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

doi:10.1016/0092-8674(90)90252-A

Cell

Volume 62, Issue 1, 13 July 1990, Pages 187-192

https://doi.org/10.1016/0092-8674(90)90252-A Get rights and content

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.

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Abstract

References (24)

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

Anal. Biochem.

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Cell

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

Genomics

Separation of yeast chromosome-sized DNAs by pulsed field gel electrophoresis

Cell

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Cell

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

Science

Screening γ-gt recombinant clones by hybridization to single plaques in situ

Science

Identification of a putative proto-oncogene, Evi-2, in murine myeloid leukemias that is closely linked to the von Recklinghausen neurofibromatosis locus in humans

Mol. Cell. Biol.

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EV12 and mapping of other transcripts

Genomics

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

Anal. Biochem.

Physical mapping of a translocation breakpoint in neurofibromatosis

Science

Enzymatic amplification of specific cDNA inserts from γ-gt11 libraries

Nucl. Acids Res.

Cited by (966)

RAS Signaling Gone Awry in the Skin: The Complex Role of RAS in Cutaneous Neurofibroma Pathogenesis, Emerging Biological Insights

Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires

Mapping the Landscape of Neurofibromatosis: A Bibliometric Evaluation Highlighting Our Current Understanding, Emerging Therapies, and Global Research Trends

Genetics of Pancreatic Neuroendocrine Tumors

Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

Cell

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

Abstract

Anal. Biochem.

Cell

Genomics

Cell

Cell

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

Science

Screening γ-gt recombinant clones by hybridization to single plaques in situ

Science

Identification of a putative proto-oncogene, Evi-2, in murine myeloid leukemias that is closely linked to the von Recklinghausen neurofibromatosis locus in humans

Mol. Cell. Biol.

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EV12 and mapping of other transcripts

Genomics

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

Anal. Biochem.

Physical mapping of a translocation breakpoint in neurofibromatosis

Science

Enzymatic amplification of specific cDNA inserts from γ-gt11 libraries

Nucl. Acids Res.

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