Citation

Defective repair replication of DNA in xeroderma pigmentosum

Cleaver, J.E.

Nature (1968)

TL;DR

Xeroderma pigmentosum results from NER gene mutations

Discovery linking xeroderma pigmentosum to nucleotide excision repair defects, demonstrating consequences of impaired DNA repair redundancy. Patients with this condition survive because other repair pathways partially compensate, but their elevated cancer rates reveal the critical protective role of redundant repair systems.

Key Findings from Cleaver (1968)

  • Xeroderma pigmentosum results from NER gene mutations
  • Causes extreme UV sensitivity and cancer predisposition
  • Other repair pathways partially compensate allowing survival
  • Elevated cancer rates reveal value of redundant repair

Related Mechanisms for Defective repair replication of DNA in xeroderma pigmentosum

DNA Repair Mechanisms

The Biology of Business

Sign up to be notified when the book is available to order.

Notify Me