| First Author | Buchberg AM | Year | 1990 |
| Journal | Nature | Volume | 347 |
| Issue | 6290 | Pages | 291-4 |
| PubMed ID | 2169593 | Mgi Jnum | J:10738 |
| Mgi Id | MGI:59184 | Doi | 10.1038/347291a0 |
| Citation | Buchberg AM, et al. (1990) Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway [see comments]. Nature 347(6290):291-4 |
| abstractText | Neurofibromatosis type-1 (NF-1) is one of the most frequently inherited genetic disorders affecting humans. NF-1 primarily affects cells of neural crest origin and is characterized by patches of skin pigmentation (cafe-au-lait spots) and neurofibromas. Cloning of the human NF-1 gene shows that it encodes an 11-13 kilobase transcript that is frequently disrupted in NF-1 patients. The frequent disruption of the NF-1 gene in NF-1 patients combined with the autosomal dominant mode of inheritance of NF-1 strongly suggest that the NF-1 gene is a tumour-suppressor gene. We have now sequenced a portion of the murine NF-1 gene and show that the predicted amino-acid sequence is nearly the same as the corresponding region of the human NF-1 gene product. Northern blotting identified mouse NF-1 transcripts that are equivalent in size and complexity to those in human tissues, and Southern blotting shows that this region of the NF-1 gene is evolutionarily well conserved. Finally, computer searches identified homology between the mouse NF-1 gene and IRA-1 and IRA-2, two genes identified in Saccharomyces cerevisiae that negatively regulate the RAS-cyclic AMP pathway. These findings provide important new insights into the possible function of the NF-1 gene. |
