Genes: Definition and Structure

The word ‘gene’ has two meanings: (1) the determinant of an observable trait or characteristic of an organism, or (2) the DNA sequence that determines the chemical structure of a specific polypeptide molecule or RNA molecule. Since the observable characteristics of organisms include the chemical structures of their constituent molecules, these two definitions merge at the molecular level.

Keywords: gene; cistron; genetic code; gene expression; gene regulation

Figure 1. Mendel's demonstration of the particulate nature of the gene. Two true-breeding strains of peas, one tall and the other short, were crossed to one another. All of their offspring were tall. At the level of their genes, the tall plants were TT homozygotes, and the short plants were tt. When a tall plant is crossed to another tall plant, the gametes are all T, and the offspring produced are all TT homozygotes. Like the parents, they are tall. Similarly, tt homozygotes, when crossed to one another, produce only short, tt homozygotes. A cross of a tall plant with a short one produces Tt heterozygotes, which are tall because the T allele of the tallness gene is dominant to the t allele. When these Tt heterozygotes make gametes, half of the gametes are T and half are t. In a cross between two Tt heterozygotes (or a self-cross, which is genetically the same) T and t gametes join at random to form zygotes. A T egg is equally likely to be fertilized by a T pollen nucleus or a t pollen nucleus. Similarly, a t egg is equally likely to be fertilized by a T pollen nucleus or a t pollen nucleus. Thus, the progeny of a cross between two heterozygotes is 1/4 TT, 1/2 Tt and 1/4 tt. The homozygous TT offspring are tall, and so are the heterozygous Tt offspring (because T is the dominant allele). However, the tt homozygotes are short. This experiment shows that the t allele remains unchanged in the Tt heterozygote and reappears in the offspring of the Tt heterozygote when an appropriate cross is done.
Figure 2. The genetic code. RNA contains four bases, adenine (A), guanine (G), cytosine (C) and uracil (U). One difference between DNA and RNA is that RNA contains U instead of T. These four bases can be assembled into 64 possible triplet codons, every one of which has a meaning in the genetic code. The codons are traditionally written in their mRNA form. The amino acid translations of the codons are shown in italics. The abbreviations stand for phenylalanine, leucine, isoleucine, methionine, valine, serine, proline, threonine, alanine, tyrosine, histidine, glutamine, asparagine, lysine, aspartate, glutamate, cysteine, tryptophan, arginine and glycine. The three ‘stop’ codons, UAA, UAG and UGA are given the whimsical names ochre, amber and opal, respectively.
Figure 3. The cis-trans complementation test. A wild-type gene (+) makes a functional protein, which is shown in the figure as a purple line. A mutant gene (m) makes a nonfunctional protein, which is shown in the figure as a blue line. If the two mutations, m1 and m2, affect different genes (top frames), a heterozygous cell that contains both mutations and their wild-type (+) counterparts will contain some functional protein product from each gene. This will be true whether the mutations are in the cis configuration or the trans configuration. If the two mutations affect the same gene (bottom frames), then the cis heterozygote will make some functional protein and will have the wild-type phenotype, but the trans heterozygote will make only nonfunctional protein and will have the mutant phenotype.
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 Further Reading
    book Alberts B, Johnson A and Lewis J et al. (2002) Molecular Biology of the Cell, 4th edn. New York: Garland.
    book Benzer S (1956) "The elementary units of heredity". In: McElroy WD and Glass B (eds) A Symposium on the Chemical Basis of Heredity. Baltimore, MD: The Johns Hopkins Press.
    book Cairns J, Stent GS and Watson JD (eds) (1992) Phage and the Origins of Molecular Biology. Plainview, NY: Cold Spring Harbor Laboratory Press.
    ePath European Bioinformatics Institute (EBI) at the European Molecular Biology Laboratory (EMBL-EBI) online genomics website: http://www.ebi.ac.uk/genomes/
    book Griffiths AJF, Gelbart WM, Miller JH and Lewontin RC (2002) Modern Genetic Analysis: Integrating Genes and Genomes, 2nd edn. New York: WH Freeman and Company.
    book Hartl D and Jones EW (2002) Essential Genetics: A Genomic Perspective, 3rd edn. Boston, MA: Jones and Bartlett.
    book Judson HF (1996) The Eighth Day of Creation: Makers of the Revolution in Biology. Plainview, NY: Cold Spring Harbor Laboratory Press.
    book Lodish H, Baltimore D and Berk A et al. (1995) Molecular Cell Biology, 3rd edn. New York: Scientific American Books.
    ePath Mendel GJ (1866) Experiments in Plant Hybridisation. Available online at: http://www.mendelweb.org/
    book Snustad DP and Simmons MJ (2003) Principles of Genetics, 3rd edn. New York: John Wiley and Sons.
    book Sturtevant AH (1965) A History of Genetics. New York: Harper and Row.
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Susman, Millard(May 2005) Genes: Definition and Structure. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0003852]