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© 1993 Oxford University Press

OTHER

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

Andre Bernards1,2, Allard J. Snijders2, Gregory E. Hannigan1, Anita E. Murthy1 and James F. Gusella1,*

1Molecular Neurogenetics Unit, Massachusetts General Hospital 149 13th Street, Charlestown Navy Yard, Boston, MA 02129, USA 2Cancer Center, Massachusetts General Hospital 149 13th Street, Charlestown Navy Yard, Boston, MA 02129, USA

* To whom correspondence should be addressed

Received March 4, 1993; Revised April 15, 1993; Accepted April 15, 1993

To identify evolutionary conserved domains and facilitate the recognition of potentially significant mutations in NF1 patients or tumors, we have determined the complete ~12 kb sequence of mouse neurofibromatosis type 1 mRNA. The sequence predicts a 2841 amino acid protein that is more than 98% identical to human neurofibromin. All but 9 of the 45 amino acid differences between mouse and human neurofibromin occur in the N-terminal half of the protein, with 16 changes clustered just upstream of the IRA-related segment. Given the high degree of sequence identity, virtually any sequence alteration in NF1 patients or tumors is potentially significant. We have also found that the 3' untranslated segment of NF1 mRNA is highly conserved, suggesting that this region may also be a target for mutations in NF1 patients.


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