Explain why a mutation in the promoter region of a gene may result in a non-functional protein being produced at a lower than normal rate, even though the coding sequence of the gene is unchanged.

OCR A-Level Biology A (H420) — 6.1 Cellular control · Explain · 4 marks · View as Markdown

Written & reviewed by James Millett — Biology (Imperial College London), PGCE Science (University of Cambridge).

Transcription factors are proteins that bind to specific DNA sequences near genes and influence the rate at which RNA polymerase initiates transcription. Mutations can affect any region of a gene, including regulatory sequences upstream of the coding region.

Model answer (4 marks)

A mutation in the promoter changes the DNA sequence that RNA polymerase and transcription factors recognise. The altered sequence reduces binding affinity, so RNA polymerase initiates transcription less efficiently. Consequently fewer mRNA molecules are synthesised. With less mRNA available, ribosomes translate fewer copies, giving a lower amount of protein. The protein produced is still non‑functional because the coding sequence is unchanged, but its quantity is reduced.

Examiner tips

  • Mention the promoter as the RNA polymerase binding site
  • Explain how a sequence change reduces binding and transcription
  • Link reduced mRNA to reduced translation
  • State that the protein is still non‑functional because the coding region is intact

Common mistakes

  • Confusing the coding sequence with the promoter; claiming the protein sequence changes
  • Forgetting to mention the role of transcription factors
  • Over‑emphasising the protein being non‑functional when the question is about production rate

Mark scheme (4 marks)

  1. The promoter is the region where RNA polymerase binds to initiate transcription
  2. A mutation in the promoter alters the base sequence, reducing the ability of RNA polymerase (or transcription factors) to bind
  3. Less / reduced transcription occurs, so less mRNA is produced
  4. Less mRNA means less translation occurs, so less protein is produced; the protein itself is non-functional because the coding sequence is unaltered but production rate is reduced

Key terms in this question

promoter region · coding sequence

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