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in biology, a sudden, random change in a gene gene,
the structural unit of inheritance in living organisms. A gene is, in essence, a segment of DNA that has a particular purpose, i.e. that codes for (contains the chemical information necessary for the creation of) a specific enzyme or other protein.
. Click the link for more information. or unit of hereditary material, that can alter an inheritable characteristic. Most mutations are not beneficial, since any change in the delicate balance of an organism having a high level of adaptation to its environment tends to be disruptive. As the environment changes, however, mutations can prove advantageous and thus contribute to evolutionary change in the species. In higher animals and many higher plants a mutation may be transmitted to future generations only if it occurs in germ, or sex cell, tissue; somatic, or body cell, mutations cannot be inherited except in plants that propagate asexually (see reproduction reproduction,
capacity of all living systems to give rise to new systems similar to themselves. The term reproduction may refer to this power of self-duplication of a single cell or a multicellular animal or plant organism.
. Click the link for more information. ). Sometimes the word mutation is used broadly to include variations resulting from aberrations of chromosomes chromosome
structural carrier of hereditary characteristics, found in the nucleus of every cell and so named for its readiness to absorb dyes. The term chromosome
. Click the link for more information. ; in chromosomal mutations the number of chromosomes may be altered, or segments of chromosomes may be lost or rearranged. Changes within single genes, called point mutations, are actual chemical changes to the structure of the constituent DNA.
Each gene is made up of a long sequence of substances called nucleotides nucleotide
organic substance that serves as a monomer in forming nucleic acids. Nucleotides consist of either a purine or a pyrimidine base, a ribose or deoxyribose, and a phosphate group. Adenosine triphosphate serves as the principle energy carrier for the cell's reactions.
. Click the link for more information. ; these nucleotides, taken in series of three at a time, specify each amino acid subunit of a protein (see nucleic acid nucleic acid,
any of a group of organic substances found in the chromosomes of living cells and viruses that play a central role in the storage and replication of hereditary information and in the expression of this information through protein synthesis.
. Click the link for more information. ). In a frameshift mutation, a nucleotide is added or deleted to the sequence and the decoding of the entire gene sequence will be radically altered and the amino acid sequence of the protein produced will also be very different. Often the resulting protein is totally ineffective. If one nucleotide substitutes for another in the sequence only one amino acid of the protein will be different, but the effect can be quite dramatic. For example, the inherited sickle cell disease sickle cell disease
or sickle cell anemia,
inherited disorder of the blood in which the oxygen-carrying hemoglobin pigment in erythrocytes (red blood cells) is abnormal.
. Click the link for more information. is the result of a mutation that results in the substitution of the amino acid valine valine
organic compound, one of the 22 α-amino acids commonly found in animal proteins. Only the l -stereoisomer
appears in mammalian protein.
. Click the link for more information. for glutamic acid glutamic acid
organic compound, one of the 20 amino acids commonly found in animal proteins. Only the l -stereoisomer occurs in mammalian proteins.
. Click the link for more information. in hemoglobin hemoglobin
respiratory protein found in the red blood cells (erythrocytes) of all vertebrates and some invertebrates. A hemoglobin molecule is composed of a protein group, known as globin, and four heme groups, each associated with an iron atom.
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Because proteins called enzymes enzyme,
biological catalyst. The term enzyme comes from zymosis, the Greek word for fermentation, a process accomplished by yeast cells and long known to the brewing industry, which occupied the attention of many 19th-century chemists.
. Click the link for more information. control most cell activities, a mutation affecting an enzyme can result in alteration of other cell components. A single gene mutation may have many effects if the enzyme it controls is involved in several metabolic processes. Occasionally a mutation can be offset by either another mutation on the same gene or on another gene that suppresses the effect of the first. Certain genes are responsible for producing enzymes that can repair some mutations. While this process is not fully understood, it is believed that if these genes themselves mutate, the result can be a higher mutation rate of all genes in an organism.
Mutations may be induced by exposure to ultraviolet rays and alpha, beta, gamma, and X radiation, by extreme changes in temperature, and by certain mutagenic chemicals such as nitrous acid, nitrogen mustard, and chemical substitutes for portions of the nucleotide subunits of genes. H. J. Muller Muller, Hermann Joseph
1890–1967, American geneticist and educator, b. New York City, grad. Columbia (B.A. 1910; Ph.D. 1916). A student of Thomas Hunt Morgan, he taught (1915–18) at Rice Institute, Tex. at Columbia (1918–20), and at the Univ.
. Click the link for more information. an American geneticist, pioneered in inducing mutations by X-ray radiation (using the fruit fly, Drosophila ) and developed a method of detecting mutations that are lethal.
Mutation and Evolution
In 1901 the observation of mutants, or sports, among evening primrose plants led the Dutch botanist Hugo de Vries to present his theory that new characteristics may appear suddenly and that these characteristics are inheritable; before this time the sources of evolutionary variation were not known and some still believed that evolution resulted from a gradual selection of favorable acquired characteristics acquired characteristics,
modifications produced in an individual plant or animal as a result of mutilation, disease, use and disuse, or any distinctly environmental influence. Some examples are docking of tails, malformation caused by disease, and muscle atrophy.
. Click the link for more information. The work of de Vries and of subsequent investigators who demonstrated the distinction between mutation and environmental variations has shown the importance of mutation in the mechanism of evolution evolution,
concept that embodies the belief that existing animals and plants developed by a process of gradual, continuous change from previously existing forms. This theory, also known as descent with modification, constitutes organic evolution.
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See W. Gottschalk and G. Wolff, Induced Mutations in Plant Breeding (1983); G. Obe, Mutations in Man (1984).
1. the act or process of mutating; change; alteration