The
phenotype describes the total physical appearance of an
organism, as opposed to its
genotype. This
genotype-phenotype distinction was proposed by
Wilhelm Johannsen in 1911 to make clear the difference between an organism's
heredity and what that heredity produces. The distinction is similar to that proposed by
August Weismann, who distinguished between
germ plasm (heredity) and
somatic cells (the body). A more modern version is
Francis Crick's
Central dogma of molecular biology.
Despite its seemingly straightforward definition, the concept of the phenotype has some hidden subtleties. In the first place, most of the molecules and structures coded by the genetic material are not visible in the appearance of an organism, yet is part of the phenotype. Human
blood groups are an example. Therefore, by extension, the term phenotype must include characteristics that can be made visible by some technical procedure. A further, and more radical, extension would add inherited behaviour to the phenotype.
Secondly, the phenotype isn't simply a product of the genotype, but is influenced by the environment to a greater or lesser extent (see also
phenotypic plasticity). And further, if the genotype is defined narrowly then it must be remembered that not all heredity is carried by the
nucleus.
Mitochondria, for example, divide in unison with the nucleus, but transmit their own
DNA directly, not via the nucleus.
The phenotype is composed of
traits or characteristics . Some phenotypes are controlled entirely by the individual's
genes. Others are controlled by genes but are significantly affected by extragenetic or environmental factors. Almost all humans inherit the
capacity to speak and understand language, but which language they learn is entirely an environmental matter.
Phenotypic variation
Phenotypic variation (due to underlying heritable
genetic variation) is a fundamental prerequisite for
evolution by
natural selection. It is the living organism as a whole that contributes (or not) to the next generation, so natural selection affects the genetic structure of a population indirectly via the contribution of phenotypes. Without phenotypic variation, there would be no evolution.
The interaction between genotype and phenotype has often been conceptualized by the following relationship:
» genotype + environment → phenotype
A slightly more nuanced version of the relationships is:
» genotype + environment + random-variation → phenotype
An example of random variation in
Drosophila flies is the number of
ommatidia, which may vary (randomly) between left and right eyes in a single individual as much as they do between different genotypes overall, or between
clones raised in different environments.
A phenotype is any detectable characteristic of an organism (for example, structural, biochemical, physiological and behavioral) determined by an interaction between its genotype and environment (of this distinction).
According to the
autopoietic notion of living systems by
Humberto Maturana, the phenotype is epigenetically being constructed throughout
ontogeny, and we as observers make the distinctions that define any particular trait at any particular state of the organism's life cycle.
The idea of the phenotype has been generalized by
Richard Dawkins in
The Extended Phenotype to mean all the effects a gene has on the outside world which may influence its chances of being replicated. These can be effects on the organism in which the gene resides, the environment or other organisms. For instance, a
beaver dam might be considered a phenotype of
beaver genes, the same way beaver's powerful
incisor teeth are phenotype expressions of their genes.
The concept of phenotype can be extended to variations below the level of the gene that effect an organism's fitness. For example,
silent mutations that don't change the corresponding amino acid sequence of a gene may change the frequency of
guanine-
cytosine base pairs (
GC content). These base pairs have a higher thermal stability ("melting point", see also
DNA-DNA hybridization) than
adenine-
thymine, a property that might convey, among organisms living in high temperature environments, a selective advantage on variants enriched in GC content.
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