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ENU
ENU, also known as ''N''-ethyl-''N''-nitrosourea (chemical formula C3H7N3O2), is a highly potent mutagen. For a given gene in mice, ENU can induce 1 new mutation in every 700 loci. It is also toxic at high doses. The chemical is an alkylating agent, and acts by transferring the ethyl group of ENU to nucleobases (usually thymine) in nucleic acids. Its main targets are the spermatogonial stem cells, from which mature sperm are derived. Background of discovery of ENU as a mutagen Bill Russell (1951) created a landmark in the field of mouse genetics by creating a specifically designed mouse strain, the ''T'' (test) stock that was used in genetic screens for testing mutagens such as radiations and chemicals. The ''T''-stock mouse harbors 7 recessive, viable mutations affecting easily recognizable traits. At the Oak Ridge National Laboratory, Russell's initial goal was to determine the rate of inheritable gene mutations in the germ line induced by radiations. Thus he decided to use ' ...
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Mutagenesis (molecular Biology Technique)
In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The various constituents of a gene, as well as its regulatory elements and its gene products, may be mutated so that the functioning of a genetic locus, process, or product can be examined in detail. The mutation may produce mutant proteins with interesting properties or enhanced or novel functions that may be of commercial use. Mutant strains may also be produced that have practical application or allow the molecular basis of a particular cell function to be investigated. Many methods of mutagenesis exist today. Initially, the kind of mutations artificially induced in the laboratory were entirely random using mechanisms such as UV irradiation. Random mutagenesis cannot target specific regions or sequences of the genome; however, with the development ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ...
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N-Nitroso-N-methylurea
''N''-Nitroso-''N''-methylurea (NMU) is a highly reliable carcinogen, mutagen, and teratogen. NMU is an alkylating agent, and exhibits its toxicity by transferring its methyl group to nucleobases in nucleic acids, which can lead to AT:GC transition mutations. NMU is the traditional precursor in the synthesis of diazomethane. It has the potentially advantageous property that the stoichiometric byproducts formed are water, carbon dioxide, and ammonia, which are innocuous or easily removed. However, because it is unstable at temperatures beyond 20 °C and somewhat shock-sensitive, it has become obsolete for this purpose and replaced by other N-nitroso compounds: (''N''-methyl)nitrosamides and nitrosamines. Most chemical supply houses have stopped carrying it. Acute exposure to NMU in humans can result in skin and eye irritation, headache, nausea, and vomiting.
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Dimethylformamide
Dimethylformamide is an organic compound with the formula ( CH3)2NC(O)H. Commonly abbreviated as DMF (although this initialism is sometimes used for dimethylfuran, or dimethyl fumarate), this colourless liquid is miscible with water and the majority of organic liquids. DMF is a common solvent for chemical reactions. Dimethylformamide is odorless, but technical-grade or degraded samples often have a fishy smell due to impurity of dimethylamine. Dimethylamine degradation impurities can be removed by sparging samples with an inert gas such as argon or by sonicating the samples under reduced pressure. As its name indicates, it is structurally related to formamide, having two methyl groups in the place of the two hydrogens. DMF is a polar (hydrophilic) aprotic solvent with a high boiling point. It facilitates reactions that follow polar mechanisms, such as SN2 reactions. Structure and properties As for most amides, the spectroscopic evidence indicates partial double bond charact ...
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Deuterated DMF
Deuterated dimethylformamide ((CD3)2NCOD), also known as deuterated DMF, is an isotopologue of DMF ((CH3)2NCOH) in which the hydrogen atom ("H") is replaced with a deuterium isotope ("D"). Deuterated DMF is a relatively uncommon solvent used in NMR spectroscopy Nuclear magnetic resonance spectroscopy, most commonly known as NMR spectroscopy or magnetic resonance spectroscopy (MRS), is a spectroscopic technique to observe local magnetic fields around atomic nuclei. The sample is placed in a magnetic fiel .... References Deuterated solvents {{organic-compound-stub ...
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Acetylleucine
Acetylleucine is a modified amino acid used in the treatment of vertigo and cerebellar ataxia. Acetylleucine is also being developed as a possible treatment for several neurological disorders by IntraBio Inc. Clinical trials with acetylleucine for the treatment of three orphan, fatal, neurodegenerative disorders are underway: Niemann-Pick disease type C, GM2 gangliosidoses ( Tay-Sachs and Sandhoff diseases), and ataxia–telangiectasia. In 2020, IntraBio announced the successful multinational clinical trial results of the Niemann-Pick type C clinical trial. IntraBio is also investigating acetylleucine for the treatment of common inherited and acquired neurological diseases including Lewy body dementia, amyotrophic lateral sclerosis, restless legs syndrome, multiple sclerosis, and migraine Acetylleucine has received orphan drug An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to prod ...
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Molar Attenuation Coefficient
In chemistry, the molar absorption coefficient or molar attenuation coefficient is a measurement of how strongly a chemical species absorbs, and thereby attenuates, light at a given wavelength. It is an intrinsic property of the species. The International System of Units, SI unit of molar absorption coefficient is the square metre per Mole (unit), mole (), but in practice, quantities are usually expressed in terms of Molar concentration#Units, M−1⋅cm−1 or L⋅mol−1⋅cm−1 (the latter two units are both equal to ). In older literature, the cm2/mol is sometimes used; 1 M−1⋅cm−1 equals 1000 cm2/mol. The molar absorption coefficient is also known as the molar extinction coefficient and molar absorptivity, but the use of these alternative terms has been discouraged by the International_Union_of_Pure_and_Applied_Chemistry, IUPAC. Beer–Lambert law The absorbance of a material that has only one absorbing species also depends on the pathlength and the concentration of the ...
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Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Wild Type
The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard "normal" allele at a locus, in contrast to that produced by a non-standard, "mutant" allele. "Mutant" alleles can vary to a great extent, and even become the wild type if a genetic shift occurs within the population. Continued advancements in genetic mapping technologies have created a better understanding of how mutations occur and interact with other genes to alter phenotype. It is now appreciated that most or all gene loci exist in a variety of allelic forms, which vary in frequency throughout the geographic range of a species, and that a uniform wild type does not exist. In general, however, the most prevalent allele – i.e., the one with the highest gene frequency – is the one deemed wild type. The concept of wild type is useful in some experimental organisms such as fruit flies ''Drosophila melanogaster'' ...
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Procarbazine
Procarbazine is a chemotherapy medication used for the treatment of Hodgkin's lymphoma and brain cancers. For Hodgkin's it is often used together with chlormethine, vincristine, and prednisone while for brain cancers such as glioblastoma multiforme it is used with lomustine and vincristine. It is typically taken by mouth. Common side effect include low blood cell counts and vomiting. Other side effects include tiredness and depression. It is not recommended in people with severe liver or kidney problems. Use in pregnancy is known to harm the baby. Procarbazine is in the alkylating agents family of medication. How it works is not clearly known. Procarbazine was approved for medical use in the United States in 1969. It is on the World Health Organization's List of Essential Medicines. In the United Kingdom a month of treatment cost the National Health Service 450 to 750 pounds. Medical uses When used to treat Hodgkin's lymphoma, it is often delivered as part of the BEACOPP re ...
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Base Pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA and RNA. Dictated by specific hydrogen bonding patterns, "Watson–Crick" (or "Watson–Crick–Franklin") base pairs (guanine–cytosine and adenine–thymine) allow the DNA helix to maintain a regular helical structure that is subtly dependent on its nucleotide sequence. The Complementarity (molecular biology), complementary nature of this based-paired structure provides a redundant copy of the genetic information encoded within each strand of DNA. The regular structure and data redundancy provided by the DNA double helix make DNA well suited to the storage of genetic information, while base-pairing between DNA and incoming nucleotides provides the mechanism through which DNA polymerase replicates DNA and RNA polymerase transcribes DNA in ...
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