BIOLOVE

GENETICS

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Genes

Basic unit of inheritance or information about specific traits

Located on chromosomes
For example, the height of pea plant is determined by a gene

Locus

Location in chromosomes where genes are located

Allele

If the a gene give the height

characteristics,
Allele determine either it is tall or short
So, Allele is the variant of the same gene

Another example

Gene: Hair colour

Allele: Black or blonde
Gene: Fur colour
Allele: White or yellow

Dominant Allele

Presented by capital letter. Example: (T, P, B, A)

Will show the effects on organism

Recessive allele

Presented by small letter.

No effects on organism if paired with dominant allele

For example:

If P is for blue colour, and p is for red colour

Pp = blue colour
pp = red colour
pp Pp

Homozygous

The same letter. Example: tt, YY, NN

Can be either homozygous dominant or recessive

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Homozygous dominant

PP, YY, TT, MM

Combination of two same capital letter

Homozygous recessive

pp, tt, mm, nn

combination of two same small letter

Heterozygous

one small letter and one capital letter

Example: Tt, Mn, Hh, Rr

Genotype

Genetic composition of an organism which is not visible externally

The genotype of plant is represented by the allele present
Hence, if P is allele for tall plant, all tall plants will have the genotype of Pp or PP

Phenotype

External appearance or observable features

Example: Colour, size, structure

History of genetis

We have to know Mendel, the father of modern genetics

What he do?

He study the inheritance of traits in pea plants

Who is he?

An Austrian priest

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Why he chose pea plant to study about inheritance of traits?

Advantages of pea plants for genetic study:

There are many varieties with distinct heritable features, or characters (such as
flower color); character variants (such as purple or white flowers) are called traits

Mating of plants can be controlled

Each pea plant has sperm-producing organs (stamens) and egg-producing organs
(carpels)

Cross-pollination (fertilization between different plants) can be achieved by dusting

one plant with pollen from another

Mendel chose to track only those characters that varied in an either-or manner

He also used varieties that were true-breeding (plants that produce offspring of the same
variety when they self-pollinate)

Inheritance of single trait is called as monohybrid

In a typical experiment, Mendel mated

two contrasting, true-breeding varieties, a
process called hybridization

The true-breeding parents are the P1 or

parental generation

The hybrid offspring of the P generation

are called the F1 generation or first filial
generation

When F1 individuals self-pollinate, the

F2 generation or second filial generation is
produced

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 When Mendel crossed contrasting, true-breeding white and purple flowered pea plants, all
of the F1 hybrids were purple

When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some
had white

Mendel discovered a ratio of about three to one, purple to white flowers, in the F2
generation

Fertilized among F1

F1 x F1

If the dominant or
recessive trait is not
mentioned in the
question, please
refer to this table.

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Law of segregation

Two alleles of a gene seperate or segregate from each other into different gametes during the
formation of gametes.

Thus, an egg or a sperm gets only one of the two alleles that are present in the somatic cells
of an organism

This segregation of alleles corresponds to the distribution of homologous chromosomes to

different gametes in meiosis

Allele in a pair Separate/segregate

Into different gamete

The possible combinations of sperm and egg can be shown using a Punnett square, a
diagram for predicting the results of a genetic cross between individuals of known genetic
makeup

Gametes must
be circled

This is Monohybrid cross

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 Crossing two true-breeding parents differing in two characters produces dihybrids in the F1
generation, heterozygous for both characters (YyRr)
A dihybrid cross, a cross between F1 dihybrids, can determine whether two characters are
transmitted to offspring as a package or independently

This is not valid

for dihybrid
cross

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 Using a dihybrid cross, Mendel developed the law of independent assortment

The law of independent assortment states that each pair of alleles segregates
independently of each other pair of alleles during gamete formation

Strictly speaking, this law applies only to genes on different, nonhomologous

chromosomes

Genes located near each other on the same chromosome tend to be inherited
together

Mendels laws of segregation and independent assortment reflect the rules of

probability

When tossing a coin, the outcome of one toss has no impact on the outcome of the
next toss

In the same way, the alleles of one gene segregate into gametes independently of
another genes alleles

The multiplication rule states that the probability that two or more independent
events will occur together is the product of their individual probabilities

Probability in an F1 monohybrid cross can be determined using the multiplication rule

Segregation in a heterozygous plant is like flipping a coin: Each gamete has a chance
of carrying the dominant allele and a chance of carrying the recessive allele

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Extension to Mendels Genetics

Complete dominance occurs when phenotypes of the heterozygote and dominant

homozygote are identical

Heterozygote = Pp Both has identical

phenotype which is
Homozygote dominant = PP purple colour

In incomplete dominance, the phenotype of F1 hybrids is somewhere between the

phenotypes of the two parental varieties

For example:

TT x YY
GG x HH

OR

GH TY

The third organism display both

appearance from parents

It is not necessary to write the capital

letter C when writing the genetic
diagram

In codominance, two dominant

alleles affect the phenotype in separate,
distinguishable ways

- Example provided in the

summary table of degree of dominance
at page 11

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Multiple Alleles

Most genes exist in populations in more

than two allelic forms
For example, the four phenotypes of
the ABO blood group in humans are
determined by three alleles for the
enzyme (I) that attaches A or B
carbohydrates to red blood cells: IA, IB,
and i.
The enzyme encoded by the IA allele
adds the A carbohydrate, whereas the
enzyme encoded by the IB allele adds
the B carbohydrate; the enzyme
encoded by the i allele adds neither

Epistasis
In Epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus
For example, in mice and many other mammals, coat color depends on two genes
One gene determines the pigment color (with alleles B for black and b for brown)
The other gene (with alleles C for color and c for no color) determines whether the pigment
will be deposited in the hair

If at least one allele C is exist,

the fur will have either black
or brown colour

If no allele C exist but only

allele c is exist, for example
BBcc, the fur will have no
colour. Fur will be white.

Briefly, if no dominant allele

for colour, the fur will have
no colour

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Polygenic Inheritance

Quantitative characters are

those that vary in the population
along a continuum

Quantitative variation usually

indicates polygenic inheritance,
an additive effect of two or more
genes on a single phenotype

Skin color in humans is an

example of polygenic inheritance

More than two genes will affect

the skin colour

Testcross

Crossing an unkown genotype with a homozygous recessive

Homozygous recessive
________ x rr

unknown

Summary of Extension to Mendelian Genetics

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Useful Diagram To help you

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Steps to write genetic diagram

Step 1: Cross the parents

BbCc x BbCc

Step 2: Obtain the gamete

From BbCc, we make the gamete by using the arrows

BbCc
BC Bc

bC bc
OR we can use numbering system

2
1 4

BbCc 3

Number the letter as shown above

Then, combine the letter

Note that number 1 and 2
1 + 3 = BCBC cannot cross together.
Same goes to number 3
1 + 4 = Bc and 4
Gamete
2 + 3 = bC

2 + 4 = bc

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If the genotype exist as BBCC,

Then the gamete will be BC and BC. But we will take one only out of two which well write BC only
instead of BC and BC because it is the same.

Step 3: Draw a punnet square to obtain the F1

BC Bc bC bc

BBCC BBCc BbCC BbCc

BC
BBCc BBcc BbCc Bbcc
Bc

BbCc BbCc bbCC bbCc

bC

BbCc Bbcc bbCc bbcc

bc

Step 4: Write the Genotypic ratio and phenotypic ratio

Genotypic ratio: ________________________________________

Phenotypic ratio: _______________________________________

DNA
Is a polymer of nucleotides, each consisting of three components: a nitrogenous base, a
sugar, and a phosphate group

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 The nitrogenous bases

Are paired in specific combinations: adenine with thymine, and cytosine with
guanine

Each base pair forms a different number of hydrogen bonds

Adenine and thymine form two bonds, cytosine and guanine form three bonds

DNA

Was composed of two antiparallel sugar-phosphate backbones, with the nitrogenous

bases paired in the molecules interior

Twisted into helical shape

Differences between DNA and RNA

Aspect DNA RNA

Sugar Deoxyribose Ribose
Bases A-T, C-G U-A, C-G

The base thymine, T is

replaced by Uracil, U
Strand Double Single

DNA Replication

Copying the double strand DNA

Genetic material is passed down to daughter cells
Happens before cell division

In prokaryotes happen through the interval between cell divisions

Eukaryotes happens during the S phase

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 In DNA replication

The parent molecule unwinds, and two new daughter strands are built based on
base-pairing rules

Model of DNA replication

The Semiconservative model was then accepted when Meselson and Stahl carried out an experiment
to prove it.

Experiments performed by Meselson and Stahl

Supported the semiconservative model of DNA replication

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 The copying of DNA

Is remarkable in its speed and accuracy

More than a dozen enzymes and other proteins

Participate in DNA replication

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 The replication of a DNA molecule

Begins at special sites called origins of replication, where the two strands are
separated

A eukaryotic chromosome

May have hundreds or even thousands of replication origins

Replication occurs in the direction from 5 to 3

Continuous repliation on 3 to 5 template

Discontinuous on 5 to 3 template. Replication form short segments

DNA replication starts when the DNA is unwind by DNA Helicase at area known as replication
fork
More replication bubbles faster the process of copying the DNA strand
Once Helicase has unwind the strand, single strand binding protein will bind to the single
strand DNA and stabilize it.

Here are the summary of action by the molecules

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Primase will synthesize RNA primer

RNAase H removes the RNA primer

DNA polymerase I replace the RNA primer with DNA nucleotides

RNA primer is the start point for DNA polymerase

Elongation of new DNA at a replication fork

Is catalyzed by enzymes called DNA polymerases, which add nucleotides to the 3

end of a growing strand

DNA polymerase I

DNA polymerase I add nucleotides

Only to the free 3 end of a growing strand

Along one template strand of DNA, the leading strand

DNA polymerase III can synthesize a complementary strand continuously, moving

toward the replication fork

To elongate the other new strand of DNA, the lagging strand

DNA polymerase III must work in the direction away from the replication fork

The lagging strand

Is synthesized as a series of segments called Okazaki fragments, which are then

joined together by DNA ligase

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 Synthesis of leading and lagging strands during DNA replication

DNA polymerases cannot initiate the synthesis of a polynucleotide

They can only add nucleotides to the 3 end

RNAase H remove
the RNA primer

Figure 16.15 showing Replication in Lagging strands

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 6. RNAase H removes the primer
from 5 end of second fragment. DNA
polymerase I replace the primer with
DNA nucleotides that it adds one by
one to the 3 end of the 3rd fragment.
The replacement of the last RNA
nucleotide with DNA leaves the sugar
phosphate backbone with a free 3
end

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Protein Synthesis

The two stgaes of protein synthesis is Transcription and Translation

Transcription

Is the synthesis of RNA under the direction of DNA

Produces messenger RNA (mRNA)

Translation

Is the actual synthesis of a polypeptide, which occurs under the direction of mRNA

Occurs on ribosomes

In prokaryotes

Transcription and translation occur together

In eukaryotes

RNA transcripts are modified before becoming true mRNA

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 Genetic information

Is encoded as a sequence of nonoverlapping base triplets, or codons

How many bases correspond to an amino acid?

3 base will form codon which will specify amino acid

Each codon consist of three nucleotides (base)

During transcription

The gene determines the sequence of bases along the length of an mRNA molecule

4 characteristics of Genetic code

1. Triplet:
3 nucleotides(codon) will specify one amino acid
Each amino acid may have more than one codon. But one codon only specify for an
amino acid
Overall 61 codons + 3 stop codons
AUG is the start codon (AUG codes for methionine) for transcription

Stop codons

UAA, UAG, UGA

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 2. Redundant:
More than one codon for an amino acids
3. Unambigous
One codon can only specify an amino acid only
Which means if AAA is for Lysine, it is strictly for Lysine and cannot form other amino acid
4. No spaces or punctuation

Transcription

- Happens when the DNA strands separate

- One strand of DNA is used as the pattern to produce RNA using specific base pairing
- Catalyze by RNA polymerase
- Takes place in nucleus

Flow of transcription

Start: promotercoding regionterminator:End

RNA synthesis

Is catalyzed by RNA polymerase, which pries the DNA strands apart and hooks
together the RNA nucleotides

Follows the same base-pairing rules as DNA, except that in RNA, uracil(U) substitutes
for thymine(T)

The stages of transcription are

Initiation

Elongation

Termination

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Initiation

- RNA polymerase bind to promoter

- DNA double helix unwind
- RNA polymerase transcribe the coding region
- No primer is needed for transcription because starts at the promoter

What is promoter?

- TATA box
TATA box is recognize by transcription factors
Transcription factors(TF) are proteins involve in the regulation of gene expression
TF has two domains(base)
At TATA box
For RNA polymerase to bind

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 - TF binds to DNA strand
- RNA polymerase II bind to DNA at TF
- TF + RNA polymerase + TATA box = transcription initiation complex

Elongation

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 - RNA polymerase elongate transcription from 5 to 3
- Transcribed DNA will reform the double helix
- New RNA dissociate from template

Termination

- RNA polymerase transcribes a terminator

- Terminator is one of the three stop codons (UAA, UAG, UGA)
- RNA strands released
- RNA polymerase dissociates from the template strand

The mechanisms of termination

Are different in prokaryotes and eukaryotes

Eukaryotic cells modify RNA after transcription

Enzymes in the eukaryotic nucleus

Modify pre-mRNA in specific ways before the genetic messages are dispatched to the
cytoplasm

Each end of a pre-mRNA molecule is modified in a particular way

The 5 end receives a modified nucleotide cap (capped with Guanine, G)

The 3 end gets a poly-A tail (Adenine, A)

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Why mRNA ends need to be altered?

- Protects the RNA from degradation

- Helps the ribosome to attach to the mRNA
- Facilitates the transport out of the RNA from the nucleus

RNA splicing

Pre-mRNA contains Introns (non coding region) and Exons (coding region)

Removes introns and joins exons

RNA splicing Is carried out by spliceosomes in some cases

Ribozymes

Are catalytic RNA molecules that function as enzymes and can splice RNA

The presence of introns

Allows for alternative RNA splicing

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Translation

A cell translates an mRNA message into protein

With the help of transfer RNA (tRNA) and ribosomes

Consist of three stages

- Initiation, elongation and termination

Translation: the basic concept

Molecules of tRNA are not all identical

Each carries a specific amino acid
on one end
Each has an anticodon on the
other end
Which means it has two attachment sites
- Amino acids
- Anticodon

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 Ribosomes

Facilitate the specific coupling

of tRNA anticodons with mRNA
codons during protein
synthesis

The ribosomal subunits

Are constructed of proteins

and RNA molecules named
ribosomal RNA or rRNA

The ribosome has three binding sites for tRNA at the large subunit

The P site

The A site

The E site

Small subunit is for mRNA binding site

E site hold discharged amino acid

P site holds the tRNA growing polypeptide chain

A site holds the tRNA carrying the next amino acid

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Initiation of Translation

Elongation

In the elongation stage of translation

Amino acids are added one by one to the preceding amino acid

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Termination

The final stage of translation is termination

When the ribosome reaches a stop codon in the mRNA

A number of ribosomes can translate a single mRNA molecule simultaneously

- Forming a polyribosome

Summary of transcription and translation

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