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Proceedings Paper

Genetics of human sensitivity to ultraviolet radiation
Author(s): James E. Cleaver
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Paper Abstract

the major human health effects of solar and artificial UV light occur from the UVB and UVC wavelength ranges and involve a variety of short-term and long-term deleterious changes to the skin and eyes. the more important initial damage to cellular macromolecules involves dimerization of adjacent pyrimidines in DNA to produce cyclobutane pyrimidine dimes, (6-4) pyrimidine- pyrimidone, and (6-4) dewar photoproducts. these photoproducts can be repaired by a genetically regulated enzyme system (nucleotide excision repair) which removes oligonucleotides 29-30 nucleotides long that contain the photoproducts, and synthesizes replacement patches. At least a dozen gene products are involved in the process of recognizing photoproducts in DNA, altering local DNA helicity and cleaving the polynucleotide chain at defined positions either side of a photoproduct. Hereditary mutations in many of these genes are recognized in the human genetic disorders xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). Several of the gene products have other functions involving the regulation of gene transcription which accounts for the complex clinical presentation of repair deficient diseases that involve sensitivity of the skin and eyes to UV light, increased solar carcinogenesis (in XP), demyelination, and ganglial calcification (in CS), hair abnormalities (in TTD), and developmental and neurological abnormalities

Paper Details

Date Published: 21 July 1994
PDF: 10 pages
Proc. SPIE 2134, Laser-Tissue Interaction V; and Ultraviolet Radiation Hazards, (21 July 1994); doi: 10.1117/12.180813
Show Author Affiliations
James E. Cleaver, Univ. of California/San Francisco (United States)


Published in SPIE Proceedings Vol. 2134:
Laser-Tissue Interaction V; and Ultraviolet Radiation Hazards
Steven L. Jacques; David H. Sliney; Michael Belkin, Editor(s)

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