XERODERMA-PIGMENTOSUM AND RELATED DISORDERS - EXAMINING THE LINKAGE BETWEEN DEFECTIVE-DNA REPAIR AND CANCER

被引：55

作者：

KRAEMER, KH ^{[1
]}

LEVY, DD ^{[1
]}

PARRIS, CN ^{[1
]}

GOZUKARA, EM ^{[1
]}

MORIWAKI, S ^{[1
]}

ADELBERG, S ^{[1
]}

SEIDMAN, MM ^{[1
]}

机构：

[1] OTSU PHARMACEUT, ROCKVILLE, MD USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1994年 / 103卷 / 05期

关键词：

COCKAYNE SYNDROME; TRICHOTHIODYSTROPHY; DYSPLASTIC NEVUS SYNDROME; COMPLEMENTATION GROUPS;

D O I：

10.1111/1523-1747.ep12399329

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum-Cockayne syndrome complex, and trichothiodystrophy cells have defects in DNA repair and are associated with clinical and cellular hypersensitivity to ultraviolet radiation (UV). Familial dysplastic nevus syndrome cells have UV hypermutability. Although xeroderma pigmentosum and dysplastic nevus syndrome have markedly increased cancer risk, Cockayne syndrome and trichothiodystrophy do not. At the molecular level, these disorders are associated with several different genetic defects as evidenced by the existence of multiple overlapping complementation groups. Recent progress has been made in identifying the chromosomal location and cloning the defective genes in these disorders. Using plasmid shuttle vectors we have shown abnormal repair and mutagenesis of DNA damaged by 254-nm (UVC) or 295-nm (UVB) radiation or the chemical carcinogen aflatoxin in cells from patients with xeroderma pigmentosum. Although xeroderma pigmentosum cells are defective in repair of all photoproducts, Cockayne syndrome cells appear to be defective in repair of cyclobutane dimers and have normal repair of nondimer photoproducts. DNS cells have post UV plasmid hypermutability. These diseases may serve as models for examining molecular mechanisms of carcinogenesis in humans.

引用

页码：S96 / S101

页数：6

共 58 条

[1] XERODERMA PIGMENTOSUM NEUROLOGICAL ABNORMALITIES CORRELATE WITH COLONY-FORMING ABILITY AFTER ULTRAVIOLET-RADIATION [J].