C-Value Paradox

GENETICS
Submitted by- RIYA SAJWAN

Roll No.- UE231052
TOPICS INCLUDED
C- Value Paradox
Cot- Curve Method
Genome Imprinting
Penetrance
Expressivity
Sex Limited and Sex Influenced
traits
Pleiopopy
C-VALUE PARADOX
The amount of DNA present in the genome of a species is
called C value.
C-Value of Humans – 3300 Mbp
Mbp stands for Millions of base pairs.
Ex- Drosophilia – 165 Mbp
The amount of DNA content of the organism is linearly
related to the morphological complexity of eukaryotes.
the more complex the organism is, the more genetic
information it needs (larger C value)
In smaller organisms (viruses, bacteria) there is no
room for excess DNA (smaller C value)
The C-Value Paradox refers to the observation that
genome size does not uniformly increase with respect to
perceived complexity of organisms,
Ex- Some Amphibians have more than 10-fold more DNA
than do Mammals, including humans.
FACTORS AFFECTING C-VALUE PARADOX
Introns in genes
Regulatory elements in genes
Pseudogenes
Multiple copies of genes
Intergenic sequences
Repititive DNA
COT CURVE
Cot Curve is the method to analyze the renaturation of DNA. It was discovered by Roy
Britten, Eric Davidson & associates in 1960s.
When double stranded DNA is put in a solution and heat is applied, then DNA gets
converted into single stranded due to the breaking of hydrogen bonds, this process is called
Denaturation.
When we cool the single stranded denatured DNA, it again gets converted back to double
stranded DNA , this process is called Renaturation.
Renaturation depends on the following

factors:
1. Concentration of DNA (Quantity of DNA)
2. Time (Time taken to denature or renature)
3. Buffer Factor (Concentration of cation)
4. Viscosity (Check for contamination to
ensure purity)
CALCULATION OF COT VALUE/COT LOG
Cot log = Concentration of DNA(moles/L) x Time(in secs) x Buffer Factor
APPLICATION OF
COT CURVE METHOD
Information regarding highly
repetitive sequences in DNA.
Determination of the Melting
temperature and properties.
Understanding of the property of
DNA.
Understanding the genome
complexity.
GENOME IMPRINTING
Genome Imprinting is that expression of gene which is dependent upon whether it is inherited
from father or mother.
Ex- In humans, pair of chromosomes are present. Say, One chromosome is
inherited from father and other from mother. These will contain genes
whose function are similar but their expression will depend on whether it is
inherited from father or mother.
Case 1- If we take the 15th chromosome in humans where one is from
father and other from mother. If we take a case where a gene is turned off
in the mother(chromosome). It is done by DNA methylation. Now it
depends on the father gene to express but this gene(15 q11) gets deleted
due to some reason, then it will result into a disease called Parder Willi
Syndrome where the child has short hands and feet, mental retardation,
obesity.
Case 2- The chromosome that came from the father is silent. Now, we
were dependent on the mother gene but that region gets deleted. The
offspring will get a disease called Angelman Syndrome and it will show
conditions like uncontrolled muscle movement, unusually large mouth.
PENETRANCE
Penetrance is the percentage of animals of a specific genotype who express the phenotype
associated with that underlying genotype.
Ex- Polydactyly- ‘Poly’ means Extra, ‘Dactyly’ means fingers/toes. Say 100 people have this
genotype but only 75 show phenotype, 25 have no phenotype. There is 75% penetrance. This
is called Incomplete Penetrance.
Where there is 100% penetrance, it is called Complete Penetrance.
Therefore, "Complete" penetrance means the gene or genes for a trait are expressed in all the
population who have the genes.
"Incomplete" or 'reduced' penetrance means the genetic trait is expressed in only part of the
population.
EXPRESSIVITY
Expressivity refers to the degree that a particular genotype is expressed as a
phenotype within an individual.
PLEIOTROPY
Pleiotropy is when one gene is responsible for more than one character.
Ex- Phenylketonuria
When mutation occurs in the PAH gene, it results
in phenylketonuria. The PAH gene is responsible
for the coding of the enzyme Phenylalanine
hydroxylase, this enzyme is responsible for the
conversion of an amino acid Phenylalanine into
Tyrosine. If the PAH gene is not present it won’t
produce Phenylalanine hydroxylase, therefore
tyrosine won’t be produced. Thus, Phenylalanine
will build up in the blood stream. This cause Hair
fall, less amount of melanine, fair skin and hair,
mental retardation, abnormal posture and
improper growth.
SEX LIMITED TRAITS
The word ‘Sex’ relates to the gender of the organism and ‘Limit’ states that the trait is limited to one
specific gender. Therefore, Sex Limited Traits states that phenotypic expression in an individual is
influenced by the sex of the organism. The major reason behind sex limited traits is the difference
in type and amount of hormone secretion present in both the sex.
Ex- 1. Cattle milking- Only female produces milk while the allele is present in both.
2. Sheep horns - Males show horns while the allele is present in both.
3. Facial hair- Facial hair are majorly present in males while allele is present in both.
4. Precautious puberty occurs in males, in this condition the puberty will occur
before the age of 4 years, they will show pubic hair and penis enlargement. These
conditions generally show in the age of 12-13 years. This occurs due to the
presence of a dominant allele- P which is present on an autosomal chromosome.
If the males has PP, Pp then they will show precautious puberty. The testes have
an LH receptor which receives the LH (hormone) and sends a message to the cell
to release testosterone which is responsible for puberty. The P allele forms the
LH receptor, when p allele is present the LH receptor is normal while when P
allele is present the LH receptor is mutated and it sends the message to cell even
in the absence of LH. Precautious Puberty does not occur in females, as there are
a lot of hormones responsible for the puberty.
SEX INFLUENCED TRAITS
Sex Influenced traits state that the phenotypic expression will occur at
different frequency in male and female.
Ex- Baldness - B allele is responsible for baldness. In males, it is dominant i.e. if

BB, B is present, baldness will show. While in females, it is recessive i.e. baldness
will show only if BB is present.
PSEUDOGENE
Pseudogene is A DNA sequence that resemble a functional gene but has been mutated
into an inactive form, over the course of evolution.
Pseudogenes are functionless/non performing gene.
It is a type of evelutionary relic which indicates about the changing nature of genome
What makes pseudogene non- functional?
Defects are in the form of coding and regulatory sequences.
Pseudogene will lack one of the above sequences.
TYPES OF PSEUDOGENE
PROCESSED PSEUDOGENE UNPROCESSED PSEUDOGENE
Processed Pseudogene arise from the reverse Unprocessed Pseudogene originate from gene
transcription and integration of a processed mRNA. duplications that accumulate mutations, preventing
their translation.
It can be divided into:
UNITARY - The parent gene is becoming non-
functional.
This double stranded gets reintegrated into the

DUPLICATED - The parent gene is duplicated and
genome at a new location(same or diff.
becomes non-functional.
chromosome). This whole process of forming the
pseudogene is called Retro-Transposition
MECHANISM OF PSEUDOGENES
Pseudogenes interact with their functional genes and they regulate different biochemical
processes in the cell. This is done via regulation of gene expression by the pseudogenes. There
are several mechanisms of gene expression such as:
Translational Interference RNA Interference (gene
(gene silencing) - silencing) -
IMPORTANT ROLES OF PSEUDOGENE

Some pseudogenes appear to harbor the potential to regulate their protein-coding cousins.
Many pseudogenes are transcribed into RNA, some of which are also activated in a tissue-
specific pattern.
Pseudogene transcripts can be processed into short interfering RNAs that regulate coding
genes through the RNAi pathway.
seudogenes are capable of regulating tumor suppressors and EMAgenes by acting as
microRNA decoys
PHENOCOPY
Phenocopy is the alteration of the phenotype of an organism due to environmental
conditions and it resemble with the organism having it due to its genotype.
Eg- 1. Himalayan Rabbit
If we grow it under moderate climate, then the phenotypic colour of its body coat is white but that of
ears and tail is black.
If we grow it under cold climate, then the colour of body coat will be black.
This change in colour is not because of its genotype but because of the change in Environmental
conditions. It is non-inheritable.
2. Rickets
There is mutations in the genotype of the organism due to which it is unable to store bone minerals
and causes rickets.
When due to environmental conditions, there is lack of vitamin D in the body, Rickets occurs.
This is an example of phenocopy as the disease is being occured by Genotype in one case and in other by
environmental condition.
3. Deformity of Limbs
In some, deformity occurs due to genetic mutation.
But in some, if the mother, in early stage of pregnancy, consumes thalidomide, it causes deformity of
limbs.
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GENETICS

Submitted by- RIYA SAJWAN

Renaturation depends on the following

Cot log = Concentration of DNA(moles/L) x Time(in secs) x Buffer Factor

Ex- Baldness - B allele is responsible for baldness. In males, it is dominant i.e. if

This double stranded gets reintegrated into the

IMPORTANT ROLES OF PSEUDOGENE

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