Unit 4- DNA & RNA Structure, DNA Replication, Transcription and Translation, Mutation and Inheritance

Nucleic Acids

§ Nucleic acids are complex macromolecules that store and transmit genetic information.

2 types of nucleic acid:

§ DNA – deoxyribonucleic acid

§ RNA – ribonucleic acid

Nucleic acids are composed of recurring monomers units called nucleotides.

§ Nucleotides – the monomer that builds nucleic acids.

Nucleotide
Each nucleotide is comprised of three principal components:

§ pentose sugar (pentagon)

§ Phosphate group (circle)
§ Nitrogenous base (rectangle)

Both DNA and RNA are polymers of nucleotides, however key differences exist in the composition of DNA and RNA
nucleotides.

Comparison of DNA and RNA Nucleotides

Comparing DNA & RNA

DNA Structure:

When drawing the DNA:

• The presence of hydrogen bonding is shown.
• The opposite strand should be antiparallel to the first.
• The two strands of DNA are described as being antiparallel.
• (running in opposite direction) 5 to 3’ and 3 to 5’.

o Label which strand is the 5 to 3’ and which is 3 to 5’.

Strands of DNA are held together by hydrogen bonds between complementary nitrogenous bases:

§ Adenine (A) pairs with Thymine (T) = 2 hydrogen bonds

§ Guanine (G) pairs with Cytosine (C) = 3 hydrogen bonds

DNA Replication

§ A process to make identical copies of DNA using existing DNA

strands.
§ It happens during S Phase of interphase
§ The process of DNA replication uses two enzymes – helicase and
DNA polymerase

Helicase

• Helicase unwinds the double helix and separates the two strands of
DNA
• It does this by breaking the hydrogen bonds that exist between
complementary base pairs
• The two separated strands will act as templates for the synthesis of
new complementary strands.
DNA Polymerase

• DNA polymerase adds new strands to the original strands by complementary base paring. (A-T & C-G).
• This results in two DNA molecules identical to the original.
• Each new strand consists of one newly-synthesized strand and one strand inherited directly from the parent. This
process is known as being semi-conservative.

Green = old / parent strand

Red = new strand / daughter strand
Semiconservative = DNA is not completely new, it’s always half old and half new.

Summary of DNA Replication Process:

• The hydrogen bonds between the two strands are broken by an enzyme helicase, which exposes the nitrogenous bases.
• After the strands are separated, DNA polymerase links together nucleotides complementary (A-T & C-G) to the original/
template strands.
• This results in two DNA molecules identical to the original.
Protein Synthesis

Main Event:

1. Transcription – using DNA to make mRNA

2. Translation – using mRNA to make polypeptide

1. Transcription is the process of creating mRNA copies using DNA sequences. This is done by an enzyme called RNA
polymerase. After transcription is complete, the resulting RNA is called messenger RNA (mRNA).

After transcription, mRNA leaves the nucleus. It travels to ribosomes, which are the cell structures responsible for synthesizing
polypeptide chains.

Ribosomes are the site of translation.

2. Translation - ribosomes interpret the mRNA sequence and

synthesize polypeptide chains. The resulting proteins are typically
released into the cytoplasm or rough ER.

Codon - every three bases of mRNA. Each codon corresponds to an amino

acid.

• During translation, the ribosome ‘reads’ each mRNA codon and

matches it with a tRNA molecule.
§ tRNA- transfer RNA – carries an amino acid and to transfer it to form the specific sequence of the polypeptides. It contains
anticodons which bind with the codon on mRNA. Each tRNA molecule carries a specific amino acid

Summary of Translation process.

§ mRNA binds to ribosomes in the cytoplasm

§ Ribosome moves down the mRNA in 5-3’ direction.
§ Anticodons on tRNA binds to codons of mrna by complementary base pairing (AUG = UAC)
§ Dehydration synthesis happens between 2 amino acids carried by the tRNA within the ribosome.
§ Covalent/peptide bonds will form between adjacent amino acids carried by tRNA
§ The ribosome moves along the mRNA molecule synthesizing a polypeptide chain until it reaches a stop codon.

Annotate the following diagram:

Mutation - a permanent change that occurs in a cell’s DNA.

What are the possible effects of mutation?

§ Can affect only one amino acid in the sequence

§ Can affect more than one amino acid
§ No effect on amino acid sequence
§
Point mutation – change caused by the substitution of a single nucleotide for another nucleotide in DNA

Types of point mutation

o Missense mutations – occurs when DNA change alters a single amino acid in the polypeptide.

o Nonsense mutation – occur when the DNA change creates a STOP codon that causes the translation to terminate
early.

o Silent mutation - occurs when the DNA change does not alter the amino acid sequence of the polypeptide

Frameshift mutation - occur when there is an addition or removal of a base. This change will affect every codon beyond the
point of mutation and thus may dramatically change amino acid sequence

o Insertion – addition of base to the DNA sequence. It changes the codon from the point of insertion.

o Deletion – removal of base to the DNA sequence. It changes the codon from the point of deletion.
Vocabulary Match

Match the terms to the correct definitions by writing the correct letter next to each number.

1. ___ Mutation 5. ___ Silent Mutation

2. ___ Point Mutation 6. ___ Frameshift Mutation
3. ___ Missense Mutation 7. ___ Insertion
4. ___ Nonsense Mutation 8. ___ Deletion

Definitions:

a. A mutation where one nucleotide is replaced with another.

b. A mutation that changes the DNA but does not affect the amino acid.
c. A permanent change in a cell's DNA.
d. A mutation that creates a stop codon, ending protein synthesis early.
e. A mutation caused by the addition of a base to the DNA sequence.
f. A mutation that alters a single amino acid in a protein.
g. A mutation caused by either inserting or deleting a nucleotide, shifting the reading frame.
h. A mutation caused by the removal of a base in the DNA sequence.

Multiple Choice

Circle the correct answer.

1. Which mutation does not affect the amino acid produced?

a. Missense
b. Nonsense
c. Silent
d. Frameshift
2. What is the effect of a frameshift mutation?
a. Only one amino acid is changed
b. The amino acid chain ends early
c. All codons beyond the mutation may be altered
d. It always results in a silent mutation
3. A point mutation changes: a. An entire chromosome
b. One nucleotide
c. The shape of the nucleus
d. The entire amino acid chain without exception

Critical Thinking

Answer in 1–2 sentences.

1. Why might a silent mutation not affect the organism at all?

2. Why can frameshift mutations be more harmful than point mutations?

 3. A mutation in a DNA sequence changes a codon from UAU to UAG. Predict how this change might
affect the resulting protein, and explain why.

4. How could a mutation be beneficial to an organism? Give an example or create a hypothetical situation.

5. Some genetic disorders are caused by frameshift mutations. Why might these mutations often result in
more severe effects than point mutations?

Inheritance

Different types of human traits are inherited in different ways. Some human traits have simple
inheritance patterns like the traits that Gregor Mendel studied in pea plants. Other human traits have
much more complex inheritance patterns.

Vocabularies:

• Gene – a short section of DNA within a chromosome that contributes to a characteristic.

• Allele – alternative forms of a single gene passed from generation to generation.

Example: gene for the seed color - green and yellow are the alleles or its different forms.

• Dominant Allele - an allele that show their effect even if the individual only has one copy of
the allele.

Example: the allele for brown eyes is dominant; therefore you only need one copy of the “B”
'brown eye' allele to have brown eyes (although, with two copies you will still have brown
eyes). BB or Bb = brown

• Recessive Allele - only show their effect if the individual has two copies of the allele.

Example: the allele for blue eyes is recessive, therefore to have blue eyes you need to have
two copies of the 'blue eye' allele. (bb) = blue

• Homozygous – an organism with two of the same alleles for a particular trait.
Example: GG, gg, hh, HH

• Heterozygous – an organism with two different alleles for a particular trait.

Example: Gg, Hh

• Genotype – the organism’s allele pairs.

Example: AA, Aa, aa

• Phenotype – the observable characteristic, what is expressed because of an allele pair.

 Example: green seed, yellow seed

• F1 generation is the first generation of offspring produced by a set of parent.

• Dihybrid Cross – cross that shows inheritance of two genes with two observable traits.

• Carrier – an individual who is heterozygous for a recessive disorder.

Monohybrid Inheritance

A monohybrid cross (single gene) looks at the probability of the offspring of two parents having
certain genotypes and phenotypes. This is done using the alleles the two parents have for a gene and
a Punnett square diagramm.

Uppercase letters are used to represent dominant characteristics. Lowercase letters represent
recessive characteristics.

Dihybrid cross

A dihybrid cross determines the genotypic and phenotypic combinations of offspring for two particular
genes. Because there are two genes, each with two alleles, there can be up to four different gamete
combinations

How to Complete a Dihybrid Cross

The inheritance of dihybrid traits can be calculated according to the following steps:

Step 1: Designate characters to represent the alleles

Uppercase letter for dominant allele, lower case letter for recessive allele

Step 2: Write down the genotype and phenotype of the parents (P generation)
Always pair alleles from the same gene and always write capitals first (e.g. AaBb, not ABab)

Step 3: Write down all potential gamete combinations for both parents
Use the FOIL method to identify all possible combinations

Step 4: Use a Punnett square to work out potential genotypes of offspring

Only include the different gamete combinations for each parent (e.g. AaBB has two combinations =
AB and aB)

Step 5: Write out the phenotype ratios of potential offspring

Phenotypic ratios reflect mathematical probabilities only and may not necessarily reflect actual
offspring ratios

Practice:

Q1:
In sheep, the allele for black wool (B) is dominant over the allele for white wool (b). Similarly, the
allele for horns (H) is dominant over the allele for being hornless (h). Pure breeding horned sheep
with black wool were crossed with pure breeding hornless sheep with white wool.

(a) State the genotype and the phenotype of the F1 individuals produced as a result of this cross.
(b) Two F1 offspring were mated together. Calculate the expected ratio of phenotypes in the F2
generation.
Q2:
In cats, the allele for grey fur (G) is dominant over the allele for beige fur (g). The allele for a solid
coat (S) is dominant over the allele for a striped coat (s). A homozygous solid, beige cat is crossed
with a homozygous striped, grey cat.

(a) State the genotype and the phenotype of the F1 individuals produced as a result of this cross.

(b) Calculate the phenotypes resulting from a cross between a pure breeding solid, beige cat and an
F1 offspring.