Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.
- 1 January 1992
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 89 (1) , 261-265
- https://doi.org/10.1073/pnas.89.1.261
Abstract
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. We 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.Keywords
This publication has 34 references indexed in Scilit:
- Complementation of a DNA repair defect in xeroderma pigmentosum cells by transfer of human chromosome 9.Proceedings of the National Academy of Sciences, 1989
- Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.Proceedings of the National Academy of Sciences, 1989
- HUMAN CHROMOSOME-15 CONFERS PARTIAL COMPLEMENTATION OF PHENOTYPES TO XERODERMA PIGMENTOSUM GROUP F-CELLS1989
- The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through IMutation Research/DNA Repair, 1989
- Lack of complementation between xeroderma pigmentosum complementation groups D and HHuman Genetics, 1989
- Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19Cytogenetic and Genome Research, 1989
- An eighth complementation group of rodent cells hypersensitive to ultraviolet radiationSomatic Cell and Molecular Genetics, 1988
- Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.Molecular and Cellular Biology, 1988
- Microcell-mediated transfer of a single human chromosome complements xeroderma pigmentosum group A fibroblasts.Proceedings of the National Academy of Sciences, 1987
- [11] Use of tritium-labeled precursors to select mutantsPublished by Elsevier ,1987