Pleiotropy

Created by Tousif Khan. Presented by Subham Karmakar

1. PLEIOTROPY CC 12, Principle of Genetics, SEM 5 Vijaygarh Jyotish Ray College, Zoology department Presented by : Subham Karmakar Tousif Khan Date – 07/10/2020

2. What is Pleiotropism? When a single pair of gene control the production of many characters, then it is called Pleiotropism . The gene is called pleiotropic gene . The term “pleiotropy” was coined in 1910 by Festschrift. 2 General Idea : Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. Mutation in a pleiotropic gene may have an effect on some or all traits. Mechanism of pleiotropy in most cases is the effect of a gene on metabolic pathways that contribute to different phenotypes.

3. 3 Example 1: Phenylketonuria (PKU) disease is an example of pleiotropy in human. Phenylketonuria is due to mutation in a single gene (pp) that codes for the enzyme Phenylalanine hydroxylase . Phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine. Due to mutation conversion of phenylalanine to tyrosine is reduced or ceased  entirely. This disease can also cause mental retardation and reduced hair and skin pigmentation.  Example 2: Dobzhansky (1927) has demonstrated that a gene for white eye in drosophila, may affect the shape of sperm storage organs in females as well as other structure.

4. 4 Example 3: For example, people with a hereditary disorder called Marfan syndrome caused by the mutation in FBN1 gene may have a set of seemingly unrelated symptoms, including the following: Unusually tall height Thin fingers and toes Dislocation of the lens of the eye Heart problems (in which the aorta, the large blood vessel carrying blood away from the heart, bulges or ruptures). These symptoms don’t seem directly related, but as it turns out, they can all be traced back to the mutation of a single gene. This gene encodes a protein that assembles into chains, making elastic fibrils that give strength and flexibility to the body’s connective tissues start superscript, 4, end superscript. Mutations that cause Marfan syndrome.

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