Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Eduard Serra, Thorsten Rosenbaum, Marga Nadal, Ursula Winner, Elisabet Ars, Xavier P. Estivill, Conxi Lázaro

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1-/-) have been isolated from different neurofibromas 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.

Original languageEnglish
Pages (from-to)294-296
Number of pages3
JournalNature Genetics
Volume28
Issue number3
DOIs
Publication statusPublished - 2001
Externally publishedYes

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Neurofibroma
Germ-Line Mutation
Loss of Heterozygosity
Genetic Recombination
Schwann Cells
Fluorescence In Situ Hybridization
Chromosomes
Alleles
Population

ASJC Scopus subject areas

  • Genetics

Cite this

Serra, E., Rosenbaum, T., Nadal, M., Winner, U., Ars, E., Estivill, X. P., & Lázaro, C. (2001). Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nature Genetics, 28(3), 294-296. https://doi.org/10.1038/90148

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. / Serra, Eduard; Rosenbaum, Thorsten; Nadal, Marga; Winner, Ursula; Ars, Elisabet; Estivill, Xavier P.; Lázaro, Conxi.

In: Nature Genetics, Vol. 28, No. 3, 2001, p. 294-296.

Research output: Contribution to journalArticle

Serra, E, Rosenbaum, T, Nadal, M, Winner, U, Ars, E, Estivill, XP & Lázaro, C 2001, 'Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas', Nature Genetics, vol. 28, no. 3, pp. 294-296. https://doi.org/10.1038/90148
Serra, Eduard ; Rosenbaum, Thorsten ; Nadal, Marga ; Winner, Ursula ; Ars, Elisabet ; Estivill, Xavier P. ; Lázaro, Conxi. / Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. In: Nature Genetics. 2001 ; Vol. 28, No. 3. pp. 294-296.
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