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ESO Y4B · Biology and Geology
Genetics and evolution · Hereditary material

Gene expression

Having the information written down is no use if it is never put to work. DNA stores the instructions, but they only take effect when they are "read" and used to make proteins: this two-stage process, transcription and translation, is called gene expression, and it is what is known as the central dogma of molecular biology.

Before you start, make sure you know: Types of cell: prokaryotic and eukaryotic (1st ESO)

Transcription: from DNA to messenger RNA

DNA keeps the master instructions inside the cell nucleus and never leaves it, to avoid being damaged, but the ribosomes that make proteins are outside, in the cytoplasm: how does the genetic information travel without putting the original at risk?

Transcription in the nucleus: an enzyme, RNA polymerase, opens the DNA double helix and synthesises an mRNA complementary to the template strand. The mRNA then leaves through a nuclear pore into the cytoplasm. cytoplasm nucleus 3' 5' DNA 5' mRNA (complementary copy) nuclear pore leaves into the cytoplasm 5' 3' mature mRNA template strand (DNA) RNA polymerase
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Define transcription: which molecule acts as the template, which molecule is made and in which part of the eukaryotic cell it takes place.

Define transcription: which molecule acts as the template, which molecule is made and in which part of the eukaryotic cell it takes place.

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During transcription, each base of the DNA template strand determines which base the mRNA will carry. State which base the mRNA will place opposite an A, a T, a G and a…

During transcription, each base of the DNA template strand determines which base the mRNA will carry. State which base the mRNA will place opposite an A, a T, a G and a C of the template, remembering that RNA has no thymine.

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The template strand of a gene has the sequence 3'-TAC GGA TTT-5'. Write the sequence of the messenger RNA synthesised from it, keeping in mind that in RNA, thymine is…

The template strand of a gene has the sequence 3'-TAC GGA TTT-5'. Write the sequence of the messenger RNA synthesised from it, keeping in mind that in RNA, thymine is replaced by uracil.

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The genetic code: triplets and degeneracy

An mRNA codon or triplet, AUG, is translated into the amino acid methionine; there are 64 codons for 20 amino acids, so the code is degenerate. mRNA A U G AUG codon (start) methionine 64 codons 20 amino acids → degenerate code
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What is the genetic code? Explain what a codon is and how many bases make it up.

What is the genetic code? Explain what a codon is and how many bases make it up.

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Two patients with point mutations in the same codon of their mature mRNA are analyzed; the original codon was GAA (encodes glutamic acid): In patient A, the codon…

Two patients with point mutations in the same codon of their mature mRNA are analyzed; the original codon was GAA (encodes glutamic acid):

  • In patient A, the codon mutates to GAG (encodes glutamic acid).

  • In patient B, it mutates to GUA (encodes valine).

  1. a) Based on the properties of the genetic code, justify why patient A shows no alteration while patient B presents a non-functional enzyme.
  2. b) Could a "silent mutation" like the one in patient A exist if the genetic code were not degenerate? Justify your answer by deducing what consequences mutations would have in a hypothetical code with only one codon per amino acid.
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A bacterium synthesizes an oligopeptide from the following mature mRNA fragment: 5'-... AUG GCC UUU UAA ...-3' A mutagenic agent causes the deletion (loss) of the first…

A bacterium synthesizes an oligopeptide from the following mature mRNA fragment:

5'-... AUG GCC UUU UAA ...-3'

A mutagenic agent causes the deletion (loss) of the first nucleotide of the codon GCC (the first cytosine), resulting in the sequence: 5'-... AUG GCU UUU AA...-3'.

Given that:

  • AUG = Methionine (start)

  • GCC = Alanine; GCU = Alanine; UUU = Phenylalanine; UUA = Leucine

  • UAA = Stop (termination)

  1. a) Write the resulting amino acid sequence before and after the mutation.
  2. b) Justify why a reading frameshift mutation (deletion or insertion) usually has much more severe consequences for protein function than a single base substitution mutation.
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Translation and the reading frame

The mRNA message is written in an alphabet of just 4 chemical letters (A, U, G, C), but proteins are built by combining 20 different amino acids: how does the cell manage to specify 20 different pieces using only 4 letters?

Animation of translation: the mRNA slides through the ribosome one codon at a time; at each step a new amino acid arrives and joins the chain, which leaves on the left of the ribosome. When the stop codon, marked in orange, is reached, the protein is released and everything returns to the start. ribosome mRNA read triplet by triplet chain of amino acids = protein
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Explain the role of the ribosome and transfer RNA (tRNA) during translation: where does each bind and what does tRNA transport?

Explain the role of the ribosome and transfer RNA (tRNA) during translation: where does each bind and what does tRNA transport?

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A messenger RNA carries the sequence 5'-AUG GCU CAA-3'. Reconstruct the sequence of the DNA template strand from which it was transcribed, indicating its direction.

A messenger RNA carries the sequence 5'-AUG GCU CAA-3'. Reconstruct the sequence of the DNA template strand from which it was transcribed, indicating its direction.

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Insulin is a protein of $51$ amino acids. Given that the mRNA also needs a stop codon, calculate the minimum number of nucleotides in the coding part of its mRNA and…

Insulin is a protein of $51$ amino acids. Given that the mRNA also needs a stop codon, calculate the minimum number of nucleotides in the coding part of its mRNA and explain the calculation.

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Differential gene expression

A neuron, a muscle cell and a skin cell have the same DNA with the same genes in their nucleus, but each one activates a different subset of those genes. The same DNA in every cell DNA genes neuron muscle cell skin cell active gene (expressed) inactive gene (silenced) each cell type expresses a different subset of genes
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A student claims: "Since a neuron and a skin cell have completely different functions and shapes, their DNA molecules must be different; for example, the neuron has…

A student claims: "Since a neuron and a skin cell have completely different functions and shapes, their DNA molecules must be different; for example, the neuron has eliminated the genes for skin proteins that it does not need."

  1. a) Refute the student's statement by explaining what we would actually find if we sequenced the genomic DNA of both cell types.
  2. b) If the DNA is identical, predict and justify what differences you would expect to find when analyzing the types of mRNA and proteins present in the cytoplasm of both cells.
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Thanks to genetic engineering, it is possible to introduce the human insulin gene into the bacterium Escherichia coli* and have this bacterium produce insulin identical…

Thanks to genetic engineering, it is possible to introduce the human insulin gene into the bacterium Escherichia coli and have this bacterium produce insulin identical to ours.

  1. a) What fundamental characteristic of the genetic code makes it possible for a bacterium to correctly interpret the instructions of a human gene? Justify what evolutionary conclusion about the common origin of all living things is drawn from this fact.
  2. b) Imagine that the genetic code did not share this characteristic and was species-specific. What would happen upon introducing the human gene into the bacterium? Justify your deduction.
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Summary

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