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Phenotype
A phenotype (from Greek phainein , meaning 'to show ', and typos , meaning
'type') is the composite of an organism's observable characteristics or traits, such
as its morphology, development, biochemical or physiological properties,
behavior, and products of behavior (such as a bird's nest). A phenotype results
from the expression of an organism's genetic code, its genotype, as well as the
influence of environmental factors and the interactions between the two. When
two or more clearly different phenotypes exist in the same population of a
species, the species is called polymorphic. A well-documented polymorphism is
Labrador Retriever coloring; while the coat color depends on many genes, it is
clearly seen in the environment as yellow, black and brown.

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 The shells of individuals within the
Weismann, who distinguished between germ plasm (heredity) and somatic cells bivalve mollusk species Donax variabilis
show diverse coloration and patterning in
(the body). The genotype-phenotype distinction should not be confused with
their phenotypes.
Francis Crick's central dogma of molecular biology, which is a statement about
the directionality of molecular sequential information flowing from DNA to
protein, and not the reverse.

Richard Dawkins in 1978[3] and then again in his 1982 book The Extended Phenotype
suggested that bird nests and other built structures such as caddis fly larvae cases and
beaver dams can be considered as "extended phenotypes".

Contents
1 Difficulties in definition
2 Phenotypic variation
2.1 The extended phenotype Here the relation between genotype
and phenotype is illustrated, using a
3 Phenome and phenomics
Punnett square, for the character of
4 See also petal color in pea plants. The letters
5 References B and b represent genes for color,
6 External links and the pictures show the resultant
flowers.

Difficulties in definition
The term "phenotype" has sometimes been incorrectly used as a shorthand for phenotypic difference from wild type, bringing the
absurd statement that a mutation has no phenotype.[4]

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Despite its seemingly straightforward definition, the concept of the phenotype has hidden subtleties. It may seem that anything
dependent on the genotype is a phenotype, including molecules such as RNA and proteins. Most 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. It may seem that this goes beyond the original intentions of the
concept with its focus on the (living) organism in itself. Either way, the term phenotype includes traits or characteristics that can be
made visible by some technical procedure. A notable extension to this idea is the presence of "organic molecules" or metabolites that
are generated by organisms from chemical reactions of enzymes.

Another extension adds behavior to the phenotype, since behaviors are observable characteristics. Behavioral phenotypes include
cognitive, personality, and behavioral patterns. Some behavioral phenotypes may characterize psychiatric disorders[5] or
syndromes.[6][7]

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.[8]
Biston betularia morpha typica, the
The interaction between genotype and phenotype has often been conceptualized by the standard light-colored peppered
following relationship: moth

genotype (G) + environment (E) phenotype (P)

A more nuanced version of the relationship is:

genotype (G) + environment (E) + genotype & environment

interactions (GE) phenotype (P)

Genotypes often have much flexibility in the modification and expression of B.betularia morpha carbonaria, the
phenotypes; in many organisms these phenotypes are very different under varying melanic form, illustrating
environmental conditions (see ecophenotypic variation). The plant Hieracium discontinuous variation
umbellatum is found growing in two different habitats in Sweden. One habitat is rocky,
sea-side cliffs, where the plants are bushy with broad leaves and expanded
inflorescences; the other is among sand dunes where the plants grow prostrate with narrow leaves and compact inflorescences. These
habitats alternate along the coast of Sweden and the habitat that the seeds of Hieracium umbellatum land in, determine the phenotype
that grows.[9]

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.

The concept of phenotype can be extended to variations below the level of the gene that affect an organism's fitness. For example,
silent mutations that do not 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) than adenine-thymine, a property that might
convey, among organisms living in high-temperature environments, a selective advantage on variants enriched in GC content.

The extended phenotype

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The term extended phenotype refers to the idea that a phenotype is not restricted to biological processes but includes all effects that a
gene has on its surroundings. The concept generalized by Richard Dawkins explains that phenotype includes all the influence a gene
has on the environment and other organisms. One can begin to understand the concept of extended phenotype through the central
theorem of the extended phenotype: "An animal's behavior tends to maximize the survival of the genes 'for' that behavior, whether or
not those genes happen to be in the body of the particular animal performing it." [3]

There are three types of extended phenotypes. The first describes an organism using architectural constructions to modify their
environment for living. The most common example given by Dawkins is the beaver. For instance, a beaver dam might be considered a
phenotype of beaver genes, the same way a beaver's powerful incisor teeth are phenotypic expressions of its genes. A beaver uses
these incisors to modify its environment. This influence of a gene on the environment is an example of an extended phenotype.

Dawkins cites the effect of an organism on the behavior of another organism (such as the devoted nurturing of a cuckoo by a parent of
a different species) as an example of the extended phenotype as well as parasites living inside the body of a host. The first example he
used was sporocysts of flukes of the genus Leucochloridium that invade the tentacles of snails where they can be seen conspicuously
pulsating through the snail's skin. This change in both color and behavior (infected snails move upwards on vegetation) increases, it is
suggested, predation on the snail, and thereby assists the parasite's entry into its final host, a bird.

The third example of the extended phenotype is "Action at a Distance". This is where genes in one organism affect the behavior of
another organism. The examples Dawkins used were genes in orchids affecting orchid bee behavior (to increase pollination), genes in
rattlesnakes causing avoidance behavior in other animals, and genes in male peacocks affecting copulatory decisions of peahens.

The smallest unit of replicators is the gene. Replicators cannot be directly selected upon, but they are selected on by their phenotypic
effects. These effects are packaged together in organisms. We should think of the replicator as having extended phenotypic effects.
These are all of the ways it affects the world, not just the effects the replicators have on the body in which they reside.[10]

Phenome and phenomics

Although a phenotype is the ensemble of observable characteristics displayed by an organism, the word phenome is sometimes used to
refer to a collection of traits, while the simultaneous study of such a collection is referred to as phenomics.[11][12] Phenomics is an
important field of study because it can be used to figure out which genomic variants affect phenotypes which then can be used to
explain things like health, disease, and evolutionary fitness.[13] Phenomics forms a large part of the Human Genome Project[14]

Phenomics has widespread applications in the agricultural industry. With an exponentially growing population and inconsistent
weather patterns due to global warming, it has become increasingly difficult to cultivate enough crops to support the worlds
population. Advantageous genomic variations, like drought and heat resistance, can be identified through the use of phenomics to
create more durable GMOs.[15][16]

Phenomics is also a crucial stepping stone towards personalized medicine, particularly drug therapy. This application of phenomics
has the greatest potential to avoid testing drug therapies that will prove to be ineffective or unsafe.[17] Once the phenomic database has
acquired more data, patient phenomic information can be used to select specific drugs tailored to the patient. As the regulation of
phenomics develops there is a potential that new knowledge bases will help achieve the promise of personalized medicine and
treatment of neuropsychiatric syndromes.

See also
Ecotype
Endophenotype
Genotype-phenotype distinction
Molecular phenotyping

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References
1. Churchill, F.B. (1974). "William Johannsen and the genotype concept". Journal of the History of Biology. 7: 530.
doi:10.1007/BF00179291 (https://doi.org/10.1007%2FBF00179291).
2. Johannsen, W. (1911). "The genotype conception of heredity". American Naturalist. 45 (531): 129159.
doi:10.1086/279202 (https://doi.org/10.1086%2F279202). JSTOR 2455747 (https://www.jstor.org/stable/2455747).
3. Dawkins, Richard (12 January 1978). "Replicator Selection and the Extended Phenotype3". Ethology. 47 (1 January
December 1978): 6176. doi:10.1111/j.1439-0310.1978.tb01823.x (https://doi.org/10.1111%2Fj.1439-0310.1978.tb01
823.x). PMID 696023 (https://www.ncbi.nlm.nih.gov/pubmed/696023).
4. Crusio, Wim E. (May 2002). " 'My mouse has no phenotype' " (http://www3.interscience.wiley.com/resolve/openurl?ge
nre=article&sid=nlm:pubmed&issn=1601-1848&date=2002&volume=1&issue=2&spage=71). Genes, Brain and
Behavior. 1 (2): 71. doi:10.1034/j.1601-183X.2002.10201.x (https://doi.org/10.1034%2Fj.1601-183X.2002.10201.x).
PMID 12884976 (https://www.ncbi.nlm.nih.gov/pubmed/12884976). Retrieved 2009-12-29.
5. Cassidy, Suzanne B.; Morris, Colleen A. (2002-01-01). "Behavioral phenotypes in genetic syndromes: genetic clues to
human behavior". Advances in Pediatrics. 49: 5986. PMID 12214780 (https://www.ncbi.nlm.nih.gov/pubmed/122147
80).
6. O'Brien, Gregory; Yule, William, eds. (1995). Behavioural Phenotype. Clinics in Developmental Medicine No.138.
London: Mac Keith Press. ISBN 1-898683-06-9.
7. O'Brien, Gregory, ed. (2002). Behavioural Phenotypes in Clinical Practice (https://books.google.com/?id=flz27_U0Ahg
C&printsec=frontcover&dq=%22behavioural+phenotypes+in+clinical+practice%22#v=onepage&q&f=false). London:
Mac Keith Press. ISBN 1-898683-27-1. Retrieved 27 September 2010.
8. Lewontin, R. C. (November 1970). "The Units of Selection" (http://joelvelasco.net/teaching/167/lewontin%2070%20-%
20the%20units%20of%20selection.pdf) (PDF). Annual Review of Ecology and Systematics. Palo Alto, CA: Annual
Reviews. 1: 118. doi:10.1146/annurev.es.01.110170.000245 (https://doi.org/10.1146%2Fannurev.es.01.110170.000
245). JSTOR 2096764 (https://www.jstor.org/stable/2096764).
9. "Botany online: Evolution: The Modern Synthesis - Phenotypic and Genetic Variation; Ecotypes" (http://www.biologie.
uni-hamburg.de/b-online/e37/37b.htm). Retrieved 2009-12-29.
10. Dawkins, Richard (1982). The Extended Phenotype. Oxford University. p. 4. ISBN 0-19-288051-9.
11. Mahner, M. & Kary, M. (1997). "What exactly are genomes, genotypes and phenotypes? And what about
phenomes?". Journal of Theoretical Biology. 186: 5563. doi:10.1006/jtbi.1996.0335 (https://doi.org/10.1006%2Fjtbi.1
996.0335).
12. Varki, A; Wills, C; Perlmutter, D; Woodruff, D; Gage, F; Moore, J; Semendeferi, K; Bernirschke, K; Katzman, R; et al.
(1998). "Great Ape Phenome Project?". Science. 282 (5387): 239240. Bibcode:1998Sci...282..239V (http://adsabs.h
arvard.edu/abs/1998Sci...282..239V). doi:10.1126/science.282.5387.239d (https://doi.org/10.1126%2Fscience.282.53
87.239d). PMID 9841385 (https://www.ncbi.nlm.nih.gov/pubmed/9841385).
13. Houle, David; Govindaraju, Diddahally R.; Omholt, Stig (December 2010). "Phenomics: the next challenge" (https://d
x.doi.org.proxy.lib.fsu.edu/10.1038/nrg2897). Nature Reviews Genetics. 11 (12): 855866. doi:10.1038/nrg2897 (http
s://doi.org/10.1038%2Fnrg2897). PMID 21085204 (https://www.ncbi.nlm.nih.gov/pubmed/21085204).
14. Freimer, Nelson; Sabatti, Chiara (May 2003). "The Human Phenome Project" (http://www.nature.com/doifinder/10.103
8/ng0503-15). Nature Genetics. 34 (1): 1521. doi:10.1038/ng0503-15 (https://doi.org/10.1038%2Fng0503-15).
PMID 12721547 (https://www.ncbi.nlm.nih.gov/pubmed/12721547).
15. Rahman, Hifzur; Ramanathan, Valarmathi; Jagadeeshselvam, N.; Ramasamy, Sasikala; Rajendran, Sathishraj;
Ramachandran, Mahendran; Sudheer, Pamidimarri D. V. N.; Chauhan, Sushma; Natesan, Senthil (2015-01-01). Barh,
Debmalya; Khan, Muhammad Sarwar; Davies, Eric, eds. PlantOmics: The Omics of Plant Science (https://link.springe
r.com/chapter/10.1007/978-81-322-2172-2_13). Springer India. pp. 385411. doi:10.1007/978-81-322-2172-
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16. Furbank, Robert T.; Tester, Mark (2011-12-01). "Phenomics technologies to relieve the phenotyping bottleneck" (htt
p://www.sciencedirect.com/science/article/pii/S1360138511002093). Trends in Plant Science. 16 (12): 635644.
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17. Monte, Andrew A.; Brocker, Chad; Nebert, Daniel W.; Gonzalez, Frank J.; Thompson, David C.; Vasiliou, Vasilis
(2014-12-01). "Improved drug therapy: triangulating phenomics with genomics and metabolomics" (https://link.springe
r.com/article/10.1186/s40246-014-0016-9). Human Genomics. 8 (1): 16. doi:10.1186/s40246-014-0016-9 (https://doi.o
rg/10.1186%2Fs40246-014-0016-9). PMC 4445687 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445687) .
PMID 25181945 (https://www.ncbi.nlm.nih.gov/pubmed/25181945).

External links
Mouse Phenome Database (http://www.jax.org/phenome)
Human Phenotype Ontology (http://www.human-phenotype-ontology.org)
Europhenome: Access to raw and annotated mouse phenotype data (http://www.europhenome.org)
"Wilhelm Johannsen's Genotype-Phenotype Distinction" by E. Peirson at the Embryo Project Encyclopedia (http://em
bryo.asu.edu/handle/10776/4206/)

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