Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene

Wendy L. Flejter, Lisa D. McDaniel, David Johns, Errol C. Friedberg, Roger A. Schultz

Research output: Contribution to journalArticle

153 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)261-265
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume89
Issue number1
StatePublished - 1992

Fingerprint

Xeroderma Pigmentosum
DNA Repair
Human Chromosomes
Chromosomes
Phenotype
Genes
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 16
Cosmids
Somatostatin-Secreting Cells
Chromosome Mapping
Multigene Family
Cultured Cells
Radiation
Complementation Group D Xeroderma Pigmentosum

Keywords

  • Chromosome mapping
  • Excision repair
  • Genetic complementation
  • Ultraviolet radiation

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

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title = "Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene",
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 = "Chromosome mapping, Excision repair, Genetic complementation, Ultraviolet radiation",
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T1 - Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer

T2 - Involvement of the human ERCC2 DNA repair gene

AU - Flejter, Wendy L.

AU - McDaniel, Lisa D.

AU - Johns, David

AU - Friedberg, Errol C.

AU - Schultz, Roger A.

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

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