The versatile DNA nucleotide excision repair (NER) and its medical significance.
Two of DNA's worst enemies, ultraviolet light and chemical carcinogens, can cause damage to the molecule by mutating individual nucleotides or changing its physical structure. In most cases, genomic integrity is restored by specialized suites of proteins dedicated to repairing specific types of injuries. One restoration mechanism, called nucleotide excision repair (NER), recruits and coordinates the services of 20-30 proteins to recognize and remove structure-impairing lesions, including those induced by ultraviolet (UV) light. Mutations in a gene that encodes a protein from the NER machinery might cause a wide variety of rare inherited human disorders. Sun sensitivity, cancer, developmental retardation, neurodegeneration and premature aging characterize these syndromes. Identification of the causative genes and proteins in affected families in Israel allowed us to establish accurate molecular diagnosis of couples at risk, and provide them with better genetic counseling.
Falik-Zaccai
Tzipora C
TC
Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel. Tzipora.falik@naharia.health.gov.il
Keren
Zohar
Z
Slor
Hanoch
H
D000328:Adult; D019588:Aging, Premature / Q000235:genetics / Q000378:metabolism; D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004260:DNA Repair; D006801:Humans; D007223:Infant; D009381:Neoplasms, Radiation-Induced / Q000235:genetics / Q000378:metabolism; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D054463:Trichothiodystrophy Syndromes / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism