nucleotide excision repair

What are the Consequences of Defective NER?

Defects in NER can lead to severe genetic disorders. For instance, Xeroderma Pigmentosum (XP) is characterized by extreme sensitivity to UV light and a high predisposition to skin cancers. Patients with XP have mutations in genes encoding NER proteins, highlighting the critical role of NER in preventing UV-induced DNA damage. Another disorder, Cockayne Syndrome (CS), results from defects in TC-NER, leading to symptoms such as growth retardation, neurological degeneration, and premature aging.

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