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A phenotype is any observable characteristic or trait of an organism: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest). Phenotypes result from the expression of an organism's genes as well as the influence of environmental factors and the interactions between the two.

The genotype of an organism is the inherited instructions it carries within its genetic code. Not all organisms with the same genotype look or act the same way because appearance and behavior are modified by environmental and developmental conditions. Similarly, not all organisms that look alike necessarily have the same 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.[1][2] 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.


Difficulties in definition

Despite its seemingly straightforward definition, the concept of the phenotype has some hidden subtleties. First, most of the molecules and structures coded by the genetic material are not visible in the appearance of an organism, yet they are observable (for example by Western blotting) and are thus part of the phenotype. Human blood groups are an example. So, by extension, the term phenotype must include characteristics that can be made visible by some technical procedure. Another extension adds behaviour to the phenotype since behaviours are also observable characteristics. Indeed there is research into the clinical relevance of behavioural phenotypes as they pertain to a range of syndromes.[3][4] Often, the term "phenotype" is incorrectly used as a shorthand to indicate phenotypical changes observed in mutated organisms (most often in connection with knockout mice).[5]

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 by natural selection.

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