This document discusses the genetic concept of pleiotropy. Pleiotropy occurs when a single gene has effects on multiple phenotypic traits. Mutation of a pleiotropic gene can impact some or all traits under its control. Examples given include the genetic disorder phenylketonuria, which is caused by mutation of a gene affecting the enzyme phenylalanine hydroxylase, resulting in both mental retardation and physical symptoms. Another example is Marfan syndrome, where mutation of the FBN1 gene leads to seemingly unrelated symptoms all tracing back to effects on connective tissue. Pleiotropy demonstrates how one gene can influence multiple characteristics through its effects on shared metabolic pathways and proteins.
This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
Introduction :
Mendel and subsequent workers assumed that a character was governed by a single gene.
But it was later discovered that many characters in almost all the organisms are governed by two or more genes. Such gene affect the development of concerned characters in various ways.
The phenomenon of two or more gene affecting the expression of each other in various ways in the development of a single character of on organism is known as gene interaction.
Basics of Undergraduate/university fellows
Epistasis is a Greek word that means standing over.
BATESON used term epistasis to describe the masking effect in 1909
The term epistasis describes a certain relationship between genes, where an allele of
one gene hides or masks the visible output or phenotype of another gene.
When two different genes which are not alleles, both affect the same character in such
a way that the expression of one masks (inhibits or suppresses) the expression of the
other gene, the phenomenon is said to be epistasis.
The gene that suppresses other gene expression is known as Epistatic gene.
The gene that is suppressed or remain obscure is called Hypostatic gene
The classical phenotypic ratio of 9:3:3:1 F2 ratio becomes modified by epistasis.
This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
Introduction :
Mendel and subsequent workers assumed that a character was governed by a single gene.
But it was later discovered that many characters in almost all the organisms are governed by two or more genes. Such gene affect the development of concerned characters in various ways.
The phenomenon of two or more gene affecting the expression of each other in various ways in the development of a single character of on organism is known as gene interaction.
Basics of Undergraduate/university fellows
Epistasis is a Greek word that means standing over.
BATESON used term epistasis to describe the masking effect in 1909
The term epistasis describes a certain relationship between genes, where an allele of
one gene hides or masks the visible output or phenotype of another gene.
When two different genes which are not alleles, both affect the same character in such
a way that the expression of one masks (inhibits or suppresses) the expression of the
other gene, the phenomenon is said to be epistasis.
The gene that suppresses other gene expression is known as Epistatic gene.
The gene that is suppressed or remain obscure is called Hypostatic gene
The classical phenotypic ratio of 9:3:3:1 F2 ratio becomes modified by epistasis.
Allelic and Non-allelic interactions : Complete dominance; Incomplete dominance-in Four O'clock plant, Mirabilis jalapa and Snapdragon, Antirrhinum majus ; Co-dominance- MN blood group, AB blood group, Roan coat colour in shorthorn breed of cattle; Inheritance of Comb pattern in Poultry; Epistasis -Dominant - Fruit colour in Summer squash, Recessive - Coat colour in mice; Complementary gene interaction -Purple flower colour in Sweet pea (Lathyrus odoratus)
Inability of a plant with functional pollen to set seed when self-pollinated.
Hindrance to self-fertilization.
Prevents inbreeding and promotes outcrossing.
Reported in about 70 families of angiosperms including crop species.
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
According to Hardy (England,1908) and Weinberg (Germany,1909), gene and genotype frequency of a Mendelian population remain constant generation after generation unless there is selection,mutation,migration or random drift.
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that code for a product that is either used by various cells or has a cascade-like signaling function that affects various targets.
Allelic and Non-allelic interactions : Complete dominance; Incomplete dominance-in Four O'clock plant, Mirabilis jalapa and Snapdragon, Antirrhinum majus ; Co-dominance- MN blood group, AB blood group, Roan coat colour in shorthorn breed of cattle; Inheritance of Comb pattern in Poultry; Epistasis -Dominant - Fruit colour in Summer squash, Recessive - Coat colour in mice; Complementary gene interaction -Purple flower colour in Sweet pea (Lathyrus odoratus)
Inability of a plant with functional pollen to set seed when self-pollinated.
Hindrance to self-fertilization.
Prevents inbreeding and promotes outcrossing.
Reported in about 70 families of angiosperms including crop species.
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
According to Hardy (England,1908) and Weinberg (Germany,1909), gene and genotype frequency of a Mendelian population remain constant generation after generation unless there is selection,mutation,migration or random drift.
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that code for a product that is either used by various cells or has a cascade-like signaling function that affects various targets.
Effects of Gene Mutation. 2Running Head EFFECTS OF GENE MUT.docxjack60216
Effects of Gene Mutation. 2
Running Head: EFFECTS OF GENE MUTATION
Effects of Gene Mutation
Name:
Institution:
Date:
Effects of Gene Mutation
What are the effects of gene mutation and its future in humanity?
Mutations are visible changes in chromosomes as well as genes. The process of mutation can happen within the cell or be transmitted from one cell to another in a multicellular organism. Rates of mutation differ from one organism to another, from one place to another, time to time and from one gene to another. DNA genes are frequently changing; mutation can be seen as accidental changes that leads to malformed proteins hence disease. Our lives begin with mutations inherited from the parents. The inherited gene mutation is germ-line mutations. Some mutations can be harmful while some beneficial. With time, genetic mutation brings about diversity which in turn sustains populations healthy. There are also silent mutations which have no effects (Adeniran, 2014).
Presence of DNA in our body cells provides a place for mutation to take place. But r, some of these transformations can fail to be transmitted to the offspring and fail to be considered for evolution. This condition is described as somatic mutation. Many times mutation is seen as insignificant cause of genetic ailment. As they display undesirable effects, contrary to many expectations, some mutations can have positive effects (U E, n.d).
A number of organisms have strong regulating genes that assist in determining how the body is laid off. A case in point is Hox genes which are common among animals that designate the direction of the head at the same time determining the place for appendages. To this extend therefore the transformation in primary body layout may not be avoided; instead it may need transformation in Hox gene and promote the natural selection (U E, n.d).
What remain common in most of the people are the harmful mutations that cause diseases. Cystic fibrosis and sickle cell anemia among other genes are examples of inherited gene disorders. These inherited genetic diseases in most cases are recessive and they exist in pairs (Adeniran, 2014).
Scientists approximate that a very human being has about 5-10 prospective deadly mutations. In most cases cancer is the resultant of these series mutations in a cell. In most cases this problem is as a result of p53 gene that brings the mutated cells to a standstill (Adeniran, 2014).
Categorization of Gene Mutations
A gene mutation is an eternal change in DNA arrangement making up a gene. This arrangement varies from majority of persons, ranging from DNA building block and gene size. Mutation of genes can be categorized into two: First is the hereditary mutation which is inheritable from the parent of child. Germ line mutations are responsible for these hereditary mutations, because of their presence in the parent sperm or egg cells (Harten, 1998).
Second is Acquired mutations which occurs specifically at some po ...
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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 :
1. Pleiotropy describes the genetic effect of a single gene on multiple
phenotypic traits.
2. Mutation in a pleiotropic gene may have an effect on some or all traits.
3. Mechanism of pleiotropy in most cases is the effect of a gene on metabolic
pathways that contribute to different phenotypes.
3. 3
Example 1:
1. Phenylketonuria (PKU) disease is an example of pleiotropy in human.
2. Phenylketonuria is due to mutation in a single gene (pp) that codes for the
enzyme Phenylalanine hydroxylase.
3. Phenylalanine hydroxylase converts the amino acid phenylalanine to
tyrosine.
4. Due to mutation conversion of phenylalanine to tyrosine is reduced or
ceased entirely.
5. 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:
I. Unusually tall height
II. Thin fingers and toes
III. Dislocation of the lens of the eye
IV. 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.
