Abstract
Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1−/−) have been isolated from different neurofibromas1 showing loss of heterozygosity of nearly the entire 17q chromosome. By comparing molecular and fluorescent in situ hybridization analysis of these cells, we demonstrate mitotic recombination is the mechanism underlying this type of loss of heterozygosity leading to reduction to homozygosity of NF1 germline mutation.
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Acknowledgements
The authors thank the patients and clinicians who participated in this study. We thank D. Otero, N. Andreu, L. Sumoy and C. Pucharcós for technical advice and H. Kruyer for preparation of the manuscript. This work was supported by grants of the Fondo de Investigaciones Sanitarias de la Seguridad Social (98-0992), the Fundació August Pi i Sunyer/Marató de TV3, the Institut Català de la Salut, the Ministerio de Educación y Ciencia (CICYT/SAF96-1787-E) and the Generalitat de Catalunya (CIRIT/1997SGR-00085). E.A. was a fellow of the Comissió Interdepartamental de Recerca i Innovació Tecnològica of the Generalitat de Catalunya.
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Serra, E., Rosenbaum, T., Nadal, M. et al. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet 28, 294–296 (2001). https://doi.org/10.1038/90148
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DOI: https://doi.org/10.1038/90148
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