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Biochemistry · Chromosome ends: telomerase
Sample itemA 12-year-old boy has nail dystrophy, oral leukoplakia, reticulate skin pigmentation and progressive bone marrow failure. Mutations affect a ribonucleoprotein that maintains chromosome ends. How does the normal enzyme work?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. It uses an internal RNA template to add TTAGGG repeats to the 3' end of the chromosome
Telomerase is a reverse transcriptase that carries its own RNA component (TERC) and extends the 3' overhang of telomeric DNA with TTAGGG repeats. This solves the end-replication problem, in which the lagging strand cannot be fully copied. Defective telomerase causes dyskeratosis congenita, with stem cell failure from critically short telomeres.
Option by option
A. It uses an internal RNA template to add TTAGGG repeats to the 3' end of the chromosome (correct)
Telomerase extends the 3' end using its RNA template, preserving telomere length.
B. It uses a DNA template to add repeats to the 5' end of the lagging strand
Telomerase uses an RNA, not a DNA, template and extends the 3' end.
C. It removes RNA primers from the 5' end of the lagging strand
Primer removal is the job of DNA polymerase I in prokaryotes and of FEN1 and RNase H in eukaryotes.
D. It repairs thymine dimers at chromosome ends by excision
Thymine dimer repair is nucleotide excision repair, a different process.
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.
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