A 4 years old child was brought to Pediatric OPD with complaints of dry skin, freckles and severe sunburns after spending just a few minutes in the sun. He was diagnosed with xeroderma pigmentosu. In this genetic disease, the cell fails to repair the damaged DNA, due to a defect in the:Select one:a. Direct repairb. Base excision repairc. Nucleotide excision repaird. Mismatch repairClear my choice
Question
A 4 years old child was brought to Pediatric OPD with complaints of dry skin, freckles and severe sunburns after spending just a few minutes in the sun. He was diagnosed with xeroderma pigmentosu. In this genetic disease, the cell fails to repair the damaged DNA, due to a defect in the:Select one:a. Direct repairb. Base excision repairc. Nucleotide excision repaird. Mismatch repairClear my choice
Solution
The correct answer is c. Nucleotide excision repair.
Xeroderma pigmentosum is a rare genetic disorder where the body's normal process of repairing damage to skin cells caused by ultraviolet (UV) light is not functioning properly. This is due to a defect in the nucleotide excision repair (NER) pathway, which is responsible for recognizing and repairing bulky DNA damage caused by UV light and chemicals.
Here's a step-by-step breakdown:
- UV light causes damage to the DNA in skin cells, which can lead to mutations and cell death.
- Normally, the body has a mechanism to repair this damage, known as nucleotide excision repair.
- In nucleotide excision repair, enzymes recognize and remove the damaged section of DNA, and then fill in the gap with new, undamaged DNA.
- However, in xeroderma pigmentosum, there is a defect in this repair mechanism, so the damage is not repaired.
- This leads to the symptoms of the disease, such as dry skin, freckles, and severe sunburns after minimal sun exposure.
Similar Questions
Which repair pathway would be used to repair a cytosine that has been turned into a uracil Group of answer choices nucleotide excision repair Base excision repair None of them. Uracil is a normal base so this is not a problem Mismatch repair
Which is true about base excision repair:Group of answer choicesIt can repair pyrimidine dimers.DNA polymerase I replaces the short row of nucleotides using its 3’ to 5’ exonuclease activity.In E. coli, it repairs a mismatch in a newly synthesised DNA strand.DNA ligase is required to repair the nick formed by DNA polymerase I
Which accurately describes the Base excision repair pathway of DNA repair?Group of answer choicesIt starts with DNA glycosylase cutting the DNA backbone. It can repair the DNA without cutting the phosphate backboneIt is the main pathway for repairing large lesions like thymine dimers.It can be used to repair missing bases or damaged bases.
Which of these DNA repair mechanisms is most likely to result in mutation?Group of answer choicesBase excision repair.Non-homologous end-joining.Mismatch repair.Nucleotide excision repair.
Vraag:Wat houdt het proces van ‘mismatch repair’ in?Het screenen van het DNA in de dochterstreng op fout ingebouwde nucleotiden en het vervangen daarvan door de juisteHet screenen van het gevormde mRNA op fout ingebouwde nucleotiden en het vervangen daarvan door de juisteHet screenen van een nieuw gevormd eiwit op fout ingebouwde aminozuren en het vervangen daarvan door de juiste
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