ArticleHuman genetics1994
A human gene that restores the DNA-repair defect in SCID mice is located on 8p11.1-->q11.1.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 37 citations in OpenAlex.
- Stability of transferred human chromosome fragments in cultured cells and in mice.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2000Article
- Human monochromosome hybrid cell panel characterized by FISH in the JCRB/HSRRB.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2000Article
- DNA double-strand break repair proteins are required to cap the ends of mammalian chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- XR-C1, a new CHO cell mutant which is defective in DNA-PKcs, is impaired in both V(D)J coding and signal joint formation.Nucleic acids research · 1998Article
- Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- SCID mice and the study of parasitic disease.Clinical microbiology reviews · 1996Review
- Ku86 defines the genetic defect and restores X-ray resistance and V(D)J recombination to complementation group 5 hamster cell mutants.Molecular and cellular biology · 1996Article
- Loss of the catalytic subunit of the DNA-dependent protein kinase in DNA double-strand-break-repair mutant mammalian cells.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Irradiation and fusion gene transfer.Molecular biotechnology · 1995Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to map the gene that is responsible for the DNA-repair defect in severe combined immune deficient (SCID) mice, a mixture of microcells independently isolated from mouse A9 cells containing pSV2neo-tagged human chromosomes 5, 7, 8, 9, 11, 15, 18 or 20 were fused with SCID fibroblast cell lines SCVA2 and SCVA4, which were originally established from lung tissue of the C.B.17-scid/scid mouse by SV40 virus transfection. After irradiation with 60Co gamma-rays and selection with antibiotic G418, 12 independent clones were obtained, of which 4 contained an intact chromosome 8, 3 clones contained a deleted chromosome 8 [del(8)q22-->qter or del(8)q23--> qter] and remaining 5 had no detectable or specific human chromosome. We further independently transferred a single human chromosome 8 or 11 into the SCVA cells via microcell fusion, and examined the radiation sensitivity of the microcell hybrids. Complementation of the radiation sensitivity was correlated with the presence of human chromosome 8 in microcell hybrids, whereas no correlation was observed in clones following the transfer of human chromosome 11. Thus, the results indicate that human chromosome 8 restored high sensitivity to ionizing radiation. A number of subclones that were radiation resistant or sensitive were isolated from the microcell hybrids. The concordance of the radiation sensitivity with the presence or absence of specific DNA fragments on chromosome 8 indicates that the human gene is located on the centromeric region of chromosome 8, i.e., 8p11.1--> q11.1.
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