Each gene is made up of a long sequence of substances called nucleotides; these nucleotides, taken in series of three at a time, specify each amino acid subunit of a protein (see nucleic acid). 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 is the result of a mutation that results in the substitution of the amino acid valine for glutamic acid in hemoglobin.
Because proteins called enzymes 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, 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.
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. 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.
See W. Gottschalk and G. Wolff, Induced Mutations in Plant Breeding (1983); G. Obe, Mutations in Man (1984).
Alteration in the genetic material of a cell that is transmitted to the cell's offspring. Mutations may be spontaneous or induced by outside factors (mutagens). They take place in the genes, occurring when one base is substituted for another in the sequence of bases that determines the genetic code, or when one or more bases are inserted or deleted from a gene. Many mutations are harmless, often masked by the presence of a dominant normal gene (see dominance). Some have serious consequences; for example, a particular mutation inherited from both parents results in sickle-cell anemia. Only mutations that occur in the sex cells (eggs or sperm) can be transmitted to the individual's offspring. Alterations caused by these mutations are usually harmful. In the rare instances in which a mutation produces a beneficial change, the percentage of organisms with this gene will tend to increase until the mutated gene becomes the norm in the population. In this way, beneficial mutations serve as the raw material of evolution.
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In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses, or can occur deliberately under cellular control during processes such as hypermutation. In multicellular organisms, mutations can be subdivided into germ line mutations, which can be passed on to descendants, and somatic mutations, which are not transmitted to descendants in animals. Plants sometimes can transmit somatic mutations to their descendants asexually or sexually (in cases where flower buds develop in somatically mutated parts of plants). A new mutation that was not inherited from either parent is called a de novo mutation. The source of the mutation is unrelated to the consequence, although the consequences are related to which cells are affected.
Mutations create variation within the gene pool. Less favorable (or deleterious) mutations can be reduced in frequency in the gene pool by natural selection, while more favorable (beneficial or advantageous) mutations may accumulate and result in adaptive evolutionary changes. For example, a butterfly may produce offspring with new mutations. The majority of these mutations will have no effect; but one might change the color of one of the butterfly's offspring, making it harder (or easier) for predators to see. If this color change is advantageous, the chance of this butterfly surviving and producing its own offspring are a little better, and over time the number of butterflies with this mutation may form a larger percentage of the population.
Neutral mutations are defined as mutations whose effects do not influence the fitness of an individual. These can accumulate over time due to genetic drift. It is believed that the overwhelming majority of mutations have no significant effect on an organism's fitness. Also, DNA repair mechanisms are able to mend most changes before they become permanent mutations, and many organisms have mechanisms for eliminating otherwise permanently mutated somatic cells.
Mutation is generally accepted by the scientific community as the mechanism upon which natural selection acts, providing the advantageous new traits that survive and multiply in offspring or disadvantageous traits that die out with weaker organisms.
The sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health depending on where they occur and whether they alter the function of essential proteins. Structurally, mutations can be classified as:
Spontaneous mutations on the molecular level include:
Induced mutations on the molecular level can be caused by:
Mutation rates also vary across species. Evolutionary biologists have theorized that higher mutation rates are beneficial in some situations, because they allow organisms to evolve and therefore adapt more quickly to their environments. For example, repeated exposure of bacteria to antibiotics, and selection of resistant mutants, can result in the selection of bacteria that have a much higher mutation rate than the original population (mutator strains).
g.100G>C if the mutation has occurred in genomic DNA, m.100G>C if the mutation has occurred in mitochondrial DNA, r.100g>c if the mutation has occurred in RNA .(note that for muatations in RNA lower cases of the single letter code is used)
If a mutation is present in a germ cell, it can give rise to offspring that carries the mutation in all of its cells. This is the case in hereditary diseases. On the other hand, a mutation can occur in a somatic cell of an organism. Such mutations will be present in all descendants of this cell, and certain mutations can cause the cell to become malignant, and thus cause cancer.
Often, gene mutations that could cause a genetic disorder are repaired by the DNA repair system of the cell. Each cell has a number of pathways through which enzymes recognize and repair mistakes in DNA. Because DNA can be damaged or mutated in many ways, the process of DNA repair is an important way in which the body protects itself from disease.
For example, a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS onset in heterozygotes. The CCR5 mutation is more common in those of European descent. One theory for the etiology of the relatively high frequency of CCR5-Δ32 in the European population is that it conferred resistance to the bubonic plague in mid-14th century Europe. People who had this mutation were able to survive infection; thus, its frequency in the population increased. It could also explain why this mutation is not found in Africa where the bubonic plague never reached. Newer theory says the selective pressure on the CCR5 Delta 32 mutation has been caused by smallpox instead of the bubonic plague.
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FLT3 Mutations at Diagnosis and Relapse in Acute Myeloid Leukemia: Cytogenetic and Pathologic Correlations, Including Cuplike Blast Morphology
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