Mendel law of genetics :

Gregor Mendel, through his work on pea plants, discovered the fundamental laws of inheritance.
He deduced that genes come in pairs and are inherited as distinct units, one from each parent.
Mendel tracked the segregation of parental genes and their appearance in the offspring as
dominant or recessive traits. He recognized the mathematical patterns of inheritance from one
generation to the next. Mendel's Laws of Heredity are usually stated as:

1) The Law of Segregation: Each inherited trait is defined by a gene pair. Parental genes are
randomly separated to the sex cells so that sex cells contain only one gene of the pair. Offspring
therefore inherit one genetic allele from each parent when sex cells unite in fertilization.

2) The Law of Independent Assortment: Genes for different traits are sorted separately from one
another so that the inheritance of one trait is not dependent on the inheritance of another.

3) The Law of Dominance: An organism with alternate forms of a gene will express the form
that is dominant.

The genetic experiments Mendel did with pea plants took him eight years (1856-1863) and he
published his results in 1865. During this time, Mendel grew over 10,000 pea plants, keeping
track of progeny number and type. Mendel's work and his Laws of Inheritance were not
appreciated in his time. It wasn't until 1900, after the rediscovery of his Laws, that his
experimental results were understood.

Why was Pea Plant Selected for Mendel’s Experiments?

He selected a pea plant for his experiments:

1. The pea plant can be easily grown and maintained.

2. They are naturally self-pollinating but can also be cross-pollinated.

3. It is an annual plant, therefore, many generations can be studied within a short period of
time.

4. It has several contrasting characters.

Mendel conducted 2 main experiments to determine the laws of inheritance. These experiments
were:

1. Monohybrid Cross Experiment

2. Dihybrid Cross Experiment

While experimenting, Mendel found that certain factors were always being transferred down to
the offspring in a stable way. Those factors are now called genes i.e. genes can be called the
units of inheritance.

Mendel’s Experiments

Mendel experimented on a pea plant and considered 7 main contrasting traits in the plants. Then,
he conducted both the experiments to determine the aforementioned inheritance laws. A brief
explanation of the two experiments is given below.

Monohybrid Cross

In this experiment, Mendel took two pea plants of opposite traits (one short and one tall) and
crossed them. He found the first generation offsprings were tall and called it F1 progeny. Then
he crossed F1 progeny and obtained both tall and short plants in the ratio 3:1. To know more
about this experiment, visit Monohybrid Cross – Inheritance Of One Gene.

Mendel even conducted this experiment with other contrasting traits like green peas vs yellow
peas, round vs wrinkled, etc. In all the cases, he found that the results were similar. From this, he
formulated the laws of Segregation And Dominance.

Dihybrid Cross

In a dihybrid cross experiment, Mendel considered two traits, each having two alleles. He
crossed wrinkled-green seed and round-yellow seeds and observed that all the first generation
progeny (F1 progeny) were round-yellow. This meant that dominant traits were the round shape
and yellow colour.

He then self-pollinated the F1 progeny and obtained 4 different traits wrinkled-yellow, round-
yellow, wrinkled-green seeds and round-green in the ratio 9:3:3:1.

Conclusions from Mendel’s Experiments

 The genetic makeup of the plant is known as the genotype. On the contrary, the physical
appearance of the plant is known as phenotype

 The genes are transferred from parents to the offsprings in pairs known as allele.

 During gametogenesis when the chromosomes are halved, there is a 50% chance of one
of the two alleles to fuse with the other parent.

 When the alleles are the same, they are known as homozygous alleles and when the
alleles are different they are known as heterozygous alleles.
1. Law of segregation

2. Law of independent assortment

Mendel’s laws

The two experiments lead to the formulation of Mendel’s laws known as laws of inheritance
which are:

1. Law of Dominance

2. Law of Segregation

3. Law of Independent Assortment

Law of Dominance

This is also called Mendel’s first law of inheritance. According to the law of dominance, hybrid
offsprings will only inherit the dominant trait in the phenotype. The alleles that are suppressed
are called as the recessive traits while the alleles that determine the trait are known as the
dormant traits.

Law of Segregation

The law of segregation states that during the production of gametes, two copies of each
hereditary factor segregate so that offspring acquire one factor from each parent. In other words,
allele (alternative form of the gene) pairs segregate during the formation of gamete and re-unite
randomly during fertilization. This is also known as Mendel’s third law of inheritance.

Law of Independent Assortment

Also known as Mendel’s second law of inheritance, the law of independent assortment states that
a pair of trait segregates independently of another pair during gamete formation. As the
individual heredity factors assort independently, different traits get equal opportunity to occur
together.

Key Points on Mendel’s Laws

 The law of inheritance was proposed by Gregor Mendel after conducting experiments on
pea plants for seven years.

 The Mendel’s laws of inheritance include law of dominance, law of segregation and law
of independent assortment.

 The law of segregation states that every individual possesses two alleles and only one
allele is passed on to the offspring.

 The law of independent assortment states that the inheritance of one pair of genes is
independent of inheritance of another pair.
Concept of allele

An allele is a term coined to describe a specific copy of a gene. Genes, the DNA sequences
controlling our traits, are usually found in two copies in eukaryotic genomes; each copy (allele)
is inherited from one parent. Each allele occupies a specific region on the chromosome called a
gene locus. The gene’s two alleles are located in the same region in two homologous
chromosomes, one inherited from each parent. The alleles may be dominant or recessive.
The dominant allele (definition: the allele that is expressed) masks the effect of the recessive
allele (definition: the allele that is not expressed).

Recessiveness and Dominance

recessiveness, in genetics, the failure of one of a pair of genes (alleles) present in an individual
to express itself in an observable manner because of the greater influence, or dominance, of its
opposite-acting partner. Both alleles affect the same inherited characteristic, but the presence of
the recessive gene cannot be determined by observation of the organism; i.e., although present in
the organism’s genotype, the recessive trait is not evident in its phenotype. The term recessive is
applied both to the organism having the alleles of a gene pair in the recessive condition and to
the allele whose effect can be masked by another allele of the same gene.
A number of genetic diseases in humans are autosomal recessive, meaning that two mutant
recessive alleles are required to produce symptoms of disease. An example is sickle cell anemia,
a severe hemoglobin disorder, which results only when a mutant gene (a) is inherited from both
parents. In this case, each parent is a carrier, a heterozygote with one normal gene and one
mutant gene (Aa) who is phenotypically unaffected. The chance of such a couple producing a
child with sickle cell anemia is one out of four for each pregnancy. For couples consisting of one
carrier (Aa) and one affected individual (aa), the chance of having an affected child is one out of
two for each pregnancy.

dominance, in genetics, greater influence by one of a pair of genes (alleles) that affect the same
inherited character. If an individual pea plant with the alleles T and t (T = tallness, t = shortness)
is the same height as a TT individual, the T allele (and the trait of tallness) is said to be
completely dominant. If the T t individual is shorter than the T T but still taller than
the t t individual, T is said to be partially or incompletely dominant; i.e., it has a greater influence
than t but does not completely mask the presence of t, which is said to be recessive.

Epistasis

Genetics entails a phenomena, epistasis wherein the impact of a gene mutation depends on the
absence or presence of mutations in one or more other genes referred to as modifier genes.
Consequently, the epistatic mutations have various effects on their own than when it occurs
together. Epistasis particularly is used to indicate that the effect of gene variant gets masked by
other genes.

Interactions between genes or epistasis have been identified to be significant fundamentally to

comprehend the role as well as the structure of genetic pathways and the evolutionary dynamics
of the complicated genetic systems. There is a revived approval for both the significance of
studying gene interactions and to address questions in a co-ordinated quantitative mode with the
arrival of high turnout functional genomics along with the unfolding of system approaches in the
field of biology. This is joined by the newly discovered cognition to follow the genetic basis of
evolution to the particular molecular alterations.

Consequently, Epistasis is an interaction discussed at the phenotypic level of the organization.

Genes at a particular epistatic interaction can exhibit independent assortment at the genotypic
level, in which case the phenotypic ratios can seemingly deviate from those that are expected
with independent assortment.

Types of Epistasis

Epistasis gene interactions are of 6 types

 Dominant

 Recessive
  Polymeric gene interaction

 Dominant inhibitory

 Duplicate recessive

 Duplicate dominant

It is a simple or dominant epistasis whenever a dominant allele conceals the expressing of

both recessive and dominant alleles at other loci.
It is a recessive epistasis when the recessive allele conceals the expressing.
It is suppression epistasis or dominant inhibitory when genes conceal other genes by suppression.
It is a result of genes acting as suppressors or a component inhibiting the expressing of other
alleles.
Duplicate epistasis is based on two loci. It is duplicate recessive epistasis whenever there is a
recessive allele concealing the expressing of dominant alleles at two loci. This is also referred to
as a complementary gene action as both the genes are necessary for the accurate phenotype to be
available. Epistasis is said to be duplicate gene action or dominant epistasis whenever there is a
dominant allele concealing the expression of recessive alleles at two loci.
The union of both dominant alleles strengthening the phenotype or creating a median variation is
the polymeric gene interaction. When on their own, each of these dominant alleles generates a
physical characteristic differing from the united dominant alleles. Consequently, 3 phenotypes
are created for 2 dominant alleles only.

Epistasis – Example
 Malvidin, a chemical is produced by Primula, a plant. Production of Malvidin is
determined by the K gene where the suppression of its production is regulated by the D
gene. Both of these genes are dominant characteristics. There is no expression of a
dominant D allele even in the presence of dominant K allele. This interplay of the alleles
can be classified then as the dominant inhibitory type of epistasis because the dominant D
allele impedes the K allele.

Gene/linkage mapping ;
When genes are on separate chromosomes, or very far apart on the same chromosomes,
they assort independently. That is, when the genes go into gametes, the allele received for one
gene doesn't affect the allele received for the other. In a double heterozygous organism (AaBb),
this results in the formation of all 444 possible types of gametes with equal, or 25\%25%25,
percent, frequency.

A linkage map is a map based on the frequencies of recombination between markers

during crossover of homologous chromosomes. The greater the frequency of recombination
(segregation) between two genetic markers, the further apart they are assumed to be. Conversely,
the lower the frequency of recombination between the markers, the smaller the physical distance
between them. Historically, the markers originally used were detectable phenotypes (enzyme
production, eye colour) derived from coding DNA sequences; eventually, confirmed or
assumed noncoding DNA sequences such as microsatellites or those generating restriction
fragment length polymorphisms (RFLPs) have been used.
Linkage maps help researchers to locate other markers, such as other genes by testing for genetic
linkage of the already known markers.
Single gene disorder in human

A single gene disorder is caused by variations (or mutations) in the DNA sequence of a specific
gene. The DNA changes affect the product that the gene codes for—usually a protein—causing it
to be altered or missing. The features of each disorder are related to the specific gene that is
affected and the job that the protein has in the body.
Some genetic disorders are so serious that children who have them are extremely sick or cannot
survive after birth. Others are relatively easy to manage, and with proper care, people who have
them have very fulfilling lives. The chances of a good outcome are much higher if the condition
is identified soon after birth, or even before.
There are three types of genetic disorders:
 Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an
example.
 Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or
changed. Chromosomes are the structures that hold our genes. Down syndrome is a
chromosomal disorder.
 Complex disorders, where there are mutations in two or more genes. Often your lifestyle
and environment also play a role. Colon cancer is an example.

Condition Gene (Chr. Location) Inheritance

Pattern

Congenital Deafness Connexin 26 (13q11) Recessive

(nonsyndromic)

Tay-Sachs hexosaminidase A Recessive

(15q23)
Familial LDL receptor (19p13) Dominant
hypercholesterolemia

Sickle cell anemia Beta-globin (11p15) Recessive

Duchenne muscular Dystrophin (Xq21) X-linked Recessive

dystrophy

Cystic Fibrosis CFTR (7q31) Recessive

Hemochromatosis HFE (6p21) Recessive

Huntington disease Huntington (4p16) Dominant

Meiosis and mitosis

Meiosis is a type of cell division that results in the formation of four daughter cells each with
half the number of chromosomes as the parent cell.
Mitosis is the type of cell division that results in the formation of two daughter cells each with
the same number and kind of chromosomes as the parent cell.
In single-celled organisms, cell reproduction gives rise to the next generation. In multicellular
organisms, cell division occurs not just to produce a whole new organism but for growth and
replacement of worn-out cells within the organisms.
Cell division is always highly regulated and follows a highly orchestrated series of steps. The
term cytokinesis refers to the division of a cell in half, while mitosis and meiosis refer to two
different forms of nuclear division.
Mitosis results in two nuclei that are identical to the original nucleus. Meiosis, on the other hand,
results in four nuclei that each has ½ the chromosomes of the original cell. In animals, meiosis
only occurs in the cells that give rise to the sex cells (gametes), i.e., the egg and the sperm.
Difference between Mitosis and Meiosis

Mitosis Meiosis

Interphase

Each chromosome replicates. The result is two Chromosomes not yet visible but DNA has been
genetically identical sister chromatids (However, duplicated or replicated
do note that interphase is technically not a part of
mitosis because it takes place between one mitotic
phase and the next)

Prophase

Prophase –Each of the duplicated chromosomes Prophase I – crossing-over recombination –

appears as two identical or equal sister chromatids, Homologous chromosomes (each consists of two
The mitotic spindle begins to form. Chromosomes sister chromatids) appear together as pairs. Tetrad
condense and thicken is the structure that is formed. Segments of
chromosomes are exchanged between non-sister
chromatids at crossover points known as
chiasmata (crossing-over)

Metaphase

Metaphase -The chromosomes assemble at the Metaphase I Chromosomes adjust on the

equator at the metaphase plate metaphase plate. Chromosomes are still intact and
arranged as pairs of homologues

Anaphase

Anaphase – The spindle fibres begin to contract. Anaphase I Sister chromatids stay intact.
This starts to pull the sister chromatids apart. At However, homologous chromosomes drift to the
the end of anaphase, a complete set of daughter opposite or reverse poles
chromosomes is found each pole

Mode of Reproduction
Asexual Reproduction Sexual Reproduction

Occurrence

All the cells Reproductive cells

Function

General growth and repair, Cell reproduction Genetic diversity through sexual reproduction

Cytokinesis

Occurs in Telophase Occurs in Telophase I and in Telophase II

Discovered by

Walther Flemming Oscar Hertwig

Mitosis Overview
 Mitosis is a continuous process of cell division which occurs in all types of living cells.
 Mitosis involves four basic phases – prophase, metaphase, anaphase and telophase.
 Mitosis is the process where the division of cell occurs by asexual reproduction.
 In mitosis, the nuclear membrane is broken down, spindle fibres (microtubules) attach to
the chromatids at the centromere and pull apart the chromatids.
 When the chromatids reach separate ends of the cells, the spindle fibres disintegrate and a
nuclear membrane rebuilds around the chromosomes making two nuclei.
 Each nucleus is identical to the original nucleus as it was in G1
Meiosis Overview
 Meiosis is the form of nuclear cell division that results in daughter cells that have one
half the chromosome numbers as the original cell.
 In organisms that are diploid, the end result is cells that are haploid. Each daughter cell
gets one complete set of chromosomes, i.e., one of each homologous pair of
chromosomes.
 In humans, this means the chromosome number is reduced from 46 to 23.
  The only cells that undergo meiosis will become sperm or eggs.
 The joining together of a sperm and egg during fertilization returns the number of the
chromosomes to 46.
 Cells that undergo meiosis go through the cell cycle including the S phase so begin the
process with chromosomes that consist of two chromatids just as in mitosis.
 Meiosis consists of meiosis I and meiosis II. In meiosis I homologous chromosomes are
separated into different nuclei.
 This is the reduction division; chromosome number is cut in half. Meiosis II is very
similar to mitosis; chromatids are separated into separate nuclei.
 As in mitosis, it is spindle fibres that “pull” the chromosomes and chromatids apart.
 The end result of meiosis is four cells, each with one complete set of chromosomes
instead of two sets of chromosomes.
Similarities Between Mitosis and Meiosis
 Both mitosis and meiosis takes place in the cell nuclei which can be observed under a
microscope
 Mitosis and meiosis, both involve cell division
 Both the processes occur in the M-phase of the cell cycle. In both cycles, the typical
stages are metaphase, anaphase, telophase and prophase
 In both the cycles, synthesis of DNA takes place
DNA as genetic material
DNA, deoxyribonucleic acid, is the genetic material in your cells. It was passed on to you from
your parents and determines your characteristics. The discovery that DNA is the genetic material
was another important milestone in molecular biology.
Griffith Searches for the Genetic Material
Many scientists contributed to the identification of DNA as the genetic material. In the 1920s,
Frederick Griffith made an important discovery. He was studying two different strains of a
bacterium, called R (rough) strain and S (smooth) strain. He injected the two strains into mice.
The S strain killed (virulent) the mice, but the R strain did not (non-virulent) (see Figure below).
Griffith also injected mice with S-strain bacteria that had been killed by heat. As expected, the
killed bacteria did not harm the mice. However, when the dead S-strain bacteria were mixed with
live R-strain bacteria and injected, the mice died.
Griffith’s Experimental Results. Griffith showed that a substance could be transferred to
harmless bacteria and make them deadly.
Based on his observations, Griffith deduced that something in the killed S strain was transferred
to the previously harmless R strain, making the R strain deadly. He called this
process transformation, as something was "transforming" the bacteria from one strain into
another strain.
Hierarchy of DNA structure single stranded to double stranded to nucleosomes to
chromosomes
the building blocks of DNA are nucleotides, which are made up of three parts: a deoxyribose (5-
carbon sugar), a phosphate group, and a nitrogenous base. There are four types of nitrogenous
bases in DNA. Adenine (A) and guanine (G) are double-ringed purines, and cytosine (C) and
thymine (T) are smaller, single-ringed pyrimidines. The nucleotide is named according to the
nitrogenous base it contains.

Watson and Crick proposed that the DNA is made up of two strands that are twisted around each
other to form a right-handed helix, called a double helix. Base-pairing takes place between a
purine and pyrimidine: namely, A pairs with T, and G pairs with C. In other words, adenine
and thymine are complementary base pairs, and cytosine and guanine are also complementary
base pairs. This is the basis for Chargaff’s rule; because of their complementarity, there is as
much adenine as thymine in a DNA molecule and as much guanine as cytosine. Adenine and
thymine are connected by two hydrogen bonds, and cytosine and guanine are connected by three
hydrogen bonds. The two strands are anti-parallel in nature; that is, one strand will have the 3′
carbon of the sugar in the “upward” position, whereas the other strand will have the 5′ carbon in
the upward position. The diameter of the DNA double helix is uniform throughout because a
purine (two rings) always pairs with a pyrimidine (one ring) and their combined lengths are
always equal

The Nucleosome: The Unit of Chromatin

A nucleosome is the basic structural unit of DNA packaging in eukaryotes. The structure of a
nucleosome consists of a segment of DNA wound around eight histone proteins[1] and resembles
thread wrapped around a spool. The nucleosome is the fundamental subunit of chromatin. Each
nucleosome is composed of a little less than two turns of DNA wrapped around a set of eight
proteins called histones, which are known as a histone octamer. Each histone octamer is
composed of two copies each of the histone proteins H2A, H2B, H3, and H4.The core is called a
nucleosome, and can be viewed under an electron microscope if the chromosome is dispersed.
The nucleosome consists of 8 positively charge proteins called histones. The dsDNA winds
around the nucleosome core about 2.5 times. The dsDNA then links around other nucleosome in
which each nucleosome is connected by a small section of interconnecting spacer DNA, to which
is bound another histone, H1. Under an electron microscope, the DNA looks like a bead on a
string. The beads are nucleosomes, and the string is the dsDNA.

Concept of genetic code

The genetic code is a set of rules defining how the four-letter code of DNA is translated into the
20-letter code of amino acids, which are the building blocks of proteins. The genetic code is a set
of three-letter combinations of nucleotides called codons, each of which corresponds to a specific
amino acid or stop signal. The concept of codons was first described by Francis Crick and his
colleagues in 1961. During the same year, Marshall Nirenberg and Heinrich Matthaei performed
experiments that began deciphering the genetic code. They showed that the RNA sequence UUU
specifically coded for the amino acid phenylalanine. Following this discovery, Nirenberg, Philip
Leder, and Gobind Khorana identified the rest of the genetic code and fully described each three-
letter codon and its corresponding amino acid.

What is a Genetic Code?

The genetic code can be defined as the set of certain rules using which the living cells translate
the information encoded within genetic material (DNA or mRNA sequences). The ribosomes are
responsible to accomplish the process of translation. They link the amino acids in an mRNA-
specified (messenger RNA) order using tRNA (transfer RNA ) molecules to carry amino acids
and to read the mRNA three nucleotides at a time.
Properties of Genetic Code
 Triplet code
 Non-ambiguous and Universal
 Degenerate code
 Nonoverlapping code
 Commaless
 Start and Stop Codons
 Polarity

Triplet code
A codon or a code word is defined as a group of bases that specify an amino acid. There is strong
evidence, which proves that a sequence of three nucleotides codes for an amino acid in the protein,
i.e., the code is a triplet.
The four bases of nucleotide i.e, (A, G, C, and U) are used to produce three-base codons. The 64
codons involve sense codons (that specify amino acids). Hence, there are 64 codons for 20 amino
acids since every codon for one amino acid means that there exist more than code for the same
amino acid.

Commaless code
No room for punctuation in between which indicates that every codon is adjacent to the previous one
without any nucleotides between them.

Nonoverlapping code
The code is read sequentially in a group of three and a nucleotide which becomes a part of triplet
never becomes part of the next triplet.
For example
5’-UCU-3’ codes for Serine
5’-AUG-3’ codes for methionine

Polarity
Each triplet is read from 5’ → 3’ direction and the beginning base is 5’ followed by the base in the
middle then the last base which is 3’. This implies that the codons have a fixed polarity and if the
codon is read in the reverse direction, the base sequence of the codon would reverse and would
specify two different proteins.

Degenerate code
Every amino acid except tryptophan (UGG) and methionine (AUG) is coded by various codons, i.e, a
few codons are synonyms and this aspect is known as the degeneracy of genetic code. For
instance, UGA codes for tryptophan in yeast mitochondria.

Start and Stop Codons

Generally, AUG codon is the initiating or start codon. The polypeptide chain starts either with
eukaryotes (methionine) or prokaryotes (N- formylmethionine).
On the other hand, UAG, UAA and UGA are called as termination codons or stop codons. These
are not read by any tRNA molecules and they never code for any amino acids.

Non-ambiguous and Universal

The genetic code is non-ambiguous which means a specific codon will only code for a particular
amino acid. Also, the same genetic code is seen valid for all the organisms i.e. they are universal.