A mutation in a gene can result in pleiotropy. One example of pleiotropy is Marfan syndrome, a human genetic disorder affecting the connective tissues. This disease commonly affects the eyes, heart, blood vessels, and skeleton. Marfan Syndrome is caused by a mutation in a human gene resulting in pleiotropy.
Is epistasis same as pleiotropy?
Pleiotropy, in which one mutation causes multiple phenotypes, has traditionally been seen as a deviation from the conventional observation in which one gene affects one phenotype. Epistasis, or gene-gene interaction, has also been treated as an exception to the Mendelian one gene-one phenotype paradigm.
What is the difference between pleiotropy and polygenic inheritance?
Some people confuse pleiotropy and polygenic inheritance. The major difference between the two is that pleiotropy is when one gene affects multiple characteristics (e.g. Marfan syndrome) and polygenic inheritance is when one trait is controlled by multiple genes (e.g. skin pigmentation).
What is a good example of pleiotropy?
An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine, an amino acid that can be obtained from food, in the human body. Phenylketonuria causes this amino acid to increase in amount in the body, which can be very dangerous.
What is the most common example of pleiotropy in human?
One of the most widely cited examples of pleiotropy in humans is phenylketonuria (PKU). This disorder is caused by a deficiency of the enzyme phenylalanine hydroxylase, which is necessary to convert the essential amino acid phenylalanine to tyrosine.
Is pleiotropy a disorder?
Pleiotropy refers to disorders where multiple, seemingly unrelated organ systems are affected. For example, one individual in a pedigree may exhibit cardiac arrhythmia, whereas another individual with the same disorder in either the same or different pedigree shows muscle weakness and deafness.
What is an example of polygenic inheritance?
Some examples of polygenic inheritance are: human skin and eye color; height, weight and inteligence in people; and kernel color of wheat. In polygenic inheritance the “dominant” capital genes are additive, each capital gene adding one unit of color to the genotype.
How does polygenic inheritance work?
Polygenic inheritance occurs when one characteristic is controlled by two or more genes. Often the genes are large in quantity but small in effect. Examples of human polygenic inheritance are height, skin color, eye color and weight.
What is the difference between pleiotropy and epistasis?
Pleiotropy occurs when a single gene affects multiple phenotypic traits. Some genes affect many different traits. They do not code for a single characteristic. According to pleiotropy, one gene contributes to multiple unrelated characteristics. For example, the gene coding for seed coat colour is not only responsible for seed coat colour,
What are examples of pleiotropy and polygenic inheritance?
Both pleiotropy and polygenic inheritance occur in all living organisms. Albinism, phenylketonuria, autism, schizophrenia, sickle cell anemia, and Marfan syndrome are examples of pleiotropy.
Are there any genetic disorders that are pleiotropic?
Genes affected in human genetic disorders are often pleiotropic. For example, people with the hereditary disorder Marfan syndrome may have a constellation of seemingly unrelated symptoms :
What does pleio stand for in pleiotropy?
Genes of this kind that control multiple and unrelated features are called pleiotropic where the term pleio refers to many and tropic indicates effects. In this manner, the discrete phenotypes could be identified back to a defect in one gene with different jobs.