In biology the genome of an organism is the whole hereditary information of an organism that is encoded in the DNA (or, for some viruses, RNA). This includes both the genes and the non-coding sequences. The term was coined in 1920 by Hans Winkler, Professor of Botany at the University of Hamburg, Germany, as a portmanteau of the words gene and chromosome.
More precisely, the genome of an organism is a complete DNA sequence of one set of chromosomes; for example, one of the two sets that a diploid individual carries in every somatic cell. The term genome can be applied specifically to mean the complete set of nuclear DNA (i.e., the "nuclear genome") but can also be applied to organelles that contain their own DNA, as with the mitochondrial genome or the chloroplast genome. When people say that the genome of a sexually reproducing species has been "sequenced," typically they are referring to a determination of the sequences of one set of autosomes and one of each type of sex chromosome, which together represent both of the possible sexes. Even in species that exist in only one sex, what is described as "a genome sequence" may be a composite from the chromosomes of various individuals. In general use, the phrase "genetic makeup" is sometimes used conversationally to mean the genome of a particular individual or organism. The study of the global properties of genomes of related organisms is usually referred to as genomics, which distinguishes it from genetics which generally studies the properties of single genes or groups of genes.
In vertebrates such as humans, however, "genome" carries the typical connotation of only chromosomal DNA. So although human mitochondria contain genes, these genes are not considered part of the genome. In fact, mitochondria are sometimes said to have their own genome, often referred to as the "mitochondrial genome".
Although this concept may seem counter intuitive, it is the same concept that says there is no particular shape that is the shape of a cheetah. Cheetahs vary, and so do the sequences of their genomes. Yet both the individual animals and their sequences share commonalities, so one can learn something about cheetahs and "cheetah-ness" from a single example of either.
The Human Genome Project was organized to map and to sequence the human genome. Other genome projects include mouse, rice, the plant Arabidopsis thaliana, the puffer fish, bacteria like E. coli, etc. Many genomes have been sequenced by various genome projects. The cost of sequencing continues to drop, and it is possible that eventually an individual's genome could be sequenced for around several thousand dollars (US).
Compare: proteome
| Organism | Genome size (base pairs) |
|---|---|
| Virus, Phage Φ-X174; | 5386 - First sequenced genome |
| Virus, Phage λ | 5×104 |
| Archaeum, Nanoarchaeum equitans | 5×105 - Smallest non-viral genome Dec, 2005 |
| Bacterium, Buchnera aphidicola | 6×105 |
| Bacterium, Wigglesworthia glossinidia | 7×105 |
| Bacterium, Escherichia coli | 4×106 |
| Amoeba, Amoeba dubia | 6.7×1011 - Largest known genome Dec, 2005 |
| Plant, Fritillary assyrica | 1.3×1011 |
| Fungus,Saccharomyces cerevisiae | 2×107 |
| Nematode, Caenorhabditis elegans | 8×107 |
| Insect, Drosophila melanogaster | 2×108 |
| Mammal, Homo sapiens | 3×109 |
Duplications play a major role in shaping the genome. Duplications may range from extension of short tandem repeats, to duplication of a cluster of genes, and all the way to duplications of entire chromosomes or even entire genomes. Such duplications are probably fundamental to the creation of genetic novelty.
Horizontal gene transfer is invoked to explain how there is often extreme similarity between small portions of the genomes of two organisms that are otherwise very distantly related. Horizontal gene transfer seems to be common among many microbes. Also, eukaryotic cells seem to have experienced a transfer of some genetic material from their chloroplast and mitochondrial genomes to their nuclear chromosomes.
Benfey, P and Protopapas, AD (2004). Essentials of Genomics. Prentice Hall.
Brown, TA (2002). Genomes 2. Bios Scientific Publishers.
Gibson, G and Muse, SV (2004). A Primer of Genome Science (Second Edition). Sinauer Assoc.
Gregory, TR (ed) (2005). The Evolution of the Genome. Elsevier.
Reece, RJ (2004). Analysis of Genes and Genomes. John Wiley & Sons.
Saccone, C and Pesole, G (2003). Handbook of Comparative Genomics. John Wiley & Sons.
Werner, E. In silico multicellular systems biology and minimal genomes, Drug Discov Today. 2003 Dec 15;8(24):1121-7.
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