Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene
Journal Article
·
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
- Univ. of Maryland, Baltimore (United States)
- Univ. of Texas, Dallas (United States)
Cultured cells from individuals afflicted with the genetically heterogeneous autosomal recessive disorder xeroderma pigmentosum (XP) exhibit sensitivity to UV radiation and defective nucleotide excision repair. Complementation of these mutant phenotypes after the introduction of single human chromosomes from repair-proficient cells into XP cells has provided a means of mapping the genes involved in this disease. The authors now report the phenotypic correction of XP cells from genetic complementation group D (XP-D) by a single human chromosome designated Tneo. Detailed molecular characterization of Tneo revealed a rearranged structure involving human chromosomes 16 and 19, including the excision repair cross-complementing 2 (ERCC2) gene from the previously described human DNA repair gene cluster at 19q13.2-q13.3. Direct transfer of a cosmid bearing the ERCC2 gene conferred UV resistance to XP-D cells.
- OSTI ID:
- 5611589
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 89:1; ISSN 0027-8424; ISSN PNASA
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
560120* -- Radiation Effects on Biochemicals
Cells
& Tissue Culture
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL CELLS
AUTORADIOGRAPHY
BIOLOGICAL EFFECTS
BIOLOGICAL RADIATION EFFECTS
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
DNA
DNA REPAIR
ELECTROMAGNETIC RADIATION
EXCISION REPAIR
EXTREME ULTRAVIOLET RADIATION
GENE RECOMBINATION
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PHENOTYPE
RADIATION EFFECTS
RADIATIONS
RECOVERY
REPAIR
ULTRAVIOLET RADIATION
XP CELLS
Cells
& Tissue Culture
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL CELLS
AUTORADIOGRAPHY
BIOLOGICAL EFFECTS
BIOLOGICAL RADIATION EFFECTS
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
DNA
DNA REPAIR
ELECTROMAGNETIC RADIATION
EXCISION REPAIR
EXTREME ULTRAVIOLET RADIATION
GENE RECOMBINATION
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PHENOTYPE
RADIATION EFFECTS
RADIATIONS
RECOVERY
REPAIR
ULTRAVIOLET RADIATION
XP CELLS