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In an example of a disease in humans caused by defects in DNA repair pathways, provide...

In an example of a disease in humans caused by defects in DNA repair pathways, provide information about the damage factor, the mechanism of occurrence, the gene that can cause the disease when mutated by damage, and the changed protein product.
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Answer #1

Disease example- Ataxia-telangiectasia.

Cause- It is caused by mutations in a gene called ATM gene located on chromosome 11.

This ATM gene product is known to coordinate DNA repair pathways by activating the enzymes that fix the damaged DNA strands. In this way, ATM gene helps to maintain the stability of the cell's genetic information.

Damage factors - These include various radiations like UV and ionizing radiation, alkylating agents or crosslinking agents that interfere with DNA-repair pathways.

Mechanism of occurence: It occurs due to major defects in DNA damage response and DSB (double-stranded break) repair as the ATM protein is not able to execute the repair function.  

Gene mutated by damage- ATM gene

Changed protein product- ATM gene product

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