Xeroderma pigmentosum: progress and regress

Journal Article · Sun Dec 31 23:00:00 EST 1972 · J. Invest. Dermatol., v. 60, no. 6, pp. 374-380

DOI:https://doi.org/10.1111/1523-1747.ep12702186· OSTI ID:4420597

Cleaver, J E

Xeroderma pigmentosum is an autosomal recessive human skin disease whose outstanding clinical symptom is an increased frequency of actinic carcinogenesis. The most common form of XP has a reduced capacity for excision repair of uv damage to DNA; the site of the defect is at the initial stage of the repair pathway. These XP celis are precisely analogous to bacterial strains UVR/sup -/ HCR/sup -/. Two minor variants of the disease with similar skin symptoms are known. One has a similar but complementary defect in excision repair and additional severe neurological symptoms. The other apparently has normal excision repair and normal uv sensitivity in vitro. From considerations of resolution and our experience in one test case, prenatal diagnosis of XP is practicable, and autoradiography (to measure unscheduled synthesis) is the most reliable and sensitive method to use although several other methods are also applicable. Carcinogenesis in XP may develop through the unrepaired damage in DNA which leads to genetic changes (mutations, chromosome aberrations) or viral transformation. (auth)

• Research Organization: Univ. of California, San Francisco
• NSA Number: NSA-29-000682
• OSTI ID: 4420597
• Report Number(s): UCSF--10-P-2-143
• Journal Information: J. Invest. Dermatol., v. 60, no. 6, pp. 374-380, Journal Name: J. Invest. Dermatol., v. 60, no. 6, pp. 374-380; ISSN JIDEA
• Country of Publication: United States
• Language: English

Related Subjects

*ANIMAL CELLS-- RADIOSENSITIVITY
*DNA-- BIOLOGICAL REPAIR
*SKIN DISEASES-- RADIOSENSITIVITY
*SKIN-- CARCINOGENESIS
AUTORADIOGRAPHY
BACTERIA
BIOLOGICAL RADIATION EFFECTS
DIAGNOSIS
GENETICS
MAN
N48510* --Life Sciences--Radiation Effects on Animals--Man
NERVOUS SYSTEM
PHOTON BEAMS
ULTRAVIOLET RADIATION