What is a mutation
An alteration to the DNA base sequence
What are addition and deletion mutations and why? [2]
Where one or more nucleotides (bases) are either inserted or deleted from the DNA sequence
More likely to be either harmful or beneficial, due to frame shift which means the entire amino acid sequence will be different
What is a substitution mutation? [2]
When a nucletotide in the DNA sequence is replaced by another
More likely to be a neutral mutation, meaning no change occurs in the amino acid sequence
How is gene expression regulated at the transcriptional level? [2]
Transcription factors
These are proteins that can either initiate or inhibit the transcription of genes, so that only certain parts of the DNA are expressed
Describe the function of the lac operon in low lactose concentrations [2]
E.coli can use lactose as a respiratory substrate, via use of an enzyme
When lactose concentration is low, the lac operon binds to the gene that makes this enzyme and inhibits its expression
Describe the function of the lac operon in high lactose concentrations [2]
Lactose binds to the operon, causing it to change shape and unattach from the gene.
Allows RNA polymerase to bind and the gene to be expressed
How is gene expression regulated at the post-transcriptional level? [2]
This is done through splicing
Primary mRNA contains both coding regions (exons) and non-coding (introns) regions
The introns are removed to produce mature mRNA ready for translation
How is gene expression regulated at the post-translational level? [1]
Activation of proteins,such as adrenaline through a second messenger system with cAMP
How is development controlled by homebox genes?
Code for transcription factors that activate genes when they’re needed during development of a zygote.
What is special about homebox genes?
Their sequences are similar in plants,animals and fungi
How is development controlled by mitosis? [2]
Mitosis is the primary mechanism of growth
Genes regulating mitosis respond to various stimuli, both internal and external, in order to control rate of growth
How is development controlled by apoptosis? [2]
Programmes cell death
It is highly controlled and keeps cell division at a constant rate as to prevent cancer
What are the three types of mutations to do with effects?
Silent mutation
Mid-sense
Non-sense
What is a silent mutation?
No change in amino acid sequence
What is a mis-sense mutation?
A mutation that changes the amino acid coded for
What is a non-sense mutation?
A mutation that codes for a stop codon, causing protein synthesis to stop
What are epigenetics?
Genetics affected by environmental factors
What is a homebox gene?
180 base pair amino acid sequence
What is a hox gene?
Gene responsible for body symmetry that is only found in animals
What is the process of apoptosis? [4]
Intracellular enzyme that breaks down the cytoskeleton among other proteins, causing the cell to shrink
Blebs form on cell surface membrane
Cell breaks into vesicles
Vesicles are engulfed by phagocytes