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Genetics and evolution · Hereditary material

Gene Expression

Before you start, make sure you know: Cell types: prokaryotic and eukaryotic cells (Secondary Year 1)

The corn in a tortilla and the corn in an elote have the same DNA in every kernel, but only some cells make the protein that gives pigmented corn its blue color. How does a cell "use" the information stored in its DNA, and why don't all cells make the same proteins? This two-stage process, transcription and translation, is called gene expression.

Transcription: from DNA to mRNA

DNA keeps the instructions inside the nucleus and never leaves it, but the ribosomes that make proteins are in the cytoplasm. How does the information travel without risking the original? By making a working copy.

Transcription in the nucleus: an enzyme, RNA polymerase, opens the DNA double helix and builds an mRNA complementary to the template strand. Then the mRNA leaves through a nuclear pore into the cytoplasm. cytoplasm nucleus 3' 5' DNA 5' mRNA (complementary copy) nuclear pore exits to the cytoplasm 5' 3' mature mRNA template strand (DNA) RNA polymerase
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Explain in your own words what it means when a cell "expresses a gene", and why the final result of this expression is a protein.

Explain in your own words what it means when a cell "expresses a gene", and why the final result of this expression is a protein.

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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

Why three bases? With 4 letters, groups of 1 would give only 4 combinations and groups of 2 would give 16: not enough for 20 amino acids. With 3 you get 64, which is enough.

One 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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Translation and the reading frame

The mRNA message uses only 4 letters (A, U, G, C), but proteins are built from 20 amino acids. We already saw the key: it is read three bases at a time. What's left is to see who does the reading.

Animation of translation: the mRNA slides through the ribosome one codon at a time; at each step a new amino acid arrives and attaches to the chain, which exits 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. chain of amino acids = protein ribosome mRNA read triplet by triplet

A summary of the differences between the two stages:

Transcription Translation
Molecule produced mRNA Protein (chain of amino acids)
Location (eukaryotic cell) Nucleus Ribosomes in the cytoplasm
Template DNA template strand mRNA
Participants RNA polymerase Ribosome and tRNA
Diagram of a eukaryotic cell: in the nucleus, transcription from DNA to mRNA takes place, and in the cytoplasm, at the ribosome, translation from mRNA to protein takes place. nucleus DNA transcription mRNA translation (ribosome) protein
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Look at the diagram of a eukaryotic cell representing gene expression: labels ?1 and ?2 show where transcription and translation take place, without indicating which is…

Look at the diagram of a eukaryotic cell representing gene expression: labels ?1 and ?2 show where transcription and translation take place, without indicating which is which. State which process occurs at each labelled point and where in the cell it takes place.

Cytoplasm Nucleus DNA mRNA Ribosome Protein ?1 ?2
Solve
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State two differences between transcription and translation: the molecule produced in each process and the location where it occurs.

State two differences between transcription and translation: the molecule produced in each process and the location where it occurs.

Solve
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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?

Solve
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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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Differential gene expression

Why does it matter? If every cell used all its genes at once, there would be no specialized tissues. What sets a cell apart is not the DNA it has, but the mRNAs and proteins it produces.

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 all cells DNA genes neuron muscle cell skin cell active gene (expressed) inactive gene (silenced) each cell type expresses a different subset of genes

Back to the beginning: the pigmented corn kernel has the color gene in all of its cells, but it is expressed (transcribed and translated) only in the cells where that protein is needed.

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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.
Solve

Summary

See all the exercises in this section