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12.12:

Los antecedentes y el ambiente afectan el fenotipo

JoVE Core
Molecular Biology
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JoVE Core Molecular Biology
Background and Environment Affect Phenotype

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An organism’s phenotype can be influenced by several factors other than genotype, including genetic background and the environment. Sometimes, these effects can happen simultaneously. The "genetic background" represents all of the related genes in a genome that may interact with the gene of interest. The environment, on the other hand, encompasses many external factors that an organism may encounter, including temperature, diet, and light conditions. Mutations in multiple related genes can affect the phenotype of an organism. For example, the brick red-eye color of wild type Drosophila is due to the presence of two pigments, ommochrome and drosopterin, which are regulated by three genes. The vermilion gene is the first step in a pathway that produces the brown ommochrome pigment. The brown gene encodes a membrane transport protein that is required for the production of the red pigment, drosopterin. The white gene is responsible for carrying these pigments to the eye. Mutations in the vermillion gene produce a fly with bright red eyes, while a mutation in the brown gene produces brown-eyed fly. However, mutation in the white gene results in a white-eyed fly, even if the other two genes are functional.  Temperature, one of many environmental factors, plays a vital role in determining the sex of developing European pond turtles. When the eggs are incubated at 25˚C, gonadal tissues develop into testes and all of the offspring are male. When the eggs are incubated at 30˚C, however, gonadal tissues develop into ovaries and all of the offspring are female. This period, in which gonadal tissue is responsive to temperature, is called the thermosensitive period. An alteration occurs in gonadal tissue because the expression of Sox9 gene changes in response to temperature. At lower temperatures, the expression is high, and at higher temperatures, the expression is repressed. This variable expression leads to observable changes in phenotype – offspring sex.

12.12:

Los antecedentes y el ambiente afectan el fenotipo

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.

An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A modifier gene called cream dilution has two alleles: Ccr and C. The Ccr dilutes the coat color from red to yellow when present in the heterozygous state and from red to cream when present in the homozygous state. However, the C allele does not affect coat color. Thus, the horses with genotype eeCC have a reddish-brown coat, tails, and mane, while those with genotype eeCcrC have a gold coat with a white tail and mane.

In contrast, in some organisms like Siamese cats, the coat color is highly sensitive to changes in temperature. These cats show partial albinism due to a mutation in an enzyme involved in the production of melanin. The enzyme is active in colder areas of the skin, which results in a darker color, while it’s inactive in warmer regions of the skin resulting in a lighter color. This results in the breed’s characteristic dark fur on the face and on the extremities.

Similarly, the presence of drugs or chemicals in an organism's immediate environment can also influence gene expression in the organism. For example, C. R. Stockard showed that the Fundulus heteroclitus fish developed just a single eye when the fertilized egg was placed in the magnesium chloride solution.

In conclusion, there is a complex interaction between the genotype and the environmental factors of an organism that can lead to variable phenotypes.

Suggested Reading

  1. Tesfaye M Baye, Tilahun Abebe, and Russell A Wilke. Genotype–environment interactions and their translational implications. Per Med. 2011 Jan; 8(1): 59–70. DOI: 10.2217/pme.10.75
  2. Phillip Gienapp, Veronika N. Laine, A. C. Mateman, Kees van Oers and Marcel E. Visser. Environment-Dependent Genotype-Phenotype Associations in Avian Breeding Time. Front. Genet., 04 August 2017. https://doi.org/10.3389/fgene.2017.00102