Try it
Biochemistry · Molecular biology and genetics: non-homologous end joining
Sample itemAn infant has severe combined immunodeficiency with absent T and B cells and marked radiosensitivity. Sequencing shows a mutation in Artemis, which is needed for V(D)J recombination. Which DNA repair pathway is impaired?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Non-homologous end joining of double-strand breaks
Artemis works with Ku and DNA-PK in non-homologous end joining, which also opens hairpins during V(D)J recombination. Its loss prevents antigen receptor assembly and leaves cells sensitive to ionising radiation. This explains both the immunodeficiency and the radiosensitivity.
Option by option
A. Mismatch repair
Mismatch repair corrects replication errors.
B. Base excision repair
Base excision repair fixes damaged single bases and is not needed for receptor assembly.
C. Non-homologous end joining of double-strand breaks (correct)
Correct. NHEJ repairs double-strand breaks and opens the hairpins formed in V(D)J recombination.
D. Nucleotide excision repair
Nucleotide excision repair removes bulky lesions such as thymine dimers.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Biochemistry questions
- Nucleotide metabolismA 4-year-old boy has intellectual disability, dystonia, self-mutilation and hyperuricaem…
- VitaminsA patient with megaloblastic anaemia and mild neurological signs has raised serum methyl…
- Amino acid metabolismA baby has a mousy odour, fair skin and developmental delay. Which enzyme is deficient?
- Glycogen storage diseasesA child has severe fasting hypoglycaemia, hepatomegaly, lactic acidosis and hyperuricaem…