GENE

FAWAD ULLAH
MEDICAL LAB TECHNOLOGY 4TH
ABOTTABAD UNIVERSITY OF SCIENCE AND
TECHNOLOGY
Contents:
 History of gene. DNA

 Definition of gene. chromosome

 Term related to gene. cell

 Classical concept of gene.

Gene
 Modern concept of gene.
 Gene types.
 Gene action.
nucleus
 Role of gene in protein synthesis.

a) structural gene
b) operator genes.
c) regulatory gene.
 Essential feature.
History of gene:
Charles
 Darwin (1868) give the idea of heredity unit
and published his theory pangenesis.

Hugo
 de varies in 1890s took the term pangenesis
and trimmed it to pangene Charles Darwin
he
 proposed theory of intracellular pangenesis. (1809-1882)

that
 lead de varies to what Gregor Mendel has
discover 30 years earlier in his work.

he
 state that there is a unit of inheritance that
are transmitted by reproduction.
Hugo de varies
(1845-1935)
conti:
 Francis galton (1870) discredited the theory of
pangenesis by experimental work.
Francis galton
(1853-1897)
 Wilhelm Johansson in 1909 introduce the term Gene.

 William Bateson in 1906 coined the

word ‘Genetics’.

Wilhelm Johansson
William Bateson
(1857-1927)
(1861-1926)
Summary of evolution of gene concept:
year scientist Concept of gene
1866 G.J MENDEL A unit factor that controls specific
phenotypic trait.

1868 CHARLES DARWIN He state that there is a unit circulating

called Gemmules are accumulated in
gonads and transmitted to offspring.

1890 HUGO DE VARIES He took the term pangenesis and

trimmed it to pangene.

1909 WELHELM For the first time introduce the term

JOHANSSON Gene.

1906 WILLIAM BATESON He introduce the word Genetics.

Definition of gene:
 The gene is to genetics is same as what the atom is to
chemistry.

 “The gene is the unit of genetic information that controls

specific characteristics”.

 The gene is the unit of genetic information that specifies

the synthesis of one polypeptide.
Conti…
 Genes are the part of DNA molecule which is regarded as the
genetic material.

 T.M MORGAN proposed the gene theory which state that;

 Chromosomes bears heredity units and each chromosomes carries
hundred or thousand of genes.
 Gene are present on region of chromosomes called locus .see in the figure1.1.

Figure 1.1
What is gene?
 Until 1940, the gene is consider as the basic unit of genetic information as
defined by following criteria.

 The unit of function, controlling the inheritance of one “character”.

 The unit of structure, operationally defined by recombination and by mutation.

 So “the gene is the basic functional unit and the smallest genetic
structural unit”.
Term related to gene:
 Cistron:
o it is the unit of function.
o It is capable of synthesizing a polypeptide chain of an enzyme or protein.
o It express as protein through transcription and translation.
 Muton:
o It is called unit of mutation.
o Smallest part of gene which is involved in mutation.
o Smallest unit of gene which produce measurable effect on
phenotype. See in figure 1.2.
Conti:
 Recon:
o It is called unit of recombination.
o Smallest part of gene which is involved in crossing over
or recombination.

figure:1.2
Cistron, Recon, Muton.
Classical concept of gene:
 Classical concept introduced by the following scientist;
a. Sutton (1902).
b. Morgan (1913).
c. Bridge (1927).
d. Muller (1927).
 Gene are discrete particle of heredity inherited in Mendelian
fashion.
 Gene occupies a definite locus in the chromosome and
responsible for expression of specific phenotypic character.
Conti:
 Number of gene in each organism is more than number
chromosome.

 Gene are arranged in a single linear order like beads in a string.

 Each gene occupies specific position called locus.

 If the position of gene changes, character changes.

Conti:
 Gene can be transmitted from parent to off springs.

 Gene may exist in several alternate formed called alleles.

 Gene may undergo sudden change in position and composition

called mutation.

 gene are capable of self duplication producing their own exact

copies.
Modern concept of gene:
 S. Benzer (1957) give different terms for different nature of gene.
 on basis of genetic phenomena to which they involve;

o Gene as unit of transmission called cistron.

o Gene as unit of recombination called recon.

o Gene as unit of mutation called muton

Cistron:
 The part of gene specifying a single polypeptide chain is termed as
cistron.

 It transmit character from one generation to other as a unit of

transmission.

 A cistron can have 100 nucleotide pairs in length.

Recon:
 The smallest part of DNA or GENE capable of being separated and
exchange with other chromosomes is called Recon.

 A recon consist of not more than two pairs of nucleotide.

MUTON:
 Muton is the smallest unit of gene.

 Smallest unit of gene which produce measurable effect on

phenotype.

 Muton is delimited to a single nucleotide.

Types of gene
 On the basis of behavior gene are classified into following:
I. Basic gene.
II. Lethal gene.
III. Multiple gene.
IV. Cumulative gene.
V. Pleiotropic gene.
VI. Modifying gene.
VII. Inhibitory gene.
1- Basic gene:
 “A basic gene is a gene that provides the fundamental
information needed for the development and functioning of an
organism”.
 These include genes that code for:
a. proteins that are essential for cell growth and division.
b. DNA repair and other cellular process.

2- Lethal gene:
 “A lethal gene is a gene that causes an organism to die when it is
expressed”.
 Lethal genes can be inherited or acquired through mutations.
3- Multiple gene:
 It refers to “characteristics of an organism are determined by
the interactions and combinations of multiple genes”.
OR
 “When two or more pairs of independent gene act together to
produce a single phenotypic trait”.

 For example, a trait like eye color is determined by multiple genes

working together.
 The color of your eyes is not determined by just one single gene.
 but by the combination of multiple genes that control the production and
distribution of pigments in the iris.
4- cumulative gene:
 For better understanding this terminology I explain it in steps.

1. Cumulative gene refers to the gradual accumulation of genetic

changes over time in a “particular gene or set of genes”.

2. These changes can occur through mutations, which can lead to

changes in the function or expression of the gene.

3. and ultimately result in changes in an organism's characteristics or

behavior . i.e. mutation in giraffe.
5- pleiotropic gene:
 “A pleiotropic gene is a gene that has multiple effects on
different traits or characteristics of an organism”.
 This means that a single gene can affect multiple aspects of an
organism's development or physiology.

6- modifier gene:
 “Modifying genes, also known as modifier genes”.
 genes that can modify or change the effects of other genes.
 This gene cannot produce a character by itself.
7- inhibitory gene:
 “the gene which inhibit or suppresses the expression of another
gene is called inhibitory gene”.

Gene “specific sequence of DNA”.

Gene action:
 Gene action refers to “the way in which a gene influences the
development or function of an organism”.
 It can includes;
a. the regulation of gene expression.
b. the production of proteins or other molecules, and the control of cell growth
and division.
 Dominant and recessive:
 Dominant genes are those that are expressed even when just one
copy is present.
Conti:
 recessive genes are only expressed when two copies are present.

 A dominant gene can mask the effects of a recessive gene.

Dominant and
recessive gene
Protein synthesis:
 Protein synthesis is regulated by 3 specific gene located on
chromosomes.

1. Structural gene.
2. Operator gene.
3. Regulatory gene.
1- structural gene:
 A structural gene is a gene that codes for a specific protein.
 The protein that is produced from a structural gene performs a
specific function in the cell.
 such as structural support, catalyzing metabolic reactions,
replicating DNA etc.
2- operator gene:
 An operator gene is a type of regulatory gene that controls the
expression of structural genes.
 The operator gene is located near the structural gene and binds to a
specific site called the “operator site”. See figure 1.4.
3- regulator gene:
 The gene that controls the expression of other genes.
 These genes produce regulatory molecules, i.e. proteins called
repressures that can turn other genes on or off.

Figure 1.4
Essential feature of gene:
 It determine the physical as well as physiologic characters.

 Situated in the chromosome.

 Occupies specific region called locus.

 Occurs in functional state called alleles.