Phenocopy

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A phenocopy is a variation in phenotype (generally referring to a single trait) which is caused by environmental conditions (often, but not necessarily, during the organism's development), such that the organism's phenotype matches a phenotype which is determined by genetic factors. It is not a type of mutation, as it is non-hereditary.

Contents

The term was coined by Richard Goldschmidt in 1935. [1] He used it to refer to forms, produced by some experimental procedure, whose appearance duplicates or copies the phenotype of some mutant or combination of mutants.

Examples

The butterfly genus Vanessa can change phenotype based on the local temperature. If introduced to Lapland they mimic butterflies localised to this area; and if localised to Syria they mimic butterflies of this area.

The larvae of Drosophila melanogaster have been found to be particularly vulnerable to environmental factors which produce phenocopies of known mutations; these factors include temperature, shock, radiation, and various chemical compounds. In fruit fly, Drosophila melanogaster, the normal body colour is brownish gray with black margins. A hereditary mutant for this was discovered by T.H. Morgan in 1910 where the body colour is yellow. This was a genotypic character which was constant in both the flies in all environments. However, in 1939, Rapoport discovered that if larvae of normal flies were fed with silver salts, they develop into yellow bodied flies irrespective of their genotype. [2] The yellow bodied flies which are genetically brown is a variant of the original yellow bodied fly.

Chocolate-colored male Himalayan rabbit HimalayanRabbit.jpg
Chocolate-colored male Himalayan rabbit

Phenocopy can also be observed in Himalayan rabbits. When raised in moderate temperatures, Himalayan rabbits are white in colour with black tail, nose, and ears, making them phenotypically distinguishable from genetically black rabbits. However, when raised in cold temperatures, Himalayan rabbits show black colouration of their coats, resembling the genetically black rabbits. Hence this Himalayan rabbit is a phenocopy of the genetically black rabbit. [3]

Reversible and/or cosmetic modifications such as the use of hair bleach are not considered to be phenocopy, as they are not inherent traits.

See also

Related Research Articles

<i>Drosophila</i> Genus of flies

Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies ; tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly.

Phenotype Composite of the organisms observable characteristics or traits

In genetics, the phenotype is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of 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. Richard Dawkins in 1978 and then again in his 1982 book The Extended Phenotype suggested that one can regard bird nests and other built structures such as caddis-fly larva cases and beaver dams as "extended phenotypes".

Wild type Phenotype of the typical form of a species as it occurs in nature

The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard "normal" allele at a locus, in contrast to that produced by a non-standard, "mutant" allele. "Mutant" alleles can vary to a great extent, and even become the wild type if a genetic shift occurs within the population. Continued advancements in genetic mapping technologies have created a better understanding of how mutations occur and interact with other genes to alter phenotype. It is now appreciated that most or all gene loci exist in a variety of allelic forms, which vary in frequency throughout the geographic range of a species, and that a uniform wild type does not exist. In general, however, the most prevalent allele – i.e., the one with the highest gene frequency – is the one deemed wild type.

<i>Drosophila melanogaster</i> Species of fruit fly

Drosophila melanogaster is a species of fly in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly" or "pomace fly". Starting with Charles W. Woodworth's proposal of the use of this species as a model organism, D. melanogaster continues to be widely used for biological research in genetics, physiology, microbial pathogenesis, and life history evolution. As of 2017, five Nobel Prizes have been awarded to drosophilists for their work using the animal.

A genetic screen or mutagenesis screen is an experimental technique used to identify and select for individuals who possess a phenotype of interest in a mutagenized population. Hence a genetic screen is a type of phenotypic screen. Genetic screens can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While genome projects have identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how those genes function.

Mosaic (genetics)

Mosaicism or genetic mosaicism is a condition in multi-cellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to mosaicism. In chimerism, though, the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development, rather than from a mutation or chromosome loss.

Forward genetics is a molecular genetics approach of determining the genetic basis responsible for a phenotype. Forward genetics methods begin with the identification of a phenotype, and finds or creates model organisms that display the characteristic being studied.

Non-Mendelian inheritance Type of pattern of inheritance

Non-Mendelian inheritance is any pattern of inheritance in which traits do not segregate in accordance with Mendel's laws. These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. In Mendelian inheritance, each parent contributes one of two possible alleles for a trait. If the genotypes of both parents in a genetic cross are known, Mendel's laws can be used to determine the distribution of phenotypes expected for the population of offspring. There are several situations in which the proportions of phenotypes observed in the progeny do not match the predicted values.

Richard Goldschmidt

Richard Benedict Goldschmidt was a German-born American geneticist. He is considered the first to attempt to integrate genetics, development, and evolution. He pioneered understanding of reaction norms, genetic assimilation, dynamical genetics, sex determination, and heterochrony. Controversially, Goldschmidt advanced a model of macroevolution through macromutations popularly known as the "Hopeful Monster" hypothesis.

In genetics, complementation occurs when two strains of an organism with different homozygous recessive mutations that produce the same mutant phenotype have offspring that express the wild-type phenotype when mated or crossed. Complementation will ordinarily occur if the mutations are in different genes. Complementation may also occur if the two mutations are at different sites within the same gene, but this effect is usually weaker than that of intergenic complementation. In the case where the mutations are in different genes, each strain's genome supplies the wild-type allele to "complement" the mutated allele of the other strain's genome. Since the mutations are recessive, the offspring will display the wild-type phenotype. A complementation test can be used to test whether the mutations in two strains are in different genes. Complementation ordinarily will occur more weakly or not at all if the mutations are in the same gene. The convenience and essence of this test is that the mutations that produce a phenotype can be assigned to different genes without the exact knowledge of what the gene product is doing on a molecular level. The complementation test was developed by American geneticist Edward B. Lewis.

Polyphenism Type of polymorphism where different forms of an animal arise from a single genotype

A polyphenic trait is a trait for which multiple, discrete phenotypes can arise from a single genotype as a result of differing environmental conditions. It is therefore a special case of phenotypic plasticity.

Test cross

Under the law of dominance in genetics, an individual expressing a dominant phenotype could contain either two copies of the dominant allele or one copy of each dominant and recessive allele. By performing a test cross, one can determine whether the individual is heterozygous or homozygous dominant.

The shaker (Sh) gene, when mutated, causes a variety of atypical behaviors in the fruit fly, Drosophila melanogaster. Under ether anesthesia, the fly’s legs will shake ; even when the fly is unanaesthetized, it will exhibit aberrant movements. Sh-mutant flies have a shorter lifespan than regular flies; in their larvae, the repetitive firing of action potentials as well as prolonged exposure to neurotransmitters at neuromuscular junctions occurs.

The term transheterozygote is used in modern genetics periodicals in two different ways. In the first, the transheterozygote has one mutant (-) and one wildtype allele (+) at each of two different genes. In the second, the transheterozygote carries two different mutated alleles of the same gene. This second definition also applies to the term "heteroallelic combination".

A phene is an individual genetically determined characteristic or trait which can be possessed by an organism, such as eye colour, height, behavior, tooth shape or any other observable characteristic.

Balancer chromosomes are a type of genetically engineered chromosome used in laboratory biology for the maintenance of recessive lethal mutations within living organisms without interference from natural selection. Since such mutations are viable only in heterozygotes, they cannot be stably maintained through successive generations and therefore continually lead to production of wild-type organisms, which can be prevented by replacing the homologous wild-type chromosome with a balancer. In this capacity, balancers are crucial for genetics research on model organisms such as Drosophila melanogaster, the common fruit fly, for which stocks cannot be archived. They can also be used in forward genetics screens to specifically identify recessive lethal mutations. For that reason, balancers are also used in other model organisms, most notably the nematode worm Caenorhabditis elegans and the mouse.

White (mutation)

white, abbreviated w, was the first sex-linked mutation discovered, found in the fruit fly Drosophila melanogaster. In 1910 Thomas Hunt Morgan and Lilian Vaughan Morgan collected a single male white-eyed mutant from a population of Drosophila melanogaster fruit flies, which usually have dark brick red compound eyes. Upon crossing this male with wild-type female flies, they found that the offspring did not conform to the expectations of Mendelian inheritance. The first generation produced 1,237 red-eyed offspring and three white-eyed male flies. The second generation produced 2,459 red-eyed females, 1,011 red-eyed males, and 782 white-eyed males. Further experimental crosses led them to the conclusion that this mutation was somehow physically connected to the "factor" that determined sex in Drosophila. This led to the discovery of sex linkage, in which the gene for a trait is found on a sex chromosome. Morgan named this trait white, now abbreviated w. Flies possessing the white allele are frequently used to introduce high school and college students to genetics.

Lethal alleles are alleles that cause the death of the organism that carries them. They are usually a result of mutations in genes that are essential for growth or development. Lethal alleles may be recessive, dominant, or conditional depending on the gene or genes involved. Lethal alleles can cause death of an organism prenatally or any time after birth, though they commonly manifest early in development.

A behaviour mutation is a genetic mutation that alters genes that control the way in which an organism behaves, causing their behavioural patterns to change.

Abdominal pigmentation in Drosophila melanogaster is a morphologically simple but highly variable trait that often has adaptive significance. Pigmentation has extensively been studied in Drosophila melanogaster. It has been used as a model for understanding the development and evolution of morphological phenotypes.

References

  1. Goldschmidt. R., 1935. Gen und Ausseneigenschaft. I. Zeitschr. ind. Abstl.69: 38-69
  2. Di Stefano, Henry S. “Effects of Silver Nitrate on the Pigmentation of Drosophila.” The American Naturalist, vol. 77, no. 768, 1943, pp. 94–96. https://www.jstor.org/stable/2457390
  3. Baum P, Schmid R, Ittrich C, Rust W, Fundel-Clemens K, et al. (2010)