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Gene |
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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. The strands of DNA on which the genes occur are organized into chromosomes chromosome (krō`məsōm') ..... Click the link for more information. . The nucleus of each eukaryotic (nucleated) cell has a complete set of chromosomes and therefore a complete set of genes. Each gene provides a blueprint for the synthesis (via RNA) of enzymes and other proteins and specifies when these substances are to be made (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. ). Genes govern both the structure and metabolic functions of the cells, and thus of the entire organism and, when located in reproductive cells, they pass their information to the next generation. Chemically, each gene consists of a specific sequence of DNA building blocks called nucleotides. Each nucleotide is composed of three subunits: a nitrogen-containing compound, a sugar, and phosphoric acid. Genes may vary in their precise makeup from person to person, including, for example, one nucleotide in a certain location in some people but another nucleotide in that location in others. Geometrically, the gene is a double helix formed by the nucleotides. Gene loci are often interspersed with segments of DNA that do not code for proteins; these segments are termed "junk DNA." When junk DNA occurs within a gene, the coding portions are called exons and the noncoding (junk) portions are called introns. Junk DNA makes up 97% of the DNA in the human genome, and, despite its name, is necessary for the proper functioning of the genes. Each chromosome of each species has a definite number and arrangement of genes. Alteration of the number or arrangement of the genes can result in mutation mutation, in biology, a sudden, random change in a gene , 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 The scientific study of inheritance is genetics genome, or characteristic set of genes, that contains the total genetic information for an individual organism. In many familiar organisms two genes for each trait are present in each individual, and these paired genes, both governing the same trait, are called See also gene therapy gene therapy, the use of genes and the techniques of genetic engineering in the treatment of a genetic disorder or chronic disease. There are many techniques of gene therapy, all of them still in experimental stages. geneUnit of heredity that occupies a fixed position on a chromosome. Genes achieve their effects by directing protein synthesis. They are composed of DNA, except in some viruses that contain RNA instead. The sequence of nitrogenous bases along a strand of DNA determines the genetic code. When the product of a particular gene is needed, the portion of the DNA molecule that contains that gene splits, and a complementary strand of RNA, called messenger RNA (mRNA), forms and then passes to ribosomes, where proteins are synthesized. A second type of RNA, transfer RNA (tRNA), matches up the mRNA with specific amino acids, which combine in series to form polypeptide chains, the building blocks of proteins. Experiments have shown that many of the genes within a cell are inactive much or even all of the time, but they can be switched on and off. Mutations occur when the number or order of bases in a gene is disrupted. See also genetic engineering, genetics, Hardy-Weinberg law, Human Genome Project, linkage group. Gene The basic unit in inheritance. There is no general agreement as to the exact usage of the term, since several criteria that have been used for its definition have been shown not to be equivalent. The facts of mendelian inheritance indicate the presence of discrete hereditary units that replicate at each cell division, producing remarkably exact copies of themselves, and that in some highly specific way determine the characteristics of the individuals that bear them. The evidence also shows that each of these units may at times mutate to give a new equally stable unit (called an allele), which has more or less similar but not identical effects on the characters of its bearers. These hereditary units are the genes, and the criteria for the recognition that certain genes are alleles have been that they (1) arise from one another by a single mutation, (2) have similar effects on the characters of the organism, and (3) occupy the same locus in the chromosome. It has long been known that there were a few cases where these criteria did not give consistent results, but these were explained by special hypotheses in the individual cases. However, such cases have been found to be so numerous that they appear to be the rule rather than the exception. See Allele, Gene action, Mendelism, Mutation, Recombination (genetics) The term gene, or cistron, may be used to indicate a unit of function. The term is used to designate an area in a chromosome made up of subunits present in an unbroken unit to give their characteristic effect. See Chromosome Every gene consists of a linear sequence of bases in a nucleic acid molecule. Genes are specified by the sequence of bases in DNA in prokaryotic, archaeal, and eukaryotic cells, and in DNA or ribonucleic acid (RNA) in prokaryotic or eukaryotic viruses. The ultimate expressions of gene function are the formation of structural and regulatory RNA molecules and proteins. These macromolecules carry out the biochemical reactions and provide the structural elements that make up cells. See Deoxyribonucleic acid (DNA), Nucleic acid, Ribonucleic acid (RNA), Virus One goal of molecular biology is to understand the function, expression, and regulation of a gene in terms of its DNA or RNA sequence. The genetic information in genes that encode proteins is first transcribed from one strand of DNA into a complementary messenger RNA (mRNA) molecule by the action of the RNA polymerase enzyme. Many kinds of eukaryotic and a limited number of prokaryotic mRNA molecules are further processed by splicing, which removes intervening sequences called introns. In some eukaryotic mRNA molecules, certain bases are also changed posttranscriptionally by a process called RNA editing. The genetic code in the resulting mRNA molecules is translated into proteins with specific amino acid sequences by the action of the translation apparatus, consisting of transfer RNA (tRNA) molecules, ribosomes, and many other proteins. The genetic code in an mRNA molecule is the correspondence of three contiguous (triplet) bases, called a codon, to the common amino acids and translation stop signals; the bases are adenine (A), uracil (U), guanine (G), and cytosine (C). There are 61 codons that specify the 20 common amino acids, and 3 codons that lead to translation stopping. See Genetic code, Intron In many cases, the genes that mediate a specific cellular or viral function can be isolated. The recombinant DNA methods used to isolate a gene vary widely depending on the experimental system, and genes from RNA genomes must be converted into a corresponding DNA molecule by biochemical manipulation using the enzyme reverse transcriptase. The isolation of the gene is referred to as cloning, and allows large quantities of DNA corresponding to a gene of interest to be isolated and manipulated. After the gene is isolated, the sequence of the nucleotide bases can be determined. The goal of the large-scale Human Genome Project is to sequence all the genes of several model organisms and humans. The sequence of the region containing the gene can reveal numerous features. If a gene is thought to encode a protein molecule, the genetic code can be applied to the sequence of bases determined from the cloned DNA. The application of the genetic code is done automatically by computer programs, which can identify the sequence of contiguous amino acids of the protein molecule encoded by the gene. If the function of a gene is unknown, comparisons of its nucleic acid or predicted amino acid sequence with the contents of huge international databases can often identify genes or proteins with analogous or related functions. These databases contain all the known sequences from many prokaryotic, archaeal, and eukaryotic organisms. Putative regulatory and transcript-processing sites can also be identified by computer. These putative sites, called consensus sequences, have been shown to play roles in the regulation and expression of groups of prokaryotic, archaeal, or eukaryotic genes. However, computer predictions are just a guide and not a substitute for analyzing expression and regulation by direct experimentation. See Genetic engineering, Human Genome Project, Molecular biology |
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