Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

David Viskochil, Arthur M. Buchberg, Gangfeng Xu, Richard M. Cawthon, Jeffrey Stevens, Roger K. Wolff, Melanie Culver, John C. Carey, Neal G. Copeland, Nancy A. Jenkins, Ray White, Peter O'Connell

Research output: Contribution to journalArticle

833 Scopus citations

Abstract

Three new neurofibromatosis type 1 (NF1) mutations have been detected and characterized. Pulsed-field gel and Southern blot analyses reveal the mutations to be deletions of 190, 40, and 11 kb of DNA. The 11 kb deletion does not contain any of the previously characterized genes that lie between two NF1 translocation breakpoints, but it does include a portion of a rodent/human conserved DNA sequence previously shown to span one of the translocation breakpoints. By screening cDNA libraries with the conserved sequence, we identified a number of cDNA clones from the translocation breakpoint region (TBR), one of which hybridizes to an ∼11 kb mRNA. The TBR gene crosses at least one of the chromosome 17 translocation breakpoints found in NF1 patients. Furthermore, the newly characterized NF1 deletions remove internal exons of the TBR gene. Although these mutations might act by compromising regulatory elements affecting some other gene, these findings strongly suggest that the TBR gene is the NF1 gene.

Original languageEnglish (US)
Pages (from-to)187-192
Number of pages6
JournalCell
Volume62
Issue number1
DOIs
StatePublished - Jul 13 1990

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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