Explain the effects of a substitution mutation on protein production and function

Changes the codon which could mean a different amino acid – changes primary structure

Genetic code is degenerate – may mean the codon codes for the same amino acid

Explain the effects of an insertion or deletion mutation on protein production and function

The addition or deletion of a nucleotide changes the reading frame (bases are transcribed in groups of
three)

This changes every codon from the point of mutation

State and explain the effects of gene mutations

- No effect (proteins still synthesised)

- Harmful (proteins aren’t synthesised or the protein is non-functional. This interferes with
processes affecting the phenotype negatively)
- Beneficial (a new and useful characteristic in the phenotype)

Why is gene regulation needed?

Expressing genes only when the products are needed prevents vital resources being wasted

It is required for cells to specialise and work in a coordinated way

What are the different ways genes can be regulated? Give examples of each

Transcriptional level – genes can be turned on or off (lac operon)

Post-transcriptional level – mRNA can be modified (primary mRNA is edited to produce mature mRNA)

Post-translational level - proteins are modified after synthesis (activations of proteins by cAMP)

What mechanisms affect transcription of genes?

- Chromatin remodelling: protein synthesis occurs during interphase between cell divisions. This is
because it is dependent on how tightly coiled the chromatin is
- Histone modification: histones can be modified to increase or decrease the degree of packing
(how tightly DNA is coiled). Coiled more tightly = prevents transcription. Epigenetics (control of
gene expression by the modification of DNA)

What is an operon?
A group of genes that are under the control of the same regulatory mechanism and are expressed at the
same time

More common in prokaryotes

Glucose is used as a respiratory substrate by bacteria. When it is in short supply, lactose is used.
Different enzymes are needed to metabolise lactose. What is lac operon and how is it a structural gene?
What is a regulatory gene and a repressor protein?

Lac operon – a group of three genes involved in metabolism of lactose. They are structural genes
because they code for three enzymes

A regulatory gene codes for a repressor protein that prevents the transcription of the structural genes in
the absence of lactose

What is an operator and what happens when the repressor protein binds to the operator?

Operator – segment of DNA that a repressor binds to inhibit the transcription of a gene

Prevents RNA polymerase binding to DNA and beginning transcription

What happens when lactose is absent?

The regulatory gene is transcribed and translated = protein

The repressor protein binds to the operator

RNA polymerase cannot bind to the promoter region

Transcription of the structural gene does not take place

No lactase enzyme made

What happens when lactose is present?

Lactose binds to the repressor protein causing it to change shape so it cannot bind to the operator

RNA polymerase binds to the promoter and transcription takes place

The three structural genes are transcribed

The enzyme lactase is synthesised

Lactose can be broken down

[Regulatory mechanisms]

Describe the activation of proteins by cAMP at the post-translational level

Some proteins require activation by cAMP (it activates protein kinases)

CAMP activates protein kinase A which is an inactive precursor enzyme

Once it is activated it can activate other proteins

[regulatory mechanisms]

Describe the editing of primary mRNA at the post-transcriptional level

Primary mRNA is edited to remove introns (non-coding sections of DNA). Only exons remain which are
fused together to form mature mRNA

What is the difference between structural genes and regulatory genes?

Regulatory genes codes for a protein that helps to control the expression of another gene

Structural genes codes for a protein that has a function within a cell

Regulatory genes control structural genes

Define homeobox genes

A genetic sequence that helps to control the development of an organism by instructing cells where to
go and what roles to play during growth

Homeobox gene sequences is highly conserved in plants, animals and fungi

What are hox genes?

One group of homeobox genes that are only present in animals. They are responsible for the correct
positioning of body parts

Hox genes regulate apoptosis and mitosis. What are these? Explain

Mitosis results in cell division (increasing number of cells) and growth

Apoptosis is programmed cell death. Apoptosis shapes different body parts by removing unwanted cells
and tissues
What is the expression of regulatory genes influences by?

By internal and external factors

For example, stress (the condition produced when the homeostatic balance within an organism is
disrupted)

e.g., change in temperature or light intensity – external factors. The release of hormone or psychological
stress