-terminal of an ARGININE residue.

Computer-based representation of physical systems and phenomena such as chemical processes.

A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.

The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

The act of making a selection among two or more alternatives, usually after a period of deliberation.

Genotypic differences observed among individuals in a population.

Proteins prepared by recombinant DNA technology.

Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.

Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

The rate dynamics in chemical or physical systems.

Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.

The larger fragment generated from the cleavage of COMPLEMENT C3 by C3 CONVERTASE. It is a constituent of the ALTERNATIVE PATHWAY C3 CONVERTASE (C3bBb), and COMPLEMENT C5 CONVERTASES in both the classical (C4b2a3b) and the alternative (C3bBb3b) pathway. C3b participates in IMMUNE ADHERENCE REACTION and enhances PHAGOCYTOSIS. It can be inactivated (iC3b) or cleaved by various proteases to yield fragments such as COMPLEMENT C3C; COMPLEMENT C3D; C3e; C3f; and C3g.

A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.

Proteins found in any species of bacterium.

A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

A method of comparing the cost of a program with its expected benefits in dollars (or other currency). The benefit-to-cost ratio is a measure of total return expected per unit of money spent. This analysis generally excludes consideration of factors that are not measured ultimately in economic terms. Cost effectiveness compares alternative ways to achieve a specific set of results.

Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

A cell line derived from cultured tumor cells.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

A multistage process that includes cloning, physical mapping, subcloning, sequencing, and information analysis of an RNA SEQUENCE.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

A family of ribonucleoproteins that were originally found as proteins bound to nascent RNA transcripts in the form of ribonucleoprotein particles. Although considered ribonucleoproteins they are primarily classified by their protein component. They are involved in a variety of processes such as packaging of RNA and RNA TRANSPORT within the nucleus. A subset of heterogeneous-nuclear ribonucleoproteins are involved in additional functions such as nucleocytoplasmic transport (ACTIVE TRANSPORT, CELL NUCLEUS) of RNA and mRNA stability in the CYTOPLASM.

Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.

An important soluble regulator of the alternative pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It is a 139-kDa glycoprotein expressed by the liver and secreted into the blood. It binds to COMPLEMENT C3B and makes iC3b (inactivated complement 3b) susceptible to cleavage by COMPLEMENT FACTOR I. Complement factor H also inhibits the association of C3b with COMPLEMENT FACTOR B to form the C3bB proenzyme, and promotes the dissociation of Bb from the C3bBb complex (COMPLEMENT C3 CONVERTASE, ALTERNATIVE PATHWAY).

Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.

Sequential operating programs and data which instruct the functioning of a digital computer.

Use of plants or herbs to treat diseases or to alleviate pain.

Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.

Accumulation of a drug or chemical substance in various organs (including those not relevant to its pharmacologic or therapeutic action). This distribution depends on the blood flow or perfusion rate of the organ, the ability of the drug to penetrate organ membranes, tissue specificity, protein binding. The distribution is usually expressed as tissue to plasma ratios.

Sequences within RNA that regulate the processing, stability (RNA STABILITY) or translation (TRANSLATION, GENETIC) of RNA.

The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.

Serum glycoproteins participating in the host defense mechanism of COMPLEMENT ACTIVATION that creates the COMPLEMENT MEMBRANE ATTACK COMPLEX. Included are glycoproteins in the various pathways of complement activation (CLASSICAL COMPLEMENT PATHWAY; ALTERNATIVE COMPLEMENT PATHWAY; and LECTIN COMPLEMENT PATHWAY).

A RNA-binding protein that binds to polypyriminidine rich regions in the INTRONS of messenger RNAs. Polypyrimidine tract-binding protein may be involved in regulating the ALTERNATIVE SPLICING of mRNAs since its presence on an intronic RNA region that is upstream of an EXON inhibits the splicing of the exon into the final mRNA product.

Endogenous proteins that inhibit or inactivate COMPLEMENT C3B. They include COMPLEMENT FACTOR H and COMPLEMENT FACTOR I (C3b/C4b inactivator). They cleave or promote the cleavage of C3b into inactive fragments, and thus are important in the down-regulation of COMPLEMENT ACTIVATION and its cytolytic sequence.

Any method used for determining the location of and relative distances between genes on a chromosome.

Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.

Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.

A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.

Detection of RNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.

The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.

Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

A protein which is a subunit of RNA polymerase. It effects initiation of specific RNA chains from DNA.

Alternatives to the use of animals in research, testing, and education. The alternatives may include reduction in the number of animals used, replacement of animals with a non-animal model or with animals of a species lower phylogenetically, or refinement of methods to minimize pain and distress of animals used.

Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).

The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.

A class of closely related heterogeneous-nuclear ribonucleoproteins of approximately 34-40 kDa in size. Although they are generally found in the nucleoplasm, they also shuttle between the nucleus and the cytoplasm. Members of this class have been found to have a role in mRNA transport, telomere biogenesis and RNA SPLICING.

Theoretical representations that simulate the behavior or activity of systems, processes, or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

Complexes of RNA-binding proteins with ribonucleic acids (RNA).

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.

The systematic study of the complete DNA sequences (GENOME) of organisms.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

Application of statistical procedures to analyze specific observed or assumed facts from a particular study.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

Transport proteins that carry specific substances in the blood or across cell membranes.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.

DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.

Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.

Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.

Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.

Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.

Substances that reduce the growth or reproduction of BACTERIA.

The relationship between the dose of an administered drug and the response of the organism to the drug.

Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.

Post-transcriptional biological modification of messenger, transfer, or ribosomal RNAs or their precursors. It includes cleavage, methylation, thiolation, isopentenylation, pseudouridine formation, conformational changes, and association with ribosomal protein.

The first nucleotide of a transcribed DNA sequence where RNA polymerase (DNA-DIRECTED RNA POLYMERASE) begins synthesizing the RNA transcript.

Methods of creating machines and devices.

A codon that directs initiation of protein translation (TRANSLATION, GENETIC) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon.

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.

CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)

The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.

Organelles in which the splicing and excision reactions that remove introns from precursor messenger RNA molecules occur. One component of a spliceosome is five small nuclear RNA molecules (U1, U2, U4, U5, U6) that, working in conjunction with proteins, help to fold pieces of RNA into the right shapes and later splice them into the message.

Studies determining the effectiveness or value of processes, personnel, and equipment, or the material on conducting such studies. For drugs and devices, CLINICAL TRIALS AS TOPIC; DRUG EVALUATION; and DRUG EVALUATION, PRECLINICAL are available.

Studies to determine the advantages or disadvantages, practicability, or capability of accomplishing a projected plan, study, or project.

Family in the order COLUMBIFORMES, comprised of pigeons or doves. They are BIRDS with short legs, stout bodies, small heads, and slender bills. Some sources call the smaller species doves and the larger pigeons, but the names are interchangeable.

The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).

Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

A plan for collecting and utilizing data so that desired information can be obtained with sufficient precision or so that an hypothesis can be tested properly.

Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)

Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.

Deletion of sequences of nucleic acids from the genetic material of an individual.

Serum proteins that negatively regulate the cascade process of COMPLEMENT ACTIVATION. Uncontrolled complement activation and resulting cell lysis is potentially dangerous for the host. The complement system is tightly regulated by inactivators that accelerate the decay of intermediates and certain cell surface receptors.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

The three possible sequences of CODONS by which GENETIC TRANSLATION may occur from one nucleotide sequence. A segment of mRNA 5'AUCCGA3' could be translated as 5'AUC.. or 5'UCC.. or 5'CCG.., depending on the location of the START CODON.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A group of adenine ribonucleotides in which the phosphate residues of each adenine ribonucleotide act as bridges in forming diester linkages between the ribose moieties.

A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.

The use of faith and spirit to cure disease.

Databases devoted to knowledge about specific genes and gene products.

An array of tests used to determine the toxicity of a substance to living systems. These include tests on clinical drugs, foods, and environmental pollutants.

A component of the CLASSICAL COMPLEMENT PATHWAY. C2 is cleaved by activated COMPLEMENT C1S into COMPLEMENT C2B and COMPLEMENT C2A. C2a, the COOH-terminal fragment containing a SERINE PROTEASE, combines with COMPLEMENT C4B to form C4b2a (CLASSICAL PATHWAY C3 CONVERTASE) and subsequent C4b2a3b (CLASSICAL PATHWAY C5 CONVERTASE).

Common name for the species Gallus gallus, the domestic fowl, in the family Phasianidae, order GALLIFORMES. It is descended from the red jungle fowl of SOUTHEAST ASIA.

A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.

A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.

Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.

Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.

A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.

Concentrated pharmaceutical preparations of plants obtained by removing active constituents with a suitable solvent, which is evaporated away, and adjusting the residue to a prescribed standard.

Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.

The protection of animals in laboratories or other specific environments by promoting their health through better nutrition, housing, and care.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

The strengthening of a conditioned response.

A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.

A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.

The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.

Works about clinical trials that involve at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table.

The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.

The discipline concerned with using the combination of conventional ALLOPATHIC MEDICINE and ALTERNATIVE MEDICINE to address the biological, psychological, social, and spiritual aspects of health and illness.

Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

The giving of drugs, chemicals, or other substances by mouth.

Antibodies produced by a single clone of cells.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.

A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.

Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery.

The process of making a selective intellectual judgment when presented with several complex alternatives consisting of several variables, and usually defining a course of action or an idea.

Tumors or cancer of the human BREAST.

Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.

A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.

Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).

A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.

A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Characterization of an amphioxus paired box gene, AmphiPax2/5/8: developmental expression patterns in optic support cells, nephridium, thyroid-like structures and pharyngeal gill slits, but not in the midbrain-hindbrain boundary region. (1/9069)

On the basis of developmental gene expression, the vertebrate central nervous system comprises: a forebrain plus anterior midbrain, a midbrain-hindbrain boundary region (MHB) having organizer properties, and a rhombospinal domain. The vertebrate MHB is characterized by position, by organizer properties and by being the early site of action of Wnt1 and engrailed genes, and of genes of the Pax2/5/8 subfamily. Wada and others (Wada, H., Saiga, H., Satoh, N. and Holland, P. W. H. (1998) Development 125, 1113-1122) suggested that ascidian tunicates have a vertebrate-like MHB on the basis of ascidian Pax258 expression there. In another invertebrate chordate, amphioxus, comparable gene expression evidence for a vertebrate-like MHB is lacking. We, therefore, isolated and characterized AmphiPax2/5/8, the sole member of this subfamily in amphioxus. AmphiPax2/5/8 is initially expressed well back in the rhombospinal domain and not where a MHB would be expected. In contrast, most of the other expression domains of AmphiPax2/5/8 correspond to expression domains of vertebrate Pax2, Pax5 and Pax8 in structures that are probably homologous - support cells of the eye, nephridium, thyroid-like structures and pharyngeal gill slits; although AmphiPax2/5/8 is not transcribed in any structures that could be interpreted as homologues of vertebrate otic placodes or otic vesicles. In sum, the developmental expression of AmphiPax2/5/8 indicates that the amphioxus central nervous system lacks a MHB resembling the vertebrate isthmic region. Additional gene expression data for the developing ascidian and amphioxus nervous systems would help determine whether a MHB is a basal chordate character secondarily lost in amphioxus. The alternative is that the MHB is a vertebrate innovation. (+info)

The role of gene splicing, gene amplification and regulation in mosquito insecticide resistance. (2/9069)

The primary routes of insecticide resistance in all insects are alterations in the insecticide target sites or changes in the rate at which the insecticide is detoxified. Three enzyme systems, glutathione S-transferases, esterases and monooxygenases, are involved in the detoxification of the four major insecticide classes. These enzymes act by rapidly metabolizing the insecticide to non-toxic products, or by rapidly binding and very slowly turning over the insecticide (sequestration). In Culex mosquitoes, the most common organophosphate insecticide resistance mechanism is caused by co-amplification of two esterases. The amplified esterases are differentially regulated, with three times more Est beta 2(1) being produced than Est alpha 2(1). Cis-acting regulatory sequences associated with these esterases are under investigation. All the amplified esterases in different Culex species act through sequestration. The rates at which they bind with insecticides are more rapid than those for their non-amplified counterparts in the insecticide-susceptible insects. In contrast, esterase-based organophosphate resistance in Anopheles is invariably based on changes in substrate specificities and increased turnover rates of a small subset of insecticides. The up-regulation of both glutathione S-transferases and monooxygenases in resistant mosquitoes is due to the effects of a single major gene in each case. The products of these major genes up-regulate a broad range of enzymes. The diversity of glutathione S-transferases produced by Anopheles mosquitoes is increased by the splicing of different 5' ends of genes, with a single 3' end, within one class of this enzyme family. The trans-acting regulatory factors responsible for the up-regulation of both the monooxygenase and glutathione S-transferases still need to be identified, but the recent development of molecular tools for positional cloning in Anopheles gambiae now makes this possible. (+info)

Expression of the naturally occurring truncated trkB neurotrophin receptor induces outgrowth of filopodia and processes in neuroblastoma cells. (3/9069)

We have investigated the effects of the truncated trkB receptor isoform T1 (trkB.T1) by transient transfection into mouse N2a neuroblastoma cells. We observed that expression of trkB.T1 leads to a striking change in cell morphology characterized by outgrowth of filopodia and processes. A similar morphological response was also observed in SH-SY5Y human neuroblastoma cells and NIH3T3 fibroblasts transfected with trkB.T1. N2a cells lack endogenous expression of trkB isoforms, but express barely detectable amounts of its ligands, brain-derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4). The morphological change was ligand-independent, since addition of exogenous BDNF or NT-4 or blockade of endogenous trkB ligands did not influence this response. Filopodia and process outgrowth was significantly suppressed when full-length trkB.TK+ was cotransfected together with trkB.T1 and this inhibitory effect was blocked by tyrosine kinase inhibitor K252a. Transfection of trkB.T1 deletion mutants showed that the morphological response is dependent on the extracellular, but not the intracellular domain of the receptor. Our results suggest a novel ligand-independent role for truncated trkB in the regulation of cellular morphology. (+info)

Differential stability of the DNA-activated protein kinase catalytic subunit mRNA in human glioma cells. (4/9069)

DNA-dependent protein kinase (DNA-PK) functions in double-strand break repair and immunoglobulin [V(D)J] recombination. We previously established a radiation-sensitive human cell line, M059J, derived from a malignant glioma, which lacks the catalytic subunit (DNA-PKcs) of the DNA-PK multiprotein complex. Although previous Northern blot analysis failed to detect the DNA-PKcs transcript in these cells, we show here through quantitative studies that the transcript is present, albeit at greatly reduced (approximately 20x) levels. Sequencing revealed no genetic alteration in either the promoter region, the kinase domain, or the 3' untranslated region of the DNA-PKcs gene to account for the reduced transcript levels. Nuclear run-on transcription assays indicated that the rate of DNA-PKcs transcription in M059J and DNA-PKcs proficient cell lines was similar, but the stability of the DNA-PKcs message in the M059J cell line was drastically (approximately 20x) reduced. Furthermore, M059J cells lack an alternately spliced DNA-PKcs transcript that accounts for a minor (5-20%) proportion of the DNA-PKcs message in all other cell lines tested. Thus, alterations in DNA-PKcs mRNA stability and/or the lack of the alternate mRNA may result in the loss of DNA-PKcs activity. This finding has important implications as DNA-PKcs activity is essential to cells repairing damage induced by radiation or radiomimetric agents. (+info)

Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences. (5/9069)

Splicing enhancers are RNA sequences required for accurate splice site recognition and the control of alternative splicing. In this study, we used an in vitro selection procedure to identify and characterize novel RNA sequences capable of functioning as pre-mRNA splicing enhancers. Randomized 18-nucleotide RNA sequences were inserted downstream from a Drosophila doublesex pre-mRNA enhancer-dependent splicing substrate. Functional splicing enhancers were then selected by multiple rounds of in vitro splicing in nuclear extracts, reverse transcription, and selective PCR amplification of the spliced products. Characterization of the selected splicing enhancers revealed a highly heterogeneous population of sequences, but we identified six classes of recurring degenerate sequence motifs five to seven nucleotides in length including novel splicing enhancer sequence motifs. Analysis of selected splicing enhancer elements and other enhancers in S100 complementation assays led to the identification of individual enhancers capable of being activated by specific serine/arginine (SR)-rich splicing factors (SC35, 9G8, and SF2/ASF). In addition, a potent splicing enhancer sequence isolated in the selection specifically binds a 20-kDa SR protein. This enhancer sequence has a high level of sequence homology with a recently identified RNA-protein adduct that can be immunoprecipitated with an SRp20-specific antibody. We conclude that distinct classes of selected enhancers are activated by specific SR proteins, but there is considerable sequence degeneracy within each class. The results presented here, in conjunction with previous studies, reveal a remarkably broad spectrum of RNA sequences capable of binding specific SR proteins and/or functioning as SR-specific splicing enhancers. (+info)

Alterations in the conserved SL1 trans-spliced leader of Caenorhabditis elegans demonstrate flexibility in length and sequence requirements in vivo. (6/9069)

Approximately 70% of mRNAs in Caenorhabditis elegans are trans spliced to conserved 21- to 23-nucleotide leader RNAs. While the function of SL1, the major C. elegans trans-spliced leader, is unknown, SL1 RNA, which contains this leader, is essential for embryogenesis. Efforts to characterize in vivo requirements of the SL1 leader sequence have been severely constrained by the essential role of the corresponding DNA sequences in SL1 RNA transcription. We devised a heterologous expression system that circumvents this problem, making it possible to probe the length and sequence requirements of the SL1 leader without interfering with its transcription. We report that expression of SL1 from a U2 snRNA promoter rescues mutants lacking the SL1-encoding genes and that the essential embryonic function of SL1 is retained when approximately one-third of the leader sequence and/or the length of the leader is significantly altered. In contrast, although all mutant SL1 RNAs were well expressed, more severe alterations eliminate this essential embryonic function. The one non-rescuing mutant leader tested was never detected on messages, demonstrating that part of the leader sequence is essential for trans splicing in vivo. Thus, in spite of the high degree of SL1 sequence conservation, its length, primary sequence, and composition are not critical parameters of its essential embryonic function. However, particular nucleotides in the leader are essential for the in vivo function of the SL1 RNA, perhaps for its assembly into a functional snRNP or for the trans-splicing reaction. (+info)

Mammalian staufen is a double-stranded-RNA- and tubulin-binding protein which localizes to the rough endoplasmic reticulum. (7/9069)

Staufen (Stau) is a double-stranded RNA (dsRNA)-binding protein involved in mRNA transport and localization in Drosophila. To understand the molecular mechanisms of mRNA transport in mammals, we cloned human (hStau) and mouse (mStau) staufen cDNAs. In humans, four transcripts arise by differential splicing of the Stau gene and code for two proteins with different N-terminal extremities. In vitro, hStau and mStau bind dsRNA via each of two full-length dsRNA-binding domains and tubulin via a region similar to the microtubule-binding domain of MAP-1B, suggesting that Stau cross-links cytoskeletal and RNA components. Immunofluorescent double labeling of transfected mammalian cells revealed that Stau is localized to the rough endoplasmic reticulum (RER), implicating this RNA-binding protein in mRNA targeting to the RER, perhaps via a multistep process involving microtubules. These results are the first demonstration of the association of an RNA-binding protein in addition to ribosomal proteins, with the RER, implicating this class of proteins in the transport of RNA to its site of translation. (+info)

Expression of novel alternatively spliced isoforms of the oct-1 transcription factor. (8/9069)

Analysis of the alternatively spliced isoforms of the human and mouse oct-1 genes, combined with their exon-intron structure, show a high level of evolutionary conservation between these two species. The differential expression of several oct-1 isoforms was examined by reverse transcription-polymerase chain reaction performed on the 3' region of the murine oct-1 cDNA. Variations in the relative levels and patterns of expression of the isoforms were found among different tissues. Three novel isoforms originating from the 3'-distal region of oct-1, were isolated and sequenced: Two were derived from testis, and one from myeloma cells. Splicing out of different exons as revealed in the structure of these isoforms results in reading frameshifts that presumably lead to the expression of shortened Oct-1 proteins, with distinct C-terminal tails. Altogether, six out of the eight known murine oct-1 isoforms may have distinct C-termini, implying that these multiple tails have different functional roles in cellular differentiation and physiology. (+info)

Alternative splicing[edit]. Mammalian TNNT3 gene contains 19 exons. Alternative RNA splicing of 8 of them significantly ... Through alternative splicing of the fetal exon and other alternative exons in the N-terminal variable region, the expression of ... Alternative splicing of the two C-terminal mutually exclusive exons 16 and 17 appears also regulated during development.[14] ... 3).[16][17][18] Reflecting the power of combined alternative splicing of multiple exons to generate fsTnT variants, two- ...

https://en.wikipedia.org/wiki/TNNT3

Alternative splicing differs from RNA editing in that alternative splicing does not change the mRNA sequence like RNA editing ... Alternative splicing is a mechanism by which different proteins can be produced from a single gene by means of using ... This includes alternative splicing during transcription, whether the viral genome is segmented, the host range of viruses, ... Viruses may make use of alternative splicing solely to produce multiple proteins from a single pre-mRNA strand or for other ...

https://en.wikipedia.org/wiki/Baltimore_classification

Roberts's discovery of the alternative splicing of genes, in particular, has had a profound impact on the study and ... or Medicine with Phillip Allen Sharp for the discovery of introns in eukaryotic DNA and the mechanism of gene-splicing. He ...

https://en.wikipedia.org/wiki/Richard_J._Roberts

"Gene Splicing Mechanism , Alternative Splicing Tutorial , Splice Variant Detection". www.premierbiosoft.com. Retrieved 2016-05- ... believe is a clear sign of the well understood field of gene splicing.[21] ...

https://en.wikipedia.org/wiki/SARS_conspiracy_theory

Are You reelin in the Years? Not without Alternative Splicing. ... alternative splicing, and transcription units of the human ... ApoER2 splice variants can act as a receptor for alpha-2-macroglobulin which can have a role in clearance of alpha-2- ... In ApoER2, there is a proline-rich 59 amino acid insert encoded by the alternatively spliced exon 19. This insert allows for ... Studies with mice have shown that knocking out ApoER2 or just the alternatively spliced exon 19 causes a much greater ...

https://en.wikipedia.org/wiki/Low-density_lipoprotein_receptor-related_protein_8

Alternative splicing produces ∆Elk1. This variant lacks part of the DNA-binding domain that allows interaction with SRF. On the ... Elk1 also interacts with BRCA1 splice variants, namely BRCA1a and BRCA1b. This interaction enhances BRCA1-mediated growth ... "c-Fos oncogene regulator Elk-1 interacts with BRCA1 splice variants BRCA1a/1b and enhances BRCA1a/1b-mediated growth ...

https://en.wikipedia.org/wiki/ELK1

Evidence for alternative splicing". J. Mol. Biol. 207 (3): 491-503. doi:10.1016/0022-2836(89)90459-2. PMID 2760922. Buvoli M, ... Buvoli M, Cobianchi F, Bestagno MG, Mangiarotti A, Bassi MT, Biamonti G, Riva S (1990). "Alternative splicing in the human gene ... and may modulate splice site selection. Multiple alternatively spliced transcript variants have been found for this gene but ... These variants have multiple alternative transcription initiation sites and multiple polyA sites. Post translational ...

https://en.wikipedia.org/wiki/HNRNPA1

Kelemen O, Convertini P, Zhang Z, Wen Y, Shen M, Falaleeva M, Stamm S (February 2013). "Function of alternative splicing". Gene ... Another mechanism for the correct regulation of gene expression is achieved through alternative splicing. This is a co- ... Latorre E, Mesonero JE, Harries LW (November 2019). "Alternative splicing in serotonergic system: Implications in ... including utilization of alternative splice acceptor sites, exon skipping, rare exon usage, and intron retention. There are a ...

https://en.wikipedia.org/wiki/5-HT2A_receptor

Alternative splicingEdit. Main article: Alternative splicing. Alternative splicing (the re-combination of different exons) is a ... Introns typically have a GU nucleotide sequence at the 5' end splice site, and an AG at the 3' end splice site. The 3' splice ... These include the 5' end splice site, the branch point sequence, the polypyrimidine tract, and the 3' end splice site. The ... splice site interaction on a model of substrate oligonucleotide containing a short 5' exon and 5' splice site.[24] Binding of ...

https://en.m.wikipedia.org/wiki/Spliceosome

SMN2 alternative splicing modulationEdit. This approach aims at modifying the alternative splicing of the SMN2 gene so that to ... The SMN2 gene, on the other hand - due to a variation in a single nucleotide (840.C→T) - undergoes alternative splicing at the ... Basic research has also identified other compounds which modified SMN2 splicing in vitro, like sodium orthovanadate[48] and ... The following splicing modulators have reached clinical stage development:. *Branaplam (LMI070, NVS-SM1) is a proprietary small ...

https://en.m.wikipedia.org/wiki/Spinal_muscular_atrophy

Alternative splicing, polyadenylation, and isoforms". The Journal of Biological Chemistry. 270 (34): 20112-22. doi:10.1074/jbc. ... Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. Cluster of differentiation ...

https://en.wikipedia.org/wiki/Fucosyltransferase_3

Alternative splicing of transcription products". The Journal of Biological Chemistry. 272 (28): 17843-50. doi:10.1074/jbc. ... Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional ... "Multi-forms of human MTH1 polypeptides produced by alternative translation initiation and single nucleotide polymorphism". ...

https://en.wikipedia.org/wiki/2-hydroxy-dATP_diphosphatase

Teplova M, Patel DJ (December 2008). "Structural insights into RNA recognition by the alternative-splicing regulator ... Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a ... The repressive function of Human MBNL1 by sequestering at normal splice sites has been shown to lead to RNA-splicing defects ... autoregulate alternative splicing of the MBNL1 pre-mRNA transcript. The founding member of the human MBNL family of proteins ...

https://en.wikipedia.org/wiki/MBNL1

Alternative splicing, polyadenylation, and isoforms". The Journal of Biological Chemistry. 270 (34): 20112-22. doi:10.1074/jbc. ...

https://en.wikipedia.org/wiki/FUT5

Kim N; Lee C (2008). Bioinformatics detection of alternative splicing. Methods Mol. Biol. Methods in Molecular Biology™. 452. ... can be aligned to a sequenced genome to find where there are genes and get information about alternative splicing and RNA ... BLAST was developed to provide a faster alternative to FASTA without sacrificing much accuracy; like FASTA, BLAST uses a word ... Optical computing approaches have been suggested as promising alternatives to the current electrical implementations, yet their ...

https://en.wikipedia.org/wiki/Sequence_alignment

Lareau LF, Green RE, Bhatnagar RS, Brenner SE (June 2004). "The evolving roles of alternative splicing". Current Opinion in ...

https://en.wikipedia.org/wiki/Aminoacyl_tRNA_synthetase

Woodley L, Valcárcel J (Oct 2002). "Regulation of alternative pre-mRNA splicing". Briefings in Functional Genomics & Proteomics ... the mutant pre-mRNA and the therapeutic pre-trans-splicing molecule carrying the wild-type sequence are spliced together to ... masking exonic splicing enhancer sequences and therefore preventing binding of the splicing machinery and therefore resulting ... Wally V, Murauer EM, Bauer JW (Aug 2012). "Spliceosome-mediated trans-splicing: the therapeutic cut and paste". The Journal of ...

https://en.wikipedia.org/wiki/Myosin_binding_protein_C,_cardiac

Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been ...

https://en.wikipedia.org/wiki/IHPK1

Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]. GRCh38: Ensembl release 89: ENSG00000186487 ...

https://en.wikipedia.org/wiki/MYT1L

This gene undergoes extensive alternative splicing; although ten transcript variants have been described, the full length ... Functional diversity of GIT2 through alternative splicing". The Journal of Biological Chemistry. 275 (29): 22373-80. doi: ...

https://en.wikipedia.org/wiki/GIT2

... is a database of genomic annotations taking alternative splicing events into consideration. Alternative splicing TassDB ... genome annotation for alternative splicing". Nucleic Acids Res. England. 33 (Database issue): D75-9. doi:10.1093/nar/gki118. ...

https://en.wikipedia.org/wiki/ECgene

Alternative splicing results in transcript variants. The LRRs and NTF2-like domains are required for export activity. The ... "Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing". PLOS ... is a component of the splicing-dependent exon-exon junction complex". The EMBO Journal. 20 (22): 6424-33. doi:10.1093/emboj/ ...

https://en.wikipedia.org/wiki/NXF1

Barta, Andrea; Schumperli, Daniel (2010). "Editorial on alternative splicing and disease". RNA Biology. 7 (4): 388-389. doi: ... the ribosomes would try to bind to both the un-spliced primary RNA transcript and the spliced mRNA, which would result in a ... "Human Splicing Finder: an online bioinformatics tool to predict splicing signals". Nucleic Acids Research. 37 (9): e67. doi: ... and that would define the splice junctions. Senapathy found that almost all splice junctions in eukaryotic genes contained stop ...

https://en.wikipedia.org/wiki/Periannan_Senapathy

Alternative splicing generates 2 transcript variants. GRCh38: Ensembl release 89: ENSG00000174233 - Ensembl, May 2017 GRCm38: ...

https://en.wikipedia.org/wiki/ADCY6

Alternative splicing occurs in this gene. GRCh38: Ensembl release 89: ENSG00000156453 - Ensembl, May 2017 GRCm38: Ensembl ...

https://en.wikipedia.org/wiki/PCDH1

Hollywood is a RNA splicing database containing data for the splicing of orthologous genes in different species. Alternative ... a comparative relational database of alternative splicing". Nucleic Acids Res. England. 34 (Database issue): D56-62. doi: ... splicing EDAS AspicDB Holste, Dirk; Huo George; Tung Vivian; Burge Christopher B (Jan 2006). "HOLLYWOOD: ...

https://en.wikipedia.org/wiki/Hollywood_(database)

2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103-12. doi:10.1038/sj.emboj.7600300. PMC 514918 ...

https://en.wikipedia.org/wiki/MBNL3

Also, a subgroup-specific alternative splicing further confirms the existence of distinct subgroups and highlights the ... April 2012). "Subgroup-specific alternative splicing in medulloblastoma". Acta Neuropathologica. 123 (4): 485-499. doi:10.1007/ ...

https://en.wikipedia.org/wiki/Medulloblastoma

2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103-12. doi:10.1038/sj.emboj.7600300. PMC 514918 ... Several alternatively spliced transcript variants have been described but the full-length natures of only some have been ...

https://en.wikipedia.org/wiki/MBNL2

The IVS1+5C plays a causative role in the activation of a cryptic splice donor site and the alternative splicing in intron 1, S ... This also supported the fact that the G/C SNP in the conserved splice junction of the MYH gene causes the alternative splicing ... When an authentic or real splice site is mutated, any cryptic splice sites present close to the original real splice site could ... and in alternative splicing research. The Shapiro-Senapathy algorithm has been used to determine the various aberrant splicing ...

https://en.wikipedia.org/wiki/Shapiro–Senapathy_algorithm

... alternative splicing；將穿插在內含子中的外顯子以選擇性的方

https://zh.wikipedia.org/wiki/人類基因組

Mu W, Cheng Q, Yang J, Burt DR (2002). "Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely ...

https://en.wikipedia.org/wiki/GABRA4

Alternative model of replicationEdit. One of the main competing models for cpDNA asserts that most cpDNA is linear and ... Tillich M, Krause K (July 2010). "The ins and outs of editing and splicing of plastid RNAs: lessons from parasitic plants". New ...

https://en.m.wikipedia.org/wiki/Chloroplast_DNA

"Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13". ...

https://en.wikipedia.org/wiki/Apolipoprotein_C4

... isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors". European Journal of Biochemistry / FEBS. 228 ... "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different ... Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[5]. The PAX8 gene is also ...

https://en.m.wikipedia.org/wiki/PAX8

... how new alternative spliced isoforms of genes arise, how gene scrambling in ciliates evolved, and how pervasive pan-RNA editing ...

https://en.wikipedia.org/wiki/Evolution_of_complexity

AR NTD antagonists are active against splice variants of the AR, which conventional AR antagonists are not, and AR NTD ... Monotherapy with the nonsteroidal antiandrogen bicalutamide is also used in the treatment of prostate cancer as an alternative ...

https://en.m.wikipedia.org/wiki/Antiandrogen

Bläser S، Jersch K، Hainmann I، Zieger W، Wunderle D، Busse A، Zieger B (July 2003). "Isolation of new splice isoforms, ... "Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation ...

https://ar.wikipedia.org/wiki/SEPT5

Other sources of amelogenin variation arise from the various isoforms of AMELX obtained from alternative splicing of mRNA ...

https://en.wikipedia.org/wiki/Amelogenin

Dna templated transcription, with some alternative splicing mechanism is the method of transcription. The virus exits the host ...

https://en.wikipedia.org/wiki/Deltapapillomavirus

Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing ... 1995). "Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms". Genomics. 25 (1): 93-9. doi ...

https://en.wikipedia.org/wiki/ADD1

Transcript variants utilizing alternative polyA signals exist.. Family[edit]. In mammals, seven recA-like genes have been ... Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. ...

https://en.wikipedia.org/wiki/Rad51

Evidence for alternative splicing of the transcripts of three non-allelic genes". The Journal of Biological Chemistry. 265 (33 ... "Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene ... "Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit". The American Journal ... "Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants". The Journal of Biological ...

https://en.wikipedia.org/wiki/Cav1.2

August 2006). "Archaeal pre-mRNA splicing: a connection to hetero-oligomeric splicing endonuclease". Biochem. Biophys. Res. ... An alternative hypothesis, the eocyte hypothesis, posits that Eukaryota emerged relatively late from the Archaea.[82] ... Lykke-Andersen J; Aagaard C; Semionenkov M; Garrett RA (September 1997). "Archaeal introns: splicing, intercellular mobility ... acetic acid or formic acid are used as alternative electron acceptors by methanogens. These reactions are common in gut- ...

https://en.m.wikipedia.org/wiki/Archaea

When consensus nucleotides and alternative ones were compared, homologous regions were "boxed" by the researchers.[4] The ... "beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site". Proceedings of the ...

https://en.wikipedia.org/wiki/TATA_box

Photographers typically use an alternative base-2 log unit, the stop, to describe light intensity ratios or dynamic range. ... splices, and lengths of fiber) are known, the overall link loss may be quickly calculated by addition and subtraction of ...

https://en.m.wikipedia.org/wiki/Decibel

... based on Adrian Krainer's insights into alternative splicing.[44]. *In 2014, Zachary Lippman publishes toolkit of gene ... RNA interference (RNAi) and small-RNA biology; DNA replication; RNA splicing; signal transduction; genome structure; non-coding ... Adrian Krainer, studies RNA splicing and developed nusinersen for treatment of spinal muscular atrophy (SMA). ...

https://en.wikipedia.org/wiki/Cold_Spring_Harbor_Laboratory

This most often occurs at improperly installed end connectors and splices. Also, the connector or splice must be properly ... Conformable cable is a flexible reformable alternative to semi-rigid coaxial cable used where flexibility is required. ...

https://en.wikipedia.org/wiki/Coaxial_cable

Lagerkvist, U. (1978.) "Two out of three: An alternative method for codon reading", PNAS, 75:1759-62. ...

https://en.wikipedia.org/wiki/Codon_degeneracy

He helped revitalize the classical relativistic alternative to general relativity known as Einstein-Cartan gravity. He is ... Nobel Prize in Physiology or Medicine in 1993 for the discovery of introns in eukaryotic DNA and the mechanism of gene-splicing ...

https://en.wikipedia.org/wiki/List_of_atheists_

Shi L, Luo C, Ahmed MK, Attaie AB, Ye X (2015) Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ... For this reason, 6-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis-van Creveld ... Six-fingered dwarfism' ('digital integer deficiency') was an alternative designation used for this condition when it was being ...

https://en.wikipedia.org/wiki/Ellis–van_Creveld_syndrome

"An alternative splicing event which occurs in mouse pachytene spermatocytes generates a form of DNA ligase III with distinct ... "DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation". PLoS Genet. 7 (6): ... A iniciación da tradución alternativa e os mecanismos de empalme ou splicing alteran as secuencias amino- e carboxilo-terminais ... "Homology and enzymatic requirements of microhomology-dependent alternative end joining". Cell Death Dis 6: e1697. PMC 4385936 ...

https://gl.wikipedia.org/wiki/LIG3

Dna templated transcription, specifically dsdna(rt) transcription, with some alternative splicing mechanism is the method of ...

https://en.wikipedia.org/wiki/Avihepadnavirus

Connecting two optical fibers is done by fusion splicing or mechanical splicing and requires special skills and interconnection ... An alternative approach is to use optical amplifiers which amplify the optical signal directly without having to convert the ... A mobile fiber optic splice lab used to access and splice underground cables ... Single-mode fiber cables are commonly available in 12 km (7.5 mi) lengths, minimizing the number of splices required over a ...

https://en.wikipedia.org/wiki/Fiber-optic_network

SMN1 and SMN2 are nearly identical except for a single nucleotide change in SMN2 resulting in an alternative splicing site ... M344 is a benzamide that shows promising results in fibroblast cell culture and increases level of splicing factors known to ... The hexanucleotide repeats are likely causing cellular toxicity after they are spliced out of the c9orf72 mRNA transcripts and ...

https://en.wikipedia.org/wiki/Epigenetics_of_neurodegenerative_diseases

The spliceosomes govern alternative splicing. Genes code for proteins in bits called exons. The bits can be joined together in ... This is the process of alternative splicing. Any unwanted versions of the protein get chopped up by proteases, and the chemical ...

https://simple.wikipedia.org/wiki/Ribosomal_RNA

Epigenetic control is often associated with alternative covalent modifications of histones.[57] The stability and heritability ... Other epigenetic changes are mediated by the production of different splice forms of RNA, or by formation of double-stranded ... Chromosomal regions can adopt stable and heritable alternative states resulting in bistable gene expression without changes to ... that allows the bacterium to randomly change its characteristics into six alternative states that could pave the way to ...

https://en.wikipedia.org/wiki/Epigenetic

... providing an alternative means of hydration[clarification needed]. Spruce can be used as a preventive measure for scurvy in an ...

https://en.wikipedia.org/wiki/Picea

Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. VAPA has ...

https://en.wikipedia.org/wiki/VAPA

The CFM International CFM56 uses an alternative approach: a single-stage, high-work unit. While this approach is probably less ... Ferrante, P. G.; Copiello, D.; Beutke, M., "Design and experimental verification of 'true zero-splice' acoustic liners in the ...

https://en.wikipedia.org/wiki/Turbofan

Genetics of alternative splicing evolution during sunflower domestication Chris C. R. Smith, Silas Tittes, J. Paul Mendieta, ... Prp8 impacts cryptic but not alternative splicing frequency Megan Mayerle, Samira Yitiz, Cameron Soulette, Lucero E. Rogel, ... Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome Sivan Osenberg, ... Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome Catherine Bélanger, Félix-Antoine Bérubé- ...

https://www.pnas.org/keyword/alternative-splicing?page=1

Are you looking for more information on alternative splicing modes? If so, read on to learn more about this basic genetics ... In this alternative splicing mode, a sequence may be simply retained or spliced out as an intron. This differs from the exon ... Alternative Donor Site. In this mode, a donor site, an alternative 5 splice junction, is used. This changes the 3 boundary of ... Alternative splicing, also referred to as differential splicing, is a process where the RNA exons of the RNA that is produced ...

http://www.brighthub.com/science/genetics/articles/89429.aspx

Protein for which at least two isoforms exist due to distinct pre-mRNA splicing events. ...

http://www.uniprot.org/keywords/25

Do similar forces act on all types of alternative splicing? Are the products generated by alternative splicing functional? Why ... Alternative splicing: current perspectives.. Kim E1, Goren A, Ast G.. Author information. 1. Department of Human Molecular ... Alternative splicing is a well-characterized mechanism by which multiple transcripts are generated from a single mRNA precursor ... By allowing production of several protein isoforms from one pre-mRNA, alternative splicing contributes to proteomic diversity. ...

https://www.ncbi.nlm.nih.gov/pubmed/18081010?dopt=Abstract

Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene ... mRNAs undergoing alternative splicing and alternative splicing events or to study the functional impact of alternative splicing ... Research Group dealing with alternative Splicing issues and mis-splicing in human diseases Alternative Splicing of ion channels ... Since then, alternative splicing has been found to be ubiquitous in eukaryotes. The "record-holder" for alternative splicing is ...

https://en.wikipedia.org/wiki/Alternative_splicing

genes undergo alternative splicing, generating multiple mRNAs from each gene (6,7). A large fraction of alternative splicing ... tissue-specific alternative splicing patterns By using a method that normalizes the number of observed alternative splicing ... Alternative splicing is commonly regulated by RNA-binding proteins that bind to sequence motifs located within the alternative ... Variation in alternative splicing across human tissues. (2004) by G Yeo, D Holste, G Kreiman, C B Burge ...

http://citeseer.ist.psu.edu/showciting?cid=5224110

Global regulation of alternative splicing during myogenic differentiation.. Bland CS1, Wang ET, Vu A, David MP, Castle JC, ... Recent genome-wide analyses have elucidated the extent of alternative splicing (AS) in mammals, often focusing on comparisons ... C) Summary of the different types of validated splicing transitions included within the data set of 117 splicing transitions. ( ... Clusters of splicing transitions with similar temporal patterns exhibit enrichment of specific motifs. Splicing transitions ...

https://www.ncbi.nlm.nih.gov/pubmed/20634200

Therefore, the study of alternative splicing opens new doors in the research to cure cancer and may provide new alternatives to ... Alternative splicing, an important mechanism for cancer Scientists discover several alterations in this cellular process with ... "Changes in alternative splicing provide cancer with new ways in which it can escape fine cellular regulation. ... "With this new study, we have discovered that changes in alternative splicing that occur in cancer impact protein functions in a ...

https://www.eurekalert.org/pub_releases/2017-09/spmd-asa092117.php

Contribute to HussainAther/awesome-alternative-splicing development by creating an account on GitHub. ... awesome-alternative-splicing. What is this?. This is a resource for software and information about alternative splicing. ... Alternative 5 splice site (A5SS): An alternative 5 splice junction (donor site) is used that changes the 3 boundary of the ... Alternative 3 splice site (A3SS): An alternative 3 splice junction (acceptor site) is used that changes the 5 boundary of ...

https://github.com/HussainAther/awesome-alternative-splicing

Alternative Splicing Annotation Project (ASAP) was a database for alternative splicing data maintained by the University of ... Lee, Christopher; Atanelov, Levan; Modrek, Barmak; Xing, Yi (2003-01-01). "ASAP: the Alternative Splicing Annotation Project". ... analysis and comparative genomics of alternative splicing in 15 animal species". Nucleic Acids Res. England. 35 (Database issue ... AspicDB RNA splicing Kim, Namshin; Alekseyenko Alexander V; Roy Meenakshi; Lee Christopher (Jan 2007). "The ASAP II database: ...

https://en.wikipedia.org/wiki/Alternative_Splicing_Annotation_Project

This process can lead to transcript diversification through the phenomenon of alternative splicing. Alternative splicing can ... Alternative Spliced Transcripts as Cancer Markers. Otavia L. Caballero,2 Sandro J. de Souza,2 Ricardo R. Brentani,1,2 and ... The effect of alternative splicing in expanding protein repertoire might partially underlie the apparent discrepancy between ... Many cancer-associated genes, such as CD44 and WT1 are alternatively spliced. Variation of the splicing process occurs during ...

https://www.hindawi.com/journals/dm/2001/184856/abs/

The alternative splicing of pre‐messenger ribonucleic acids is an important mechanism of proteomic diversity and plays a ... The stars in the splice form SF1 show the location of the RNA editing sites. (b) Alternative splicing can influence trait ... Figure 1. (a) Alternative splicing and other molecular processes may interact in complex ways to drive the evolution of trait ... dependent gain of alternative splice forms and biased duplication explain the relation between splicing and duplication. Genome ...

https://www.els.net/WileyCDA/ElsArticle/refId-a0026311.html

RNA alternative splicing was first noticed in adenoviruses in the 1970s. The researchers noticed that adenoviruses produced two ... Find out more about the role of RNA and RNA alternative splicing in protein synthesis and genetic disorders. ... Importance of RNA Alternative Splicing. RNA alternative splicing enables genetic efficiency and genetic diversity. On the ... RNA Alternative Splicing. First let us understand what splicing is. DNA directs the synthesis or production of RNA. This is ...

https://www.brighthub.com/science/genetics/articles/47494.aspx

... such as alternative splicing. We present a methodology for the automated annotation of genes and their alternatively spliced ... and combines the traditionally distinct gene annotation and alternative splicing detection processes in a comprehensive and ... At the core of the method is the splice graph, a compact representation of a gene, its exons, introns, and alternatively ... spliced isoforms. The putative transcripts are enumerated from the graph and assigned confidence scores based on the strength ...

http://www.jcvi.org/cms/publications/listing/abstract/article/gene-and-alternative-splicing-annotation-with-air/

... we will summarize how splicing regulators change and affect alternative splicing in this process. We will also discuss a novel ... we will summarize how splicing regulators change and affect alternative splicing in this process. We will also discuss a novel ... The significance of the dynamic control of alternative splicing in response to changes of calcium levels has been largely ... The significance of the dynamic control of alternative splicing in response to changes of calcium levels has been largely ...

https://www.frontiersin.org/articles/10.3389/fnins.2011.00141/full

... the splicing of other exons is less studied. The impact of amyloid peptide on the alternative splicing of exons 2, 3, and 6 ... Tau alternative splicing generates six isoforms in the adult human brain due to the inclusion or exclusion of exons 2, 3, and ... The failure in the splicing process of exon 10 generates a tauopathy, which can be carried out by the amyloid peptide; however ... and its 12 bp is used as an alternative splicing donor site. Exon 9 is subjected to alternative splicing in leukocytes but not ...

https://www.intechopen.com/books/update-on-dementia/alternative-splicing-and-alzheimer-s-disease

... has shown no evidence for alternative splicing in regions other than what is covered by these two primers (i.e., alternative ... Alternative splicing, muscle calcium sensitivity, and the modulation of dragonfly flight performance. James H. Marden, Gail H. ... Despite the fact that alternative splicing of TnT followed different ontogenetic patterns in the two morphs, they showed the ... In summary, we propose that dragonflies use alternative splicing of TnT to modulate the calcium sensitivity of their flight ...

https://www.pnas.org/content/96/26/15304?ijkey=a5e854f3ad0ef7a7a8bd211eef2bf69cce525ff8&keytype2=tf_ipsecsha

An estimated 60% of all human genes undergo alternative splicing, a highly regulated process that produces splice variants with ... or force selection of an alternative 5′ splice site (. c. ) by antisense oligonucleotides targeted to appropriate splice sites ... Aberrant splicing in thalassemic β-globin pre-mRNA or in certain splice mutants in CFTR is prevented, and correct splicing is ... describes a promising approach to RNA repair based on the use of antisense oligonucleotides to modulate alternative splicing ...

https://www.jci.org/articles/view/19547/figure/1

rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data. Proc Natl Acad Sci U S A ... Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense? Trends Biochem Sci. 2008;33(8 ... A slow RNA polymerase II affects alternative splicing in vivo. Mol Cell. 2003;12(2):525-532.. View this article via: PubMed ... Histone methyltransferase SETD2 modulates alternative splicing to inhibit intestinal tumorigenesis. Huairui Yuan,1 Ni Li,1 Da ...

https://www.jci.org/articles/view/94292

Meanwhile some early splicing changes are supplanted by new splicing changes introduced by the up-regulation of ELL2, a ... Some of the ,4000 splicing changes seen at 18 h after LPS stimulation persist into the late stages of antibody secretion, up to ... Inhibition of the mRNA-degradation function of Ire1 is correlated with further differences in the splicing patterns and a ... The mRNA-modifying function of phosphorylated Ire1 non-canonically splices Xbp1 mRNA and yet degrades other cellular mRNAs with ...

https://www.mdpi.com/1422-0067/19/12/3919

In this regard, alternative splicing (AS) is a key phenomenon contributing to the production of different mature transcr … ... A general definition and nomenclature for alternative splicing events PLoS Comput Biol. 2008 Aug 8;4(8):e1000147. doi: 10.1371/ ... In this regard, alternative splicing (AS) is a key phenomenon contributing to the production of different mature transcripts ... Our analysis reveals that a substantial part--in human more than a quarter-of the observed splicing variations are ignored in ...

https://pubmed.ncbi.nlm.nih.gov/18688268/?dopt=Abstract

... Author(s). Spiridonov, Alexey Nikolaevich; ... "Connections Between Alternative Transcription and Alternative Splicing in Mammals." Genome Biology and Evolution 2.0 (2010): ... The majority of mammalian genes produce multiple transcripts resulting from alternative splicing (AS) and/or alternative ... DownloadShabalina-2010-Connections between Alternative Transcription.pdf (319.7Kb). PUBLISHER_CC Publisher with Creative ...

https://dspace.mit.edu/handle/1721.1/73061

English to French translation of alternative splicing, a process that yields different protein products [DNA - Science (general ... alternative splicing, a process that yields different protein products. However, its now believed that the incredible ... alternative splicing, a process that yields different protein products. French translation: épissage alternatif. ... "alternative splicing" (a process that yields different protein products* from the same gene),. ...

https://www.proz.com/kudoz/english_to_french/science_general/885970-alternative_splicing_a_process_that_yields_different_protein_products.html

... is a co-transcriptional splicing process not only controlled by RNA-binding splicing factors, but also mediated by epigenetic ... alternative 5′-end splice site (A5SS), and alternative 3′-end splice site (A3SS). We attempt to elucidate functional and ... The constitutive splicing isoform is shown in the upper track in yellow and the alternative splicing isoform is shown in the ... Alternative splicing event detection across 34 normal and cancer cell types. a Sashimi plots visualizing a specific splice site ...

https://link.springer.com/article/10.1186/s13073-018-0538-1

... and alcohol consumption also regulates alternative splicing. Thus, investigations of alternative splicing are essential for ... Gene expression is regulated not only at the level of transcription but also through alternative splicing of pre-mRNA. In this ... we discuss some of the evidence suggesting that alternative splicing of candidate genes such as DRD2 (encoding dopamine D2 ... These reports suggest that aberrant expression of splice variants affects alcohol sensitivities, ...

https://www.mdpi.com/1660-4601/7/4/1448/htm

Regulating Alternative Splicing During Neural Development. 07/01/2007. Regulating Alternative Splicing During Neural ... Alternative splicing refers to the processing of an RNA transcript into different mRNA molecules by including some exons and ... Specific cell types often have signature patterns of alternative splicing.. Polypyrimidine-tract binding protein (PTB) is a ... Douglas Black (UCLA) and colleagues detail how alternative splicing is reprogrammed during neuronal development.. ...

https://www.cshlpress.com/press.tpl?pag=alternative_splicing_neuron

tags: alternative splicing x ecology x evolution x microbiology x The Scientist. » alternative splicing, ecology, evolution and ...

https://www.the-scientist.com/?articles.list/categoryNo/2625/category/The-Scientist/tagNo/1677,7,8,10/tags/alternative-splicing,ecology,evolution,microbiology/

tags: alternative splicing x immunology x culture x The Scientist. » alternative splicing, immunology and culture ...

https://www.the-scientist.com/?articles.list/tagNo/1677,12,3/tags/alternative-splicing,immunology,culture/

Neuronal Signaling through Alternative Splicing: Some Exons CaRRE... Message Subject. (Your Name) has forwarded a page to you ...

https://stke.sciencemag.org/content/2001/94/pe2/tab-pdf

Computational and experimental results indicate that a substantial fraction of alternative splicing events in humans result in ... but not all alternatively spliced transcripts produce functional proteins. ... It is frequently employed for autoregulation of proteins that affect the splicing process itself. Thus, alternative splicing ... Most human genes exhibit alternative splicing, but not all alternatively spliced transcripts produce functional proteins. ...

https://pubmed.ncbi.nlm.nih.gov/18380348/

Also referred to as cassette exon, this mode involves an exon that may be retained or spliced out of the primary transcript. (brighthub.com)
2010). Alternative Splicing and Evolution: Diversification, Exon Definition and Function. (brighthub.com)
There are numerous modes of alternative splicing observed, of which the most common is exon skipping. (wikipedia.org)
Exon skipping or cassette exon: in this case, an exon may be spliced out of the primary transcript or retained. (wikipedia.org)
Alternative donor site: An alternative 5' splice junction (donor site) is used, changing the 3' boundary of the upstream exon. (wikipedia.org)
Skipped exon or cassette exon (SE): An exon can be retained or spliced out of the primary transcript. (github.com)
Alternative 3' splice site (A3SS): An alternative 3' splice junction (acceptor site) is used that changes the 5' boundary of the downstream exon. (github.com)
Hollywood exon annotation database - A website for querying a relational database of constitutive and alternative human exons, by using biological and descriptive features. (github.com)
HS3D - Data set of Homo Sapiens Exon, Intron and Splice regions extracted from GenBank Rel.123. (github.com)
The structure of the splice form (i.e. exon skipping) is regulated by the presence of editing sites. (els.net)
Shown here is a cis ‐acting splicing regulatory element (an ISE) that regulates the skipping of an adjacent exon. (els.net)
Alekseyenko AV, Kim N and Lee CJ (2007) Global analysis of exon creation versus loss and the role of alternative splicing in 17 vertebrate genomes. (els.net)
Similarly, oligonucleotides induce skipping of a normal exon (gray) ( b ) or force selection of an alternative 5′ splice site ( c ) by antisense oligonucleotides targeted to appropriate splice sites. (jci.org)
In this study, we integrated AS events derived from RNA-seq with H3K79me2 ChIP-seq data across 34 different normal and cancer cell types and found the higher enrichment of H3K79me2 in two AS types, skipping exon (SE) and alternative 3′ splice site (A3SS). (springer.com)
Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. (jove.com)
Charlotte Sumner: So one very elegant way to treat SMA is to try and alter that process of alternative splicing of exon 7 of these RNAs that arise from SMN2. (dnalc.org)
Evaluated variants included all single-exon deletions, various multiple-exon deletions, intronic variants at the canonical splice donor and acceptor sequences, and variants that previously have been shown to affect messenger RNA (mRNA) splicing in carriers. (nature.com)
The exon 4 77G allele is present at a low frequency in Caucasoids and prevents splicing from high to low molecular weight isoforms. (bl.uk)
The exon 6 138G allele is found at a high frequency in Far Eastern populations and promotes splicing towards low molecular weight isoforms. (bl.uk)
Notably, the specific splicing modalities of intron retention and exon skipping displayed a significant bias toward increased retained introns and skipped exons, respectively, in the RTT brain compared with the WT brain. (pnas.org)
Furthermore, analyses of mutant constructs of dsx showed that a portion of the female-specific exon sequence was required for regulation of dsx pre-messenger RNA splicing. (sciencemag.org)
hnRNP A1 and hnRNP F modulate the alternative splicing of exon 11 of the insulin receptor gene. (doaj.org)
Exon 11 of the insulin receptor gene (INSR) is alternatively spliced in a developmentally and tissue-specific manner. (doaj.org)
By analyzing 143 colorectal samples using exon arrays, SLC39A14 , a divalent cation transporter, was identified as being aberrantly spliced in tumor samples. (mcponline.org)
In silico splicing factor binding analysis predicted SRSF1 to bind predominantly to the cancer associated exon 4B, hence, it was hypothesized that SRPK1 activates SRSF1 through phosphorylation, followed by SRSF1 binding to exon 4B and regulation of SLC39A14 splicing. (mcponline.org)
The two most common patterns were: (i) alternative donor-0 approximately 12 times of exon skips-alternative acceptor and (ii) several times ( approximately 8) of retained introns. (uniprot.org)
We found that the F-domain of zebrafish TRalphaA1 is encoded on a separate exon whose inclusion is regulated by alternative splicing, indicating a regulatory role of the F-domain in vivo. (sigmaaldrich.com)
Our analysis reaches the lower limits of the transcriptome, identifying a fundamental distinction between protein-coding and noncoding gene content: almost every noncoding exon undergoes alternative splicing, producing a seemingly limitless variety of isoforms. (dtu.dk)
Eukaryotic genes are composed of exon s and intron s, the latter being removed by RNA splicing before transcribed mRNA leaves the nucleus. (academic.ru)
Here, we identified novel Krüppel-like factor 4 (KLF4) splicing variants produced by exon skipping in human cancer cell lines as well as colon tumor tissues. (tennessee.edu)
In the presence of PTBP1 the critical PTBP2 exon is not recognized by the splicing machinery, resulting in the generation of PTBP2 mRNA containing a premature stop codon. (harvard.edu)
A common polymorphism in this gene has been shown to alter the expression of two splice variants of the channel, NaV1.1-5N (containing exon 5N) and NaV1.1-5A (containing exon 5A). (ucl.ac.uk)
Alternative splicing regulation of exon 5 and 6 is not well understood. (jcancer.org)
Firstly, we demonstrated that RNA sequences from EcoRI cleavage sites regulate alternative splicing of Ron exon 5 and 6. (jcancer.org)
Secondly, we showed that the ~30 nt RNA at upstream end of exon 4 and the ~33 nt RNA at downstream end of exon 7 also modulate splicing of exon 5 and 6. (jcancer.org)
Secondly, proteins promote or inhibit alternative exon splicing to regulate alternative splicing [ 3 ]. (jcancer.org)
A well-known isoform is RONΔ165, which is produced by exclusion of exon 11 in alternative splicing [ 7 ]. (jcancer.org)
Alternative splicing of exon 11 has been mostly studied by my group and Biamonti's group. (jcancer.org)
SRSF1 and hnRNP A1 were also shown that regulate cell invasion through regulating exon 11 splicing [ 8 , 9 ]. (jcancer.org)
many are alternatively spliced, which changes the exon content of transcripts and therefore the 'message' of the genes. (pasteur.fr)
RT-PCR or RPA demonstrated a predominant exon 1-containing, conventional APC splice-form in the developing RPE and retina or proliferative RPE cultures. (arvojournals.org)
These methods also demonstrated an increased level of exon 1-lacking APC splice-form in the mature RPE and retina or differentiated RPE cultures. (arvojournals.org)
In this report, we identify an exon-levelcis-eQTL (rs6471859) that regulates human DRG CA8 alternative splicing, producing a truncated 1,697bp transcript (e.g. (medworm.com)
Similarly, blocking the activity of cyclin L1, a cyclin partner of CDK11 p110 , inhibits the second step (cutting of the lariat-exon intermediate and ligation of adjacent exons) of pre-mRNA splicing in an in vitro assay ( 7 ). (asm.org)
Availability of many sequenced genomes of related organisms creates new opportunities for comparative analysis of exon-intron structure, alternative splicing and its regulation. (jbsdonline.com)
The PASA software [ 5 ] assembles and clusters spliced transcript alignments, providing transcript-based gene structures that are used to automatically improve existing gene annotations by adding untranslated regions (UTRs), adjusting intron and exon boundaries, and adding new models that represent alternative splicing, among its numerous other functions. (biomedcentral.com)

Protein for which at least two isoforms exist due to distinct pre-mRNA splicing events. (uniprot.org)
Alternative splicing is a well-characterized mechanism by which multiple transcripts are generated from a single mRNA precursor. (nih.gov)
By allowing production of several protein isoforms from one pre-mRNA, alternative splicing contributes to proteomic diversity. (nih.gov)
In 2021, it was discovered that the genome of adenovirus type 2, the adenovirus in which alternative splicing was first identified, was able to produce a much greater variety of mRNA than previously thought. (wikipedia.org)
By using next generation sequencing technology, researchers were able to update the human adenovirus type 2 transcriptome, and present a mind-boggling 904 unique mRNA, produced by the virus through a complex pattern of alternative splicing. (wikipedia.org)
Pro-Splicer - Alternative splicing database based on protein, mRNA, and EST Sequences. (github.com)
The production of alternatively spliced mRNAs is regulated by a system of intermolecular or transacting proteins like splicing activators (which promote splice site use) and splicing repressors (which reduce splice site use), that bind intermolecular or cis-acting sites on the mRNA. (brighthub.com)
On the negative side, abnormally spliced mRNA may contribute to a host of genetic disorders , including cancer. (brighthub.com)
We present a methodology for the automated annotation of genes and their alternatively spliced mRNA transcripts based on existing cDNA and protein sequence evidence from the same species or projected from a related species using syntenic mapping information. (jcvi.org)
In addition to describing the cis -acting RNA elements on the pre-mRNA molecules that respond to changes of intracellular calcium levels, we will summarize how splicing regulators change and affect alternative splicing in this process. (frontiersin.org)
However, a number of recent studies are revealing an intriguing new post-transcriptional level of regulation by calcium signaling: at the level of alternative pre-mRNA splicing. (frontiersin.org)
In both vertebrates and invertebrates, variability in TnT isoform composition arises from alternative splicing of mRNA ( 24 - 30 ). (pnas.org)
Aberrant splicing in thalassemic β-globin pre-mRNA or in certain splice mutants in CFTR is prevented, and correct splicing is restored, by oligonucleotides (dark red bars) that block aberrant 5′ or 3′ cryptic splice sites ( a ). (jci.org)
The mRNA-modifying function of phosphorylated Ire1 non-canonically splices Xbp1 mRNA and yet degrades other cellular mRNAs with related motifs. (mdpi.com)
large-scale changes in mRNA content and splicing patterns result. (mdpi.com)
Inhibition of the mRNA-degradation function of Ire1 is correlated with further differences in the splicing patterns and a reduction in the mRNA factors for snRNA transcription. (mdpi.com)
Remarkably, the expression of transcripts associated with SE was not significantly different from that of those not associated with SE, indicating the involvement of H3K79me2 in splicing has little impact on full mRNA transcription. (springer.com)
Gene expression is regulated not only at the level of transcription but also through alternative splicing of pre-mRNA. (mdpi.com)
Alternative pre-mRNA splicing makes a large contribution to proteomic diversity. (mdpi.com)
In alternative splicing, various potential splice sites of the pre-mRNA from a single gene are used in various combinations that lead to the translation of several functionally distinct protein isoforms from several different mRNA species. (mdpi.com)
Alternative splicing refers to the processing of an RNA transcript into different mRNA molecules by including some exons and excluding others. (cshlpress.com)
Computational and experimental results indicate that a substantial fraction of alternative splicing events in humans result in mRNA isoforms that harbor a premature termination codon (PTC). (nih.gov)
Another potential explanation for this startling observation is that cells may link alternative splicing and NMD to regulate the abundance of mRNA transcripts. (nih.gov)
An interesting feature of synaptojanin 1 is the presence of a long open reading frame in the 3' region of the brain mRNA that in non-brain tissues is joined to the coding region by alternative splicing, resulting in a shorter synaptojanin 1 form in brain and a longer form in peripheral tissues (Ramjaun, A. R., and McPherson, P. S. (1996) J. Biol. (biomedsearch.com)
Alternative splicing is the variation of the splicing process in which the exons of the primary gene transcript, the pre-mRNA , are arranged in alternative ways. (wikidoc.org)
in this case, instead of splicing out an intron, the intron is retained in the mRNA transcript. (wikidoc.org)
For example, when splicing mRNA, U1 binds to 5' GU and U2 binds to branch site (A), then U4,U5,U6 complex comes, and U6 replaces the U1 position. (wikidoc.org)
U3 is not involved in mRNA splicing. (wikidoc.org)
For many BRCA1 and BRCA2 variants (both intronic and exonic) an effect on mRNA splicing has been reported using either patient RNA or minigene analysis. (nature.com)
Together these findings have the potential to increase our general understanding of how signalling pathways regulate mRNA splicing, as well our specific knowledge of the role of CD45 splice isoforms in haematopoietic cell biology. (labome.org)
Yeo's work has focused on how genes produce copies of pre-mRNA, which then undergo a modification process called splicing. (xconomy.com)
Sex-specific alternative processing of doublesex (dsx) precursor messenger RNA (pre-mRNA) regulates somatic sexual differentiation in Drosophila melanogaster. (sciencemag.org)
During alternative splicing, which occurs after transcription and before translation, introns are removed and exons are spliced together to make an mRNA molecule. (blogspot.com)
Alternative RNA processing pathways result in the combining of different splice junctions that are present in pre-mRNA transcripts. (plantphysiol.org)
3) siRNA knock-down resulting in changes in pre-mRNA splicing;and (4) in silico prediction of known binding motifs. (labome.org)
Alternative splicing (AS) is a mechanism by which multiple types of mature mRNAs are generated from a single pre-mature mRNA. (uniprot.org)
It describes the theory of alternative pre-mRNA splicing in twelve introductory chapters and then introduces protocols and their theoretical background relevant for experimental research. (ellibs.com)
These 43 practical chapters cover: Basic methods, Detection of splicing events, Analysis of alternative pre-mRNA splicing in vitro and in vivo, Manipulation of splicing events, and Bioinformatic analysis of alternative splicing. (ellibs.com)
Durch alternatives „splicing" der mRNA entstehen unterschiedliche Isoformen, die Insertionen unterschiedlicher Länge in dem extrazellulären Anteil des Moleküls bewirken (v3-vl0). (springer.com)
To better understand how aberrant RNA processing events occur and lead to disease development, we studied cis and trans elements associated with survival motor neuron (SMN) pre-mRNA splicing. (umsystem.edu)
As a means to move more towards a translational approach to restore proper SMN pre-mRNA splicing, we developed a negatively-acting bifunctional RNA that was shown in several different assays to function both in vitro and in the more complex environment of the SMA mouse model in vivo. (umsystem.edu)
To further extend our understanding of pre-mRNA processing and the factors involved in its regulation, we utilize the Minute Virus of Mice (MVM) as a model system to study the fundamental process of alternative splicing. (umsystem.edu)
DEAD‑box helicase 41 (DDX41) is an RNA helicase and accumulating evidence has suggested that DDX41 is involved in pre‑mRNA splicing during tumor development. (spandidos-publications.com)
these enzymes are implicated in processes involving RNA, including transcription, splicing, RNA export, ribosome biogenesis, mRNA translation and RNA decay ( 2 - 5 ). (spandidos-publications.com)
Polprasert et al ( 16 ) identified somatic DDX41 mutations in myeloid neoplasms that resulted in loss of tumor suppressor function due to altered pre-mRNA splicing and RNA processing. (spandidos-publications.com)
Alternative splicing (or differential splicing ) is a process by which the exons of the RNA produced by transcription of a gene (a primary gene transcript or pre-mRNA) are reconnected in multiple ways during RNA splicing . (academic.ru)
Splicing alternativo - El splicing alternativo (alternative splicing en inglés) o empalme alternativo permite obtener a partir de un transcrito primario de mRNA o pre ARNm distintas moléculas de mRNA maduras. (academic.ru)
Repression of protein synthesis by microRNAs (miRNAs) and the generation of new protein isoforms by alternative pre-mRNA splicing are well known examples of posttranscriptional control. (harvard.edu)
Alternative pre-mRNA splicing provides a mechanism for generating protein diversity and contributes to the establishment of neuronal identity and to the unique function of mature neurons. (harvard.edu)
Specifically, they showed that an abundant neuron-specific miRNA called miR-124 directly targets mRNA encoding PTBP1, a global repressor of nervous system-specific alternative pre-mRNA splicing. (harvard.edu)
As a result, the change in the ratio of PTBP1 to PTBP2 in the developing nervous system leads to a global transition of the pattern of alternative pre-mRNA splicing. (harvard.edu)
Through the selection of alternative splice sites, different mRNA variant transcripts are produced from pre-mRNAs from the same gene. (plantcell.org)
Pre-mRNA splicing is required for gene expression in higher eukaryotes. (jcancer.org)
Pre-mRNA splicing occurs in a large RNA-protein complex called spliceosome, composed of U snRNP and more than 250 proteins [ 1 ]. (jcancer.org)
5' splice-site, 3' splice-site, branch-point and polypyrimidine tract sequences are required for pre-mRNA splicing. (jcancer.org)
Alternative splicing of Ron pre-mRNA produces different isoforms to be produced. (jcancer.org)
Along with WGD, alternative splicing (AS) of pre-mRNA is a fundamental molecular process that generates diversity in the transcriptome and proteome of eukaryotic organisms. (uni-koeln.de)
p54 promotes the use of the distal 5' splice site in E1A pre-mRNA alternative splicing, while the same site is suppressed by ASF/SF2 and SC35. (asm.org)
Results The genome-wide shRNA library screen identified Hnrnpll ( heterogeneous nuclear ribonucleoprotein L-like ) encoding a pre-mRNA splicing factor as a candidate metastasis suppressor gene. (bmj.com)

a large proportion of human genetic disorders result from splicing variants. (wikipedia.org)
Abnormal splicing variants are also thought to contribute to the development of cancer, and splicing factor genes are frequently mutated in different types of cancer. (wikipedia.org)
The "record-holder" for alternative splicing is a D. melanogaster gene called Dscam, which could potentially have 38,016 splice variants. (wikipedia.org)
Efforts are now being directed at establishing the full repertoire of functionally relevant transcript variants generated by alternative splicing, the specific roles of such variants in normal and disease physiology, and how alternative splicing is coordinated on a global level to achieve cell- and tissue-specific functions. (nih.gov)
GMAP and GSNAP - detect complex variants and splicing in short reads, SNP-tolerant. (github.com)
Furthermore, alternatively spliced transcripts may be extremely useful as cancer markers, since it appears likely that there may be striking contrasts in usage of alternatively spliced transcript variants between normal and tumor tissue than in alterations in the general levels of gene expression. (hindawi.com)
Here we show that the relative abundances of alternatively spliced transcripts of the calcium regulatory protein troponin T (TnT) vary widely in flight muscle of Libellula pulchella dragonflies, and that the mixture of TnT splice variants explains significant portions of the variation in muscle calcium sensitivity, wing-beat frequency, and an index of aerodynamic power output during free flight. (pnas.org)
An estimated 60% of all human genes undergo alternative splicing, a highly regulated process that produces splice variants with different functions. (jci.org)
These reports suggest that aberrant expression of splice variants affects alcohol sensitivities, and alcohol consumption also regulates alternative splicing. (mdpi.com)
In the brain, the regulation of splice variants modulates protein functions, which can ultimately affect behavior such as alcohol dependence. (mdpi.com)
The similar alternative splicing of two homologous proteins in a region of non-homology raises the possibility of evolutionary convergence and supports the significance of the variants. (biomedsearch.com)
Splicing also allows several protein variants to be expressed from a single gene and plays an essential role in development, tissue differentiation, and adaptation to environmental stress. (jove.com)
Long distance PCR analysis with a universal 5′-3′ end primer pair, allowing amplification of different splice variants, confirmed the presence of the splice variants. (frontiersin.org)
To assess translation of the alternatively spliced transcripts we determined protein expression of NOX4 by using a specific antibody recognizing a conserved region in all variants. (frontiersin.org)
Current interpretation guidelines for germline variants in high-risk cancer susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense variants and variants in the canonical splice site sequences of BRCA2 , to be associated with high cancer risk. (nature.com)
For accurate classification of variants it is therefore essential that alternative transcripts are identified and functionally characterized. (nature.com)
We systematically evaluated a large panel of human BRCA2 variants for the production of alternative transcripts and assessed their capacity to exert BRCA2 protein functionality. (nature.com)
Predicted loss-of-function (LoF) variants in BRCA1 and BRCA2 , such as nonsense variants, frame-shifting indels, and variants at the canonical splice sites, are considered to be associated with high cancer risk and carriers and their family members are managed accordingly. (nature.com)
The ACMG/AMP guidelines pose that the Pathogenic Very Strong (PVS1) code for predicted loss-of-function variants (nonsense, frameshift, canonical ±1 or 2 splice sites, initiation codon, single or multiexon deletion) may no longer be valid if a variant induces an in-frame deletion or insertion that leaves the functional domains of the protein intact. (nature.com)
CD45 phosphatase activity is required to initiate as well as modulate TCR and BCR signalling, and this function depends on the particular splice variants of CD45 expressed. (labome.org)
Here's an example of splice variants of the human triose phosphate isomerease gene (TPI1). (blogspot.com)
Most of these splice variants would produce various isoforms of triose phosphate isomerase if the RNA variant were translated. (blogspot.com)
Most of the variants are due to splicing errors (mistakes). (blogspot.com)
Most of the labs that work on these splice variants are proponents of massive alternative splicing. (blogspot.com)
The minority view, which I support, is that almost all of those splice variants are due to processing errors and the average protein-coding gene produces a single functional polypeptide. (blogspot.com)
Sequence analysis demonstrated that the longest form codes for transmembrane CD83 (CD83-TM), whereas the smaller transcripts are splice variants of full-length CD83, coding for putative soluble CD83 proteins. (jimmunol.org)
The baboon results showing an opposing pattern and mechanism of regulation suggested a dissimilar function for FADS3 AT compared to classical desaturases, and PTB knockdown results suggested possible dominant negative inhibition by FADS splice variants. (cornell.edu)
The physiological function of these variants is likely important, because we find that the distribution of EF-hand splice variants is strikingly heterogeneous in the human brain, varying both across regions and during development. (jneurosci.org)
Of particular interest are α 1A splice variants within structural determinants of CaM-channel regulation. (jneurosci.org)
Additionally, we show that the distribution of α 1A EF-hand splice variants is highly variable across the human brain in both space and time, suggesting widespread usage of this molecular switch. (jneurosci.org)
Most Arabidopsis pollen transcriptome studies have used the ATH1 microarray, which does not assay splice variants and lacks specific probe sets for many genes. (plantphysiol.org)
For most alternatively spliced genes, the ratio of variants in pollen and seedling was similar, except for some encoding proteins involved in RNA splicing. (plantphysiol.org)
Gansauge F, Gansauge S, Zobywalski A, Scharnweber C, Link KH, Nussler AK, and Beger HG (1995) Differential expression of CD44 splice variants in human pancreatic adenocarcinoma and in normal pancreas. (springer.com)
Furthermore, a number of cis-acting human gene variants that modulate alternative splicing have been implicated in a variety of human metabolic diseases. (ovid.com)
Alternatively spliced variants may result in different RPTPρ isoforms. (pubmedcentralcanada.ca)
Splice variants of GSK3β exhibit differential activity towards glycogen synthase. (sigmaaldrich.com)
We presently utilized array analysis to define the global expression pattern of genes, including spliced variants, modified by the cytokines interleukin (IL)-1β + interferon (IFN)-γ and tumor necrosis factor (TNF)-α + IFN-γ in primary rat β-cells. (diabetesjournals.org)
Moreover, neither the Apochip nor usually utilized cDNA arrays ( 7 - 9 ) have the ability to identify splice variants of genes. (diabetesjournals.org)
This project used whole cell voltage clamp of heterologously-expressed NaV1.1-5A and 5N to compare the intrinsic properties of the splice variants, their modulation by AEDs, their interaction with a published epilepsy mutation (R1648H), their modulation by G-proteins and how they responded to co-expression of sodium channel β subunits. (ucl.ac.uk)
The main finding was that, although when recorded at physiological temperatures the splice variants produced macroscopic currents that were similar for many parameters, they differed in the rate at which they recovered from inactivation, with NaV1.1-5N recovering more rapidly than NaV1.1-5A. (ucl.ac.uk)
Although several other subtle differences were seen, no consistent differences were found in interactions between the splice variants and G-proteins or β subunits. (ucl.ac.uk)

At the core of the method is the splice graph, a compact representation of a gene, its exons, introns, and alternatively spliced isoforms. (jcvi.org)
Tau alternative splicing generates six isoforms in the adult human brain due to the inclusion or exclusion of exons 2, 3, and 10. (intechopen.com)
Comparative analysis of the number of alternative nucleotides, isoforms, and introns per locus in genes with different types of alternative events suggests that ATI and ATT contribute to the diversity of human and mouse transcriptome even more than AS. (mit.edu)
A key question in AD is the transition from controlled to compulsive drinking, and development of dependence may be related not only to gene expression modulated through transcriptional regulation but also through alternative splicing of genes, which may produce functionally distinct isoforms. (mdpi.com)
One explanation for the abundance of PTC-containing isoforms is that they represent splicing errors that are identified and degraded by the NMD pathway. (nih.gov)
The alternative forms of mature Messenger rna produce Protein isoforms in which one part of the isoforms is common while the other parts are different. (jove.com)
We describe here for the first time that NOX4 undergoes extensive alternative splicing in human hearts which gives rise to the expression of different enzyme isoforms. (frontiersin.org)
Symptoms in DM1 arise from a novel RNA-mediated disease mechanism that involves the inhibition of alternative splicing regulator proteins by mutant DMPK -CUG exp transcripts, resulting in inappropriate expression of developmental splice isoforms in adult tissues 2 , 3 , 4 . (nature.com)
However, some variant alleles produce alternative transcripts that encode (partially) functional protein isoforms leading to possible incorrect risk estimations. (nature.com)
Multiple alternative transcripts encoding (partially) functional protein isoforms were identified (e.g. (nature.com)
Recently, however, it was established that some naturally occurring alternative transcripts of BRCA1 and BRCA2 encode protein isoforms with residual tumor suppressive activity. (nature.com)
Although alternative transcripts have been described for both BRCA1 and BRCA2 , 10 , 11 a systematic analysis of the functionality of encoded protein isoforms has not been performed, which complicates the application of these variant classification guidelines. (nature.com)
Using a Jurkat cell line in which expression of CD45 isoforms is sensitive to PMA stimulation, we performed a limited RNAi screen which identified HNRPLL as a major regulator of CD45 alternative splicing. (labome.org)
We also characterized the RNA-Seq dataset to inventory transcript isoforms and infer alternative splicing during different stages of its development. (apsnet.org)
Alternative splicing results in RET isoforms with distinct trafficking properties. (biomedsearch.com)
RET is alternatively spliced to encode multiple isoforms that differ in their C-terminal amino acids. (biomedsearch.com)
So far, the vast majority of protein-coding genes produce a single protein but there are some classic cases of alternative splicing where a given gene produces several different protein isoforms, each of which has a specific function. (blogspot.com)
This gives rise to the meta-claim that almost all human genes are subject to alternative splicing and almost all human genes produce 5-10 different functional protein isoforms. (blogspot.com)
Just fascinating - may I ask do you think there is a spectrum with splicing errors always producing multiple isoforms but some are useful and hence can be seen by natural selection and hence selected to become more prevalent while others are detrimental and so are selected against and between these two extremes a blur of neutral or nearly isoforms which can exist to a certain extent within a tissue/cell type. (blogspot.com)
At least three different α-synuclein isoforms have been described as products of alternative splicing. (springer.com)
In particular, alternative splicing generates multiple transcript isoforms from a single gene by selectively removing introns. (forschung-sachsen-anhalt.de)
Genes encoding proteins involved in protein-protein interactions tend to be alternatively spliced more often than genes encoding non-interacting proteins, although there is no significant difference in the number of isoforms of alternatively spliced genes. (biomedcentral.com)
Filtering for functional isoforms satisfying biological constraints and accountung for uneven EST coverage allowed us to describe differences in alternative splicing of genes from different functional categories. (biomedcentral.com)
The observations seem to be consistent with expectations based on current biological knowledge: less isoforms for ribosomal and signal transduction proteins, and more alternative splicing of interacting and cell cycle proteins. (biomedcentral.com)
Here we apply the IsoformCounter algorithm that constructs the splicing graph aligned to the genomic sequence and computes the number of possible protein isoforms. (biomedcentral.com)
We observed that the fraction of genes with less alternative splicing (one or two protein isoforms per gene) is higher in "Small GTPase-mediated signal transduction" and "Ribosome" classes, and lower in the "DNA replication and chromosome cycle" class, compared to the average distribution. (biomedcentral.com)
Alternative splicing produces two protein isoforms. (academic.ru)
Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype. (rupress.org)
Furthermore, CDK12 isoforms alter the splicing pattern of an E1a minigene, and the effect is potentiated by the cyclin domain of cyclin L1. (asm.org)
When expression of CDK12 isoforms is perturbed by small interfering RNAs, a reversal of the splicing choices is observed. (asm.org)
Furthermore, overexpression of CDK12 isoforms, cyclin L1, and cyclin L2 affects the splicing pattern of the E1a minigene, and perturbation of CDK12 expression changes the splicing pattern in a reverse manner. (asm.org)
We employed the Program to Assemble Spliced Alignments (PASA) to identify and analyze alternatively spliced isoforms in both species. (biomedcentral.com)
While alternative splicing has the potential to create many RNA isoforms from a single locus, the majority of loci generate only two or three isoforms and transcript support indicates that these isoforms are generally not rare events. (biomedcentral.com)

Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. (wikipedia.org)
Consequently, the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions (see Figure). (wikipedia.org)
Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes. (wikipedia.org)
The production of alternatively spliced mRNAs is regulated by a system of trans-acting proteins that bind to cis-acting sites on the primary transcript itself. (wikipedia.org)
Such proteins include splicing activators that promote the usage of a particular splice site, and splicing repressors that reduce the usage of a particular site. (wikipedia.org)
Researchers found that the primary RNA transcript produced by adenovirus type 2 in the late phase was spliced in many different ways, resulting in mRNAs encoding different viral proteins. (wikipedia.org)
RNA alternative splicing, a common occurrence in eukaryotes, is a process by which a single gene is able to encode several different proteins. (brighthub.com)
So, in brief, a single gene, by the process of RNA alternative splicing, is able to encode a number of different proteins. (brighthub.com)
This reprogramming of splicing by the switch in PTB proteins adds a new layer of genetic change determining the function of a post-mitotic neuron. (cshlpress.com)
Most human genes exhibit alternative splicing, but not all alternatively spliced transcripts produce functional proteins. (nih.gov)
It is frequently employed for autoregulation of proteins that affect the splicing process itself. (nih.gov)
Alternative splicing represents a mechanism by which a single gene can be used to create proteins with different functions. (sciencemag.org)
The regulation and selection of splice sites is done by Serine/Arginine-residue proteins, or SR proteins . (wikidoc.org)
this is the only method of splicing which can produce an alternative N-terminus domain in proteins. (wikidoc.org)
Splicing is mediated by the spliceosome-a complex of proteins and RNA called small nuclear ribonucleoproteins (snRNPs). (jove.com)
PUBLIC HEALTH RELEVANCE: In most genes in higher organisms, the pieces of DNA that code for proteins (known as exons) are separated by intervening regions known as introns, which need to be removed through a process called gene splicing so that the exons can be joined ("spliced") together and the encoded protein can be made. (labome.org)
Serine/arginine rich (SR) proteins, that are described to be involved in alternative splicing, are also up-regulated in pH5,5. (aacrjournals.org)
To investigate the specific SR proteins involved in VEGF splicing, we used siRNA to block separately some SR proteins that have binding domains in VEGF, and determined the net effects of this approach in VEGF isoform expression. (aacrjournals.org)
Thus, a single gene, or transcription unit, can code for multiple proteins or other gene products, depending on how the exons are spliced back together. (blogspot.com)
Thus, DHP and CRMP proteins are derived by different processes in flies (tissue-specific, alternative splicing of paralogous exons of a single gene) and vertebrates (tissue-specific expression of different genes), indicating that diverse genetic mechanisms have mediated the evolution of this protein family in animals. (genetics.org)
Specifically, this thesis explains how splice variation dictates the biological functions of interleukin-22 (IL-22) binding protein (IL-22BP) and interferon lambda 4 (IFNλ4), two proteins that participate in key cytokine responses to infection and inflammation. (washington.edu)
The SPLICE-STEM project aims at investigating the role of proteins controlling gene expression, more precisely the expression of RNA molecules which are produced from the genomic DNA, and their impact on the maintenance of stem cell properties and identity. (europa.eu)
Although we initially wanted to focus on protein involved in a mechanism called alternative splicing, our data pointed out that several RNA binding proteins encoding ribosomal proteins (RP) and ribosome associated proteins (RAP) are highly expressed in ESC but not in their daughter cells called differentiated cells. (europa.eu)
In conclusion, this CIG grant has enabled the identification of novel RNA binding proteins affecting alternative splicing decisions and impacting stem cell behaviour in vitro. (europa.eu)
However, soluble forms of cell surface proteins can also result from alternative splicing as reported for several members of the Ig superfamily, e.g. (jimmunol.org)
A multi-institutional group of researchers led by Children's Hospital of Philadelphia (CHOP) has linked a strong cancer driver gene to changes in proteins that regulate alternative splicing. (chop.edu)
Alternative splicing is an essential process that allows for one gene to code for many gene products, based on where the RNA is cut, or spliced, before being translated into proteins. (chop.edu)
SRPK2 regulates the phosphorylation of the constitutive and alternative splicing factors the SR proteins. (harvard.edu)
Combining intact protein measurement with near exhaustive peptide analysis of five proteins from human cells allowed detection of N-terminal modifications and one alternatively spliced transcript ( 13 ). (mcponline.org)
This process is called splicing and involves conserved splicing signals in the intron and the assembly of a large complex of around 200 proteins. (hutton.ac.uk)
In humans there are approximately 30,000 genes and it is estimated that ~95% of human protein-coding genes undergo alternative splicing to generate up to 150,000-200,000 mRNAs and proteins through alternative splice site usage. (hutton.ac.uk)
Following transcription, precursor mRNAs undergo splicing to remove introns and join exons to generate mRNAs for translation into proteins. (plantcell.org)
Alternative splicing is a process that can produce various mature mRNAs encoding different proteins with different function or even opposite functions from a single gene. (jcancer.org)
SR proteins, a family of splicing regulators with one or two RNA recognition motifs (RRMs) at the N-terminus and an arg/ser-rich at the C-terminus, function in both constitutive and alternative splicing. (uni-koeln.de)
The distribution of phosphorylated SR proteins and alternative splicing are regulated by RANBP2. (nextbio.com)
For example, CDK11 p110 colocalizes with the general splicing factor RNPS1 ( 20 ) and serine- and arginine-rich (SR) proteins, such as 9G8 ( 12 ). (asm.org)

Examples of alternative splicing in immunoglobin gene transcripts in mammals were also observed in the early 1980s. (wikipedia.org)
FAST DB/Easana - Friendly Alternative Splicing and Transcripts Database. (github.com)
In this regard, alternative splicing (AS) is a key phenomenon contributing to the production of different mature transcripts from the same primary RNA sequence. (nih.gov)
The majority of mammalian genes produce multiple transcripts resulting from alternative splicing (AS) and/or alternative transcription initiation (ATI) and alternative transcription termination (ATT). (mit.edu)
Alternative splicing involves the splicing together of other possible sets of Exons during the processing of some, but not all, transcripts of the gene. (jove.com)
Representatives of the newly identified genes and predicted alternatively spliced transcripts were experimentally validated. (apsnet.org)
Among these, the generation of alternatively-spliced transcripts is an efficient and dynamic way to increase transcriptional and proteomic diversity. (washington.edu)
On the other hand, a considerable number of ESTs seem to arise from experimental artifacts (genome contamination, unspliced transcripts, computational errors leading to mis-alignment and clustering ESTs from paralogous genes, etc.) or errors of the cellular splicing machinery itself (so-called aberrant splicing). (biomedcentral.com)
The adjacent FADS3 gene is a putative desaturase, and both FADS2 and FADS3 have alternative transcripts (AT) of unknown function. (cornell.edu)
Knowing the identity, relative abundance, and splicing patterns of pollen transcripts will improve our understanding of pollen and allow investigation of tissue-specific splicing in plants. (plantphysiol.org)
The relative expression levels of these TRalpha transcripts differ in a tissue-specific manner suggesting that zebrafish uses both alternative splicing and differential expression of TRalpha genes to diversify the cellular response to THs. (sigmaaldrich.com)
This revealed extensive alternative splicing in clock genes and dynamic changes in alternatively spliced transcripts. (plantcell.org)
Interestingly, alternative splicing may play a role beyond creating novel combinations of transcripts that expand the proteome. (biomedcentral.com)

In mRNAs after splicing, one of two exons is retained, but not both. (brighthub.com)
Both of these mechanisms give more variety in the mRNAs derived from a gene, and are found in combination with alternative splicing. (brighthub.com)
A high proportion of cancerous cells have abnormally spliced mRNAs found in them. (brighthub.com)
Mutually exclusive exons: One of two exons is retained in mRNAs after splicing, but not both. (wikipedia.org)
These are subsequently excised and the exons are spliced together to form mature mRNAs. (hindawi.com)
In RNA alternative splicing, exons are joined in many different ways and give rise to many different mRNAs. (brighthub.com)
Analysis of mRNAs from three brain regions at different developmental stages revealed that alternative splicing of synaptojanin 2 is a developmentally late event, occurring only after the first postnatal week after the generation of neurons and initial synaptogenesis. (biomedsearch.com)
We review how the interplay between miRNA-based gene silencing of mRNAs and alternative splicing of pre-mRNAs are crucial post-transcriptional mechanisms that occur in liquid-like compartments to regulate cellular stress response. (biologists.org)
In my opinion, the best way to ensure you are silencing the two alternative spliced mRNAs separately is to design your siRNA by eye. (protocol-online.org)
I have designed all of mine like this and can very specifically knock down alternatively spliced mRNAs. (protocol-online.org)
Both 5' and 3' splice sites varied, and in addition, the transcript contained multiple polyadenylation sites, giving different 3' ends for the processed mRNAs. (academic.ru)
SYN: RNA s.. alternative s. different ways of assembling exons to produce different mature mRNAs. (academic.ru)
Does miR-124, which targets several hundred mRNAs, control the levels of other splicing regulators? (harvard.edu)

Only a handful of studies have explored the underlying mechanisms by which calcium signaling regulates alternative splicing. (frontiersin.org)
An additional DNA code or other regulating process, which regulates the alternative splicing. (wikidoc.org)
An F-domain introduced by alternative splicing regulates activity of the zebrafish thyroid hormone receptor alpha. (sigmaaldrich.com)
Therefore, miR-124 regulates nervous system alternative splicing by controlling the levels of PTBP1. (harvard.edu)

Using multiple promoters, when described properly, is not alternative splicing, but a transcriptional regulation mechanism. (brighthub.com)
However, each gene can lead to several RNA molecules through alternative splicing, an essential mechanism for multiple biological processes that can be altered in disease conditions. (eurekalert.org)
The alternative splicing of pre‐messenger ribonucleic acids is an important mechanism of proteomic diversity and plays a significant role in determining a protein's structure, function and localisation. (els.net)
Nonsense‐mediated decay (with its conserved machinery and targets across large evolutionary time spans) can act as a quality control mechanism on alternative splicing to guard the cell against potentially deleterious gene products. (els.net)
Collectively, our work for the first time reveals that H3K79me2 plays functional and regulatory roles through a co-transcriptional splicing mechanism. (springer.com)
This mechanism, which we call "Regulated Unproductive Splicing and Translation" (RUST), has been experimentally shown to regulate expression of a wide variety of genes in many organisms from yeast to human. (nih.gov)
O'Donovan and Darnell discuss a mechanism by which neurons can alter channel splicing in response to neuronal activity through a signal generated by calcium and calcium/calmodulin-dependent kinase activity. (sciencemag.org)
Thus, the overall objectives of this proposal are: (1) to demonstrate that alternative splicing is a novel mechanism involved in regulating cellular cholesterol synthesis and uptake as well as plasma LDL levels;and (2) to identify non-genetic and genetic modifiers of this process. (labome.org)
Furthermore, in the last few years accumulating evidence has pointed to alternative splicing as a crucial mechanism in the development of neurodegenerative disorders. (springer.com)
Thus, alternative splicing is a major gene regulatory mechanism that limits IFNλ4 bioactivity during infection, causing the genetically linked IFNλ3 to be the dominant antiviral effector instead. (washington.edu)
Alternative splicing is a major mechanism of generating protein diversity in higher eukaryotes. (biomedcentral.com)
Thus alternative splicing emerges as a major mechanism of generating protein diversity. (biomedcentral.com)
In this review, we highlight recent studies examining alternative splicing as a modulator of cellular cholesterol homeostasis and as an underlying mechanism of dyslipidemia. (ovid.com)
To elucidate the mechanism involved in KLF4 alternative splicing, we developed KLF4 minigene system and found that RNA binding motif protein 5 (RBM5) plays an important role in KLF4 splicing, as assessed by gain and loss of functional studies. (tennessee.edu)
We propose that temperature-associated alternative splicing is an additional mechanism involved in the operation and regulation of the plant circadian clock. (plantcell.org)
What mechanism(s) can protect these excised introns from rapid degradation after splicing? (biomedcentral.com)

flotilla - reproduce machine learning analysis of gene expression and alternative splicing data. (github.com)
In studies of the evolutionary landscape of alternative splicing (in multiple tissues across hundreds of millions of years of evolutionary time span), the identity of the species is the primary source of the variability in overall alternative splicing patterns, whereas tissue type is the main source for overall gene expression patterns. (els.net)
Alternative splicing in eukaryotes plays an important role in regulating gene expression by selectively including alternative exons. (frontiersin.org)
Together, the results imply coordinate evolution of AS and alternative transcription, processes that occur concomitantly within gene expression factories. (mit.edu)
Thus, alternative splicing and NMD act together to play an important role in regulating gene expression. (nih.gov)
Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. (alibris.com)
Here, we show widespread aberrations in gene expression and anomalous patterns of alternative splicing, specifically when neurons of RTT mice are stimulated. (pnas.org)
Here we reveal an aberrant global pattern of gene expression, characterized predominantly by higher levels of expression of activity-dependent genes, and anomalous alternative splicing events, specifically in response to neuronal activity in a mouse model for RTT. (pnas.org)
Here, we analyzed transcriptome-wide alterations in gene expression and alternative splicing ( AS ) of etiolated seedlings undergoing photomorphogenesis upon exposure to blue, red, or white light. (plantcell.org)
Alternative splicing plays crucial roles by influencing the diversity of the transcriptome and proteome and regulating protein structure/function and gene expression. (plantcell.org)
One of the goals of this dissertation is to understand how two fundamen- tal biological processes, genome duplication and alternative splicing, factor into the regulation of gene expression. (uni-koeln.de)

RNA splicing patterns in antibody-secreting cells are shaped by endoplasmic reticulum stress, ELL2 (eleven-nineteen lysine-rich leukemia gene 2) induction, and changes in the levels of snRNA s. (mdpi.com)
Specific cell types often have signature patterns of alternative splicing. (cshlpress.com)
Dr. Black and colleagues now show that a switch in expression between PTB and nPTB induces changes in a large number of alternative splicing patterns during neuronal development. (cshlpress.com)
This happens in many cancers, including prostate cancer, which is associated with shifts in splicing patterns. (chop.edu)
Alternative splicing patterns in pollen and seedling were highly correlated. (plantphysiol.org)
This study highlights the robustness of splicing patterns in plants and the importance of ongoing annotation and visualization of RNA-Seq data using interactive tools such as Integrated Genome Browser. (plantphysiol.org)
Changes in splicing patterns affect protein structure and function. (springer.com)
Key questions in alternative splicing in plants are what are the cis sequences and the trans-acting protein factors which determine splice site selection, how do the relative levels of factors in different cells (the 'cellular code' determine patterns of alternative splicing in different genes and is alternative splicing of genes involved in the same pathway co-ordinated? (hutton.ac.uk)
However, the regulatory network that underlies the transition from non-neuronal to nervous system-specific alternative splicing patterns is poorly understood. (harvard.edu)
Alternative splicing of the porcine glycogen synthase kinase 3β (GSK-3β) gene with differential expression patterns and regulatory functions. (sigmaaldrich.com)
About 38 to 74% of human genes are subject to alternative splicing ( 3 , 14 , 15 ), and mutations that affect splicing patterns are the underlying causes of some cancers and neurodegenerative diseases ( 10 , 29 ). (asm.org)

The gene encoding the thyroid hormone calcitonin was found to be alternatively spliced in mammalian cells. (wikipedia.org)
Loss of CCAR-1 function during C. elegans embryogenesis results in dysregulated alternative splicing of unc-52 (the homolog of mammalian perlecan) and hemidesmosome disruption. (biologists.org)
The standard mammalian gene is transcribed to produce a precursor RNA that is subsequently processed by splicing out introns to produce a mature RNA. (blogspot.com)
Although at least half, and probably more, of mammalian genes are alternatively spliced, it was not clear, whether the frequency of alternative splicing is the same in different functional categories. (biomedcentral.com)
The expression in a single cell of four distinct protein species with variable STP-rich regions and cytoplasmic tails represents an interesting example of the use of alternative splicing to provide variability in a mammalian protein. (rupress.org)

Alternative splicing, also referred to as differential splicing, is a process where the RNA exons of the RNA that is produced by transcription of a gene are reconnected in several different ways during RNA splicing. (brighthub.com)
JunctionSeq - identify differential splice junctions. (github.com)
SplicingCompass - detect differential splicing using RNA-Seq data. (github.com)
It has been observed that an alteration of the intracellular calcium level can lead to differential expression of numerous alternative exons (reviewed in Xie, 2008 ). (frontiersin.org)
The tight linkage between AS in CDSs and ATT in 3′ UTRs suggests that variability of 3′ UTRs mediates differential translational regulation of alternative protein forms. (mit.edu)
These results suggest that alternative splicing of APC gene leads to differential APC expression with potential unique functions. (arvojournals.org)
These findings and the differential tissue distribution of p54 suggest that this novel SR protein may participate in regulation of alternative splicing in a tissue- and substrate-dependent manner. (asm.org)

H-DBAS - Human-transcriptome DataBase for Alternative Splicing. (github.com)
Deep RNA sequencing of the cardiac transcriptome indicated extensive alternative splicing of the NOX4 gene in heart failure as compared to samples from healthy donor hearts. (frontiersin.org)
In total, the current study provides evidence that alternative splicing plays a key role in transcriptome regulation and proteome diversification in plant-pathogenic oomycetes. (apsnet.org)
With the advent of whole-transcriptome sequencing, or RNA-seq, we now know that alternative splicing is a generalized phenomenon, with nearly all multiexonic genes subject to alternative splicing. (ovid.com)
The present findings showed that DDX41 regulated the cancer cell transcriptome at both the transcriptional and alternative splicing levels. (spandidos-publications.com)

Citation Query Variation in alternative splicing across human tissues. (psu.edu)
Variation in alternative splicing across human tissues. (psu.edu)
SingleSplice - detect biological variation in alternative splicing within a population of single cells. (github.com)
Variation of the splicing process occurs during tumor progression and may play a major role in tumorigenesis. (hindawi.com)
There are evolutionarily conserved features of the splicing pattern at the 5′ end of the molecule ( 27 , 29 ), thus indicating that isoform variation in TnT has deep evolutionary roots, and perhaps evolutionarily conserved functional effects. (pnas.org)
This approach allows us to test for associations between TnT transcript variation, muscle calcium sensitivity, and contractile performance that are independent of the developmental and physiological context in which TnT alternative splicing occurs. (pnas.org)
As a plethora of different transcript forms is available in databases, a first step to uncover the biology that drives AS is to identify the different types of reflected splicing variation. (nih.gov)
This nomenclature univocally and dynamically assigns a specific "AS code" to every possible pattern of splicing variation. (nih.gov)
Recently, alternative splicing of the two most critical regulators of intracellular cholesterol, 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR), the rate-limiting enzyme of cholesterol biosynthesis, and the LDL receptor (LDLR), responsible for uptake of LDL, have been associated with variation in plasma LDL as well as with the magnitude of LDL reduction by simvastatin. (labome.org)
These findings lead to the hypotheses that intracellular cholesterol levels regulate splicing factor(s) to generate coordinated changes in alternative splicing of multiple genes involved in cholesterol synthesis and uptake, and that variation in this process is a determinant of cellular and plasma cholesterol metabolism. (labome.org)
Demonstration of the role of alternative splicing in the regulation of cholesterol metabolism and identification of genetic determinants of this process will aid in delineating molecular pathways contributing to inter-individual variation in plasma LDL and thus improve our understanding of cardiovascular disease development and risk. (labome.org)
In numerous cases, the potential neurobiological impact of P/Q-type channel splice variation remains uncharted. (jneurosci.org)
Analysis of the MCP gene demonstrated that the variation in cDNA structure was a result of alternative splicing. (rupress.org)
However, overlapping transcript alignments that have different introns in their region of overlap, due to a splicing variation, are found incompatible and cannot be assembled together, and hence occupy distinct maximal alignment assemblies. (biomedcentral.com)

Baek D and Green P (2005) Sequence conservation, relative isoform frequencies, and nonsense‐mediated decay in evolutionarily conserved alternative splicing. (els.net)
Similar to synaptojanin 1, alternative splicing of synaptojanin 2 is tissue-specific and creates a shorter isoform expressed in brain and a longer form in peripheral tissues. (biomedsearch.com)
Indeed, siRNA-mediated knockdown of SRPK1 and SRSF1 in DLD1 and SW480 colorectal cancer cells led to a change in the 4A/4B isoform ratio, supporting a role of these factors in the regulation of SLC39A14 splicing. (mcponline.org)
We propose that IIp45 is a tumor suppressor gene that is inactivated by a tumor-specific alternative splicing that generates an aberrant and unstable IIp45 isoform in gliomas. (aacrjournals.org)
As the entire length of the RNA is mapped, accessible regions within those alternatively spliced exons could be picked, ensuring that specific knockdown of your specific isoform was achieved. (protocol-online.org)

Accumulating evidence suggests alternative splicing (AS) is a co-transcriptional splicing process not only controlled by RNA-binding splicing factors, but also mediated by epigenetic regulators, such as chromatin structure, nucleosome density, and histone modification. (springer.com)
Sustained loss of ESRP2 permitted re-emergence of a fetal RNA splicing program that attenuates the Hippo signaling pathway and thus, allows fetal transcriptional regulators to accumulate in adult liver. (jci.org)
Furthermore, we will look for common targets of AtGRP7 and AtGRP8 with other splicing regulators to identify an alternative splicing network in Arabidopsis thaliana and contribute to unravel the splice code in higher plants. (forschung-sachsen-anhalt.de)
We and others have implicated several splicing factors as regulators of lipid metabolism. (ovid.com)
Here, we describe how transcriptional regulators and coregulators influence alternative splicing, with a focus on genes that are controlled by steroid hormones. (pasteur.fr)

Intron retention: A sequence may be spliced out as an intron or simply retained. (wikipedia.org)
Alternative splicing can take the form of one or more skipped exons, variable position of intron splicing or intron retention. (hindawi.com)
Our analyses revealed that intron retention is the predominant alternative splicing type in P. cubensis , with alternative 5′- and alternative 3′-splice sites occurring at lower frequencies. (apsnet.org)
Taken together these studies confirmed that a lower percentage of genes are alternatively spliced compared to humans and that intron retention is the most prevalent form of AS in Arabidopsis and rice. (plantphysiol.org)

Are the products generated by alternative splicing functional? (nih.gov)
Recent analyses of sequence and microarray data have suggested that alternative splicing plays a major role in the generation of proteomic and functional diversity in metazoan organisms. (nih.gov)
The results of the study show that alternative splicing changes lead to a general loss of functional protein domains, and particularly those domains related to functions that are also affected by genetic mutations in cancer patients. (eurekalert.org)
The Functional Impact of Alternative Splicing in Cancer. (eurekalert.org)
Alternative splicing is a key cellular process driving phenotypic diversity and functional innovation. (els.net)
Designing effective and accurate tools for identifying the functional and structural elements in a genome remains at the frontier of genome annotation owing to incompleteness and inaccuracy of the data, limitations in the computational models, and shifting paradigms in genomics, such as alternative splicing. (jcvi.org)
These results allow refinement of variant interpretation guidelines for BRCA2 by providing insight into the functional consequences of naturally occurring and variant-related alternative splicing events. (nature.com)
PTBP1 and PTBP2 are closely related homologs that function in the regulation of alternative splicing, but their functional properties differ dramatically. (harvard.edu)
Accordingly, AS of the putative splicing factor REDUCED RED-LIGHT RESPONSES IN CRY1CRY2 BACKGROUND1 , previously identified as a red light signaling component, was shifted to the functional variant under light. (plantcell.org)
Although the splicing is highly conserved and the polymorphism that modifies it has been associated with altered AED dosage, the functional impact of the splicing on NaV1.1 is unknown. (ucl.ac.uk)
Our functional genomic studies show the "G" allele at rs6471859 produces a cryptic 3'UTR splice site regulating expression of CA8-204. (medworm.com)
Functional properties of p54, a novel SR protein active in constitutive and alternative splicing. (asm.org)
We report here that p54 is a new member of the SR family of splicing factors, as judged from its structural, antigenic, and functional characteristics. (asm.org)

A wealth of information has been accumulated that explains how alternative exons are selected in a developmental stage- or tissue-specific fashion. (frontiersin.org)
however, Drosophila melanogaster has a single CRMP gene that encodes one DHP and one CRMP protein through tissue-specific, alternative splicing of a pair of paralogous exons. (genetics.org)
PTB and FADS2AT1 were inversely correlated in neonatal baboon tissues, implicating PTB as a major regulator of tissue-specific FADS2 splicing. (cornell.edu)

Gene duplication and other molecular processes can interact with alternative splicing in highly complex ways to drive genome evolution. (els.net)
Gene regulation, including alternative splicing, is thought to account for the extraordinary divergence in traits between closely related species given the small degree of molecular divergence between orthologous protein sequences. (els.net)
a) Alternative splicing and other molecular processes may interact in complex ways to drive the evolution of trait complexity . (els.net)
The current review is aimed at providing an in-depth discussion of the molecular mechanisms of the dynamic control of alternative splicing regulated by calcium signaling. (frontiersin.org)
Thus, investigations of alternative splicing are essential for understanding the molecular events underlying the development of alcoholism. (mdpi.com)
Here, genetic, dietary and molecular factors regulating expression and alternative splicing of FADS genes were identified. (cornell.edu)
A theoretical introduction and practical guide for molecular biologists, geneticists,clinicians and every researcher interested in alternative splicing. (ellibs.com)
Alternative splicing can vastly diversify the function of single genes, potentially tailoring molecular phenotype to local environment ( Modrek and Lee, 2002 ). (jneurosci.org)
RNA splicing - In molecular biology and genetics, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined. (academic.ru)
However, the molecular relationship between alternative splicing and tumorigenesis is not well understood. (tennessee.edu)
Finally, what are the molecular mechanisms that allow PTBP1 and PTBP2 to control a variety of alternatively spliced exons? (harvard.edu)

Neurons use alternative splicing to produce channels with different sequences and biophysical or regulatory properties. (sciencemag.org)
Alternative splicing of the P/Q-type channel (Ca V 2.1) promises customization of the computational repertoire of neurons. (jneurosci.org)

in humans, for instance, around 60% genes undergo alternative splicing. (brighthub.com)
In this review, the author compiled a list of nearly 20 alternative exons that were demonstrated to undergo calcium-mediated regulation. (frontiersin.org)
A number of key genes involved in cholesterol metabolism are known to undergo functionally relevant alternative splicing. (ovid.com)
Most human genes undergo alternative splicing, and many abnormal splicing processes are associated with human diseases. (tennessee.edu)

b) Alternative splicing can influence trait complexity through the regulatory circuity of the cell . (els.net)
In this communication, we will summarize the recent advances in calcium signaling-mediated alternative splicing that have provided some insights into the important regulatory mechanisms. (frontiersin.org)
Here, we demonstrated that expression of epithelial splicing regulatory protein-2 (ESRP2), an RNA splicing factor that maintains the non-proliferative, mature phenotype of adult hepatocytes, was suppressed in both human SAH and various mouse models of SAH in parallel with the severity of alcohol consumption and liver damage. (jci.org)
Consensus clustering analysis was conducted to classified glioma samples and correlation analysis was conducted to characterize regulatory network of splicing factors and splicing events. (springer.com)
We propose that noncoding exons are functionally modular, with alternative splicing generating an enormous repertoire of potential regulatory RNAs and a rich transcriptional reservoir for gene evolution. (dtu.dk)
In this manuscript, we identified several new RNA regulatory elements for alternative splicing of Ron proto-oncogene. (jcancer.org)
Genome duplication and alternative splicing have profound implications on gene regulation, as the controlled expression of duplicated genes affects the evolution of genomes, whereas alternative splicing of regulatory genes has enormous ramifications on the functionality of nearly all expressed genes. (uni-koeln.de)

An acceptor site, alternative 3' splice junction is used. (brighthub.com)
For the alternate donor (AD) and acceptor (AA) classes, the distance between the splice sites for the majority of events was found to be less than 50 basepairs (bp). (biomedcentral.com)

Using data for more than 4,000 cancer patients from The Cancer Genome Atlas (TCGA project), a team led by Eduardo Eyras, ICREA research professor at the Department for Experimental and Health Sciences of the Pompeu Fabra University (DCEXS-UPF), has analyzed the changes in alternative splicing that occur in each tumor patient and studied how these changes could impact the function of genes. (eurekalert.org)
G-Mo.R-Se - maps splice junctions to genome. (github.com)
MapSplice - map RNA-seq data to reference genome for splice junction discovery. (github.com)
We also demonstrated that approximately 24% of the expressed genome and nearly 55% of the intron-containing genes from P. cubensis had evidence for alternative splicing. (apsnet.org)
The results presented herein highlight the utility of RNA-Seq for improving draft genome annotations and, through this approach, we demonstrate that alternative splicing occurs more frequently than previously predicted. (apsnet.org)
So, how do you explain the complexity of an organism with much less protein coding genes, like human genome having only 20.000 protein coding genes, in comparison to much less complex eukaryotic organisms with many more protein coding genes, if you through away the alternative splicing? (blogspot.com)
Alternative splicing (AS) can add significantly to genome complexity. (plantphysiol.org)
EST pairs gapped alignment was first evaluated in Arabidopsis ( Arabidopsis thaliana ), rice ( Oryza sativa ), and tomato ( Solanum lycopersicum ) for which annotated genome sequence is available and was shown to accurately predict splicing events. (plantphysiol.org)
We will perform genome-wide profiling of alternative splicing events that are altered in plants with elevated or reduced level of AtGRP7 by high throughput sequencing (RNA-Seq). (forschung-sachsen-anhalt.de)
We estimated the probability of spliceosome error (1.2%) and suggested a simple probabilistic model for filtering exons and introns obtained by EST-genome spliced alignment. (biomedcentral.com)
Specifically in this dissertation, Amborella genome is used to examine conservation and evolution of alternative splicing (AS) across angiosperms (flowering plants). (ufl.edu)
Analysis of syntenic regions of the mouse genome shows that few noncoding exons are shared between human and mouse, yet human splicing profiles are recapitulated on Hsa21 in mouse cells, indicative of regulation by a deeply conserved splicing code. (dtu.dk)
The human proteome is a highly complex extension of the genome wherein a single gene often produces distinct protein forms due to alternative splicing, RNA editing, polymorphisms, and posttranslational modifications. (mcponline.org)

To better understand the causes and consequences of alternative splicing changes during cancer progression, the team looked at RNA sequences from nearly 900 prostate tissue samples, ranging from healthy prostate tissue to localized or aggressive metastatic tumor tissue. (chop.edu)
In this study, we completely sequenced 1800 full-length cDNAs from Arabidopsis thaliana, which had 5' and/or 3' sequences that were previously found to have AS events or alternative transcription start sites. (uniprot.org)
I need to silence 2 different alternative splicing sequences. (protocol-online.org)
We assessed the extent of SR gene AS by generating splice graphs based on multiple alignments of ESTs/cDNAs to SR genomic sequences. (uni-koeln.de)

To determine if sterol regulated alternative splicing occurs in a larger number of genes in the cholesterol biosynthesis pathway;changes in alternative splicing will be quantified in HepG2 cells, primary human hepatocytes, and immortalized human lymphocyte cell lines treated with specific inhibitors and products of this pathway (Aim 1). (labome.org)
The regulation of alternative splicing occurs in two directions. (jcancer.org)

SpliceNest - Visualizing splicing of genes from EST Data for human, mouse, Drodophila and Arabidopsis. (github.com)
Analysis of multiple occurrences of alternative splicing events in Arabidopsis thaliana using novel sequenced full-length cDNAs. (uniprot.org)
We have performed a system-wide analysis of alternative splicing in clock components in Arabidopsis thaliana plants acclimated to different steady state temperatures or undergoing temperature transitions. (plantcell.org)
Alternative splicing is widespread in both rice and Arabidopsis and these species share many common features. (biomedcentral.com)

This is a significant limitation, since recent data suggest that regulation of alternative splicing is of major importance for regulation of proteomic diversity and for cell physiology/pathology ( 14 - 16 ). (diabetesjournals.org)
One way to create more proteomic variations is through alternative splicing ( 2 , 21 ). (asm.org)

However, we know surprisingly little about how cells respond to stimuli to modulate alternative splicing. (frontiersin.org)
This Perspective describes a promising approach to RNA repair based on the use of antisense oligonucleotides to modulate alternative splicing and engender the production of therapeutic gene products. (jci.org)

RNA alternative splicing enables genetic efficiency and genetic diversity. (brighthub.com)
Alternative splicing is a crucial step in the generation of protein diversity and its misregulation is observed in many human cancer types. (mcponline.org)
Alternative splicing increases protein diversity and is elaborately regulated. (jcancer.org)
Alternative splicing is one of the major mechanisms for generation of protein diversity both in an organism and in evolution. (jbsdonline.com)

Consistent with its identification as an SR protein, p54 can function as a constitutive splicing factor in complementing splicing-deficient HeLa cell S100 extract. (asm.org)
Alternatively spliced exons tend to be less conserved than constitutive ones both in terms of gain and loss, and in terms of substitution rate. (jbsdonline.com)

We find that both DHP and CRMP are derived from this single gene through alternative splicing of paralogous exons: DHP in nonneuronal tissues throughout the animal and CRMP exclusively in the nervous system. (genetics.org)

They found that Myc, a gene involved in normal cell functions and is amplified in many cancers, was linked to alternative splicing changes in genes that themselves regulate alternative splicing. (chop.edu)
Together, our findings indicate that CDK12 and cyclin L1/L2 are cyclin-dependent kinase and cyclin partners and regulate alternative splicing. (asm.org)

Studies carried out during the last three decades have generated a wealth of information that contributes to our understanding of cell type- and developmental stage-specific regulation of alternative splicing. (frontiersin.org)
Our findings suggest that MeCP2 is required for adjusting the robust changes in gene transcription and for proper regulation of alternative splicing during neuronal stimulation. (pnas.org)
This suggests that there's exquisite regulation of alternative splicing due to splicing factors. (blogspot.com)
Regulation of alternative splicing in Arabi. (forschung-sachsen-anhalt.de)
Our results provide a new insight for regulation of alternative splicing of Ron proto-oncogene. (jcancer.org)

Mechanisms of alternative splicing are highly variable, and new examples are constantly being found, particularly through the use of high-throughput techniques. (wikipedia.org)
For example, although a number of alternative exons have been shown to be regulated by calcium level alterations, the underlying mechanisms are not well understood. (frontiersin.org)
Next, he discussed the potential mechanisms of calcium-mediated splicing control using three well-studied examples. (frontiersin.org)
In this review, we discuss some of the evidence suggesting that alternative splicing of candidate genes such as DRD2 (encoding dopamine D2 receptor) may form the basis of the mechanisms underlying the pathophysiology of alcoholism. (mdpi.com)
DESCRIPTION (provided by applicant): The long-term goal of this project is to understand the mechanisms underlying CD45 alternative splicing and the role of CD45 splicing in lymphocyte and haematopoietic cell biology. (labome.org)
These findings provide important new insights into the mechanisms involved in neuronal differentiation, but many questions pertaining to the newly identified miRNA/alternative splicing interface remain to be answered. (harvard.edu)

In the process of splicing, exons are joined and introns are removed. (brighthub.com)
RNA splicing is the process by which introns are removed and exons patched together. (jove.com)
splicing - The process by which introns are removed from hnRNA to produce mature messenger RNA that contains only exons. (academic.ru)

Conclusions HNRNPLL is a novel metastasis suppressor of colorectal cancer, and modulates alternative splicing of CD44 during EMT. (bmj.com)

Recent evidence has indicated that alternative splicing of four genes involved in cholesterol metabolism (HMGCR, LDLR, HMG-CoA synthase and mevalonate kinase) is coordinately regulated by sterols such that sterol loading increases alternative splicing while sterol depletion suppresses alternative splicing. (labome.org)

These results suggest that CARM1 may play a role in TR-mediated transcriptional regulation during frog development and that its function is regulated by alternative splicing. (xenbase.org)

In this application we build on our recent discovery that the heterogenous nuclear ribonucleoprotein HNRPLL is the primary regulator of CD45 alternative splicing in stimulated T cells. (labome.org)
The splicing factor SRSF1 and its regulator, the kinase SRPK1 , were found to be deregulated upon Wnt inactivation in colorectal carcinoma cells. (mcponline.org)
We have previously hypothesized that epithelial mesenchymal transition (EMT) may play a central role in the progression of these adenomas and that epithelial splicing regulator 1 (ESRP1) may function prominently as a master regulator of the EMT process in pituitary adenomas causing acromegaly. (diva-portal.org)

Thanks to our previous research, we know that tumor type and stage can be predicted by observing alterations in alternative splicing", says Eyras, head of the research group in Computational RNA Biology from the Research Programme on Biomedical Informatics (GRIB), a joint research unit of the Hospital del Mar Medical Research Institute (IMIM) and the DCEXS-UPF. (eurekalert.org)
Distinct splicing profiles between GBM and LGG were observed, and the primary discriminator for the pan-glioma splicing classification was tumor grade. (springer.com)

In a new study published in the journal Cell Reports , researchers show that alterations in a process known as alternative splicing may also trigger the disease. (eurekalert.org)
This process can lead to transcript diversification through the phenomenon of alternative splicing. (hindawi.com)
Once researchers understand how exactly the splicing process is regulated, they may be able to predict alternative splicing products from a given gene, which will be helpful as the outcomes of RNA alternative splicing vary and include turning a gene off and changing the function of a protein. (brighthub.com)
This decision is made during the splicing process. (wikidoc.org)
The process in which eukaryotic RNA is edited prior to protein translation is called splicing. (jove.com)
We understand that we can make small unusual structured drugs called oligonucleotides, which is the same material DNA is made out of by and large, and introduce that into cells and shift the splicing process. (dnalc.org)
And if we can shift splicing process then we should be able to control some of the changes due to mutations in disease processes. (dnalc.org)
Taken together, this research examined the viral life cycle by analyzing the critical steps in alternative splicing involved in a viable MVM infection, and will also give insights into the fundamental biological process of alternative splicing. (umsystem.edu)
The importance of splicing and alternative splicing is highlighted by the number of human diseases which are associated with mistakes in the splicing process. (hutton.ac.uk)
panel to monitor hundreds of alternative splicing events simultaneously, are developing process-specific alternative splicing panels and other systems to follow alternative splicing. (hutton.ac.uk)

SAW - identify splicing events from RNA-Seq data. (github.com)
SplitSeek - predict splice events from RNA-Seq data. (github.com)
MAASE - Convenient access, identification, and annotation of alternative splicing events (ASEs), designed specifically with experimentalists in mind. (github.com)
A previous study capitalized on an unusual feature of the DsRed gene, which is that it has two open reading frames, to demonstrate that GFP and DsRed can be used together in a single bi-chromatic construct to quantify alternative splicing events within individual cells or mixed cell populations using flow cytometry or fluorescence microscopy 11 . (nature.com)
Using this program, the researchers identified more than 13,000 alternative splicing events that varied across these 900 prostate samples. (chop.edu)
This led us to question mTORC1 involvement in splice site selection, and we discovered several alternative splicing events downstream of mTORC1 signaling. (harvard.edu)
Gapped read alignments revealed 1,908 high-confidence new splicing events supported by 10 or more spliced read alignments. (plantphysiol.org)
Using the TCGA glioblastoma (GBM) and low-grade glioma (LGG) datasets, we analyzed prognostic splicing events. (springer.com)
We analyzed prognostic splicing events and proposed novel splicing classifications across pan-glioma samples (labeled pST1-7) and across GBM samples (labeled ST1-3). (springer.com)
Furthermore, correlation analysis of splicing factors and splicing events identified SNRPB and CELF2 as hub splicing factors that upregulated and downregulated oncogenic AS, respectively. (springer.com)
Traditional classification of basic types of alternative RNA splicing events. (academic.ru)

The rate of synonymous and non-synonymous substitutions strongly depends on the type of alternative (cassette and mutually exclusive exons, regions between alternative splice sites, retained introns). (jbsdonline.com)

Alternative splicing is of great importance to genetics - it invalidates the old theory of one DNA sequence coding for one polypeptide (the "one-gene-one-protein" hypothesis). (wikidoc.org)

CrkRS is a Cdc2-related protein kinase that contains an arginine- and serine-rich (SR) domain, a characteristic of the SR protein family of splicing factors, and is proposed to be involved in RNA processing. (asm.org)
CrkRS contains an arginine- and serine-rich (RS) domain, a characteristic found in the SR protein family of splicing factors. (asm.org)

In the July 1st issue of Genes & Development , Dr. Douglas Black (UCLA) and colleagues detail how alternative splicing is reprogrammed during neuronal development. (cshlpress.com)
Neuronal Signaling through Alternative Splicing: Some Exons CaRRE. (sciencemag.org)

Our data suggest that RBM5 plays a pivotal role in the alternative splicing of KLF4, and these splicing variant forms may impact tumorigenesis. (tennessee.edu)

Over 80 percent of genes in humans are alternatively spliced. (brighthub.com)
in humans, ~95% of multi-exonic genes are alternatively spliced. (wikipedia.org)
A common myth is that alternative splicing is responsible for humans supposedly being the most complex animals, saying that humans perform more alternative splicing than the other animals. (wikidoc.org)
[ 1 ] in humans, ~95% of multiexonic genes are alternatively spliced. (academic.ru)

ASG - Alternative Splicing Gallery for human genes. (github.com)
Our analysis reveals that a substantial part--in human more than a quarter-of the observed splicing variations are ignored in common classification pipelines. (nih.gov)
Alternative splicing for members of human mosaic domain superfamilies. (biomedsearch.com)
Using human prostate cells that were engineered to turn on or off Myc activity, researchers further confirmed that these alternative splicing changes were indeed driven by Myc. (chop.edu)
Due to the presence of polymorphisms, alternative splicing, and posttranslational modifications (PTMs) 1 the human proteome is highly complex, often encoding multiple protein forms for a given gene ( 1 ). (mcponline.org)
It has been estimated that at any moment in time, each cell in the human body is engaged in splicing 20,000 introns. (hutton.ac.uk)
The cloning of the mouse cDNA, identification of alternatively spliced exons, detection of an 8 kb 3'-UTR, and the genomic organization of human and mouse RPTPρ genes are described. (pubmedcentralcanada.ca)
Comparative transcriptomes of non-polyadenylated RNAs among human, rhesus and mouse revealed that the expression of sno-lncRNAs is species-specific and that their processing is closely linked to alternative splicing of their parent genes. (biomedcentral.com)
It is estimated that ∼15% of disease-causing mutations in human genes involve misregulation of alternative splicing ( 25 ). (asm.org)

Organisms1

Diseases3

Chemicals and Drugs9

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology2

Phenomena and Processes10

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture2

Humanities2

Information Science10

Health Care3

Publication Characteristics8

Characterization of an amphioxus paired box gene, AmphiPax2/5/8: developmental expression patterns in optic support cells, nephridium, thyroid-like structures and pharyngeal gill slits, but not in the midbrain-hindbrain boundary region. (1/9069)

The role of gene splicing, gene amplification and regulation in mosquito insecticide resistance. (2/9069)

Expression of the naturally occurring truncated trkB neurotrophin receptor induces outgrowth of filopodia and processes in neuroblastoma cells. (3/9069)

Differential stability of the DNA-activated protein kinase catalytic subunit mRNA in human glioma cells. (4/9069)

Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences. (5/9069)

Alterations in the conserved SL1 trans-spliced leader of Caenorhabditis elegans demonstrate flexibility in length and sequence requirements in vivo. (6/9069)

Mammalian staufen is a double-stranded-RNA- and tubulin-binding protein which localizes to the rough endoplasmic reticulum. (7/9069)

Expression of novel alternatively spliced isoforms of the oct-1 transcription factor. (8/9069)

Alternative Splicing

Complement Pathway, Alternative

Animal Testing Alternatives

Exons

Molecular Sequence Data

Complementary Therapies

Base Sequence

Protein Isoforms

Amino Acid Sequence

RNA, Messenger

RNA Splice Sites

RNA Splicing

Introns

RNA Precursors

Complement Factor B

Treatment Outcome

Complement Activation

Cloning, Molecular

Transcription, Genetic

Mutation

Time Factors

RNA-Binding Proteins

Cell Line

Polymerase Chain Reaction

DNA, Complementary

Complement C3

Models, Genetic

Sequence Alignment

Models, Biological

Reproducibility of Results

Polyadenylation

Algorithms

Gene Expression Regulation

Reverse Transcriptase Polymerase Chain Reaction

Sequence Analysis, DNA

Sensitivity and Specificity

Sequence Homology, Amino Acid

Complement C3 Convertase, Alternative Pathway

DNA Primers

DNA

Complement Pathway, Classical

Chromosomes, Human, 4-5

Oxidoreductases

Protein Binding

Evolution, Molecular

Properdin

Organ Specificity

RNA Isoforms

Complement Factor D

Phylogeny

Gene Expression Profiling

Cells, Cultured

Binding Sites

Sequence Homology, Nucleic Acid

Protein Structure, Tertiary

Complement C3-C5 Convertases

Computer Simulation

Computational Biology

HeLa Cells

Transfection

Nuclear Proteins

Phenotype

Gene Expression

Choice Behavior

Genetic Variation

Recombinant Proteins

Models, Molecular

Expressed Sequence Tags

Species Specificity

Kinetics

Models, Statistical

Transcription Factors

Signal Transduction

Complement C3b

Conserved Sequence

Bacterial Proteins

RNA

Cost-Benefit Analysis

Proteins

Escherichia coli