© 1994 Oxford University Press
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The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms
1Molecular Neurogenetics Laboratory, Massachusetts General Hospital Charlestown, MA 02129, USA 2HGMP Resource Centre Harrow, Middlesex HA1 3UJ, UK 3Department of Genetics, Harvard Medical School Boston, MA 02114, USA
*To whom correspondence should be addressed at: Molecular Neurogenetics Unit, MGH East, Building 149, 13th Street, Charlestown, MA 02129, USA
Received October 18, 1993; Revised January 3, 1994; Accepted January 3, 1994
The recently isolated gene for neuroflbromatosls type 2 (NF2) encodes a 595 amlno acid protein, named merlin, which Is related to the cytoskeleton-assoclated proteins moesln, ezrin and radlxin. To Identify evolutionarily conserved regions and to provide sequence Information necessary for the establishment of a mouse model for NF2, we have determined the cDNA sequence of the mouse NF2 tumor suppressor gene, and mapped It In the mouse genome. Mouse merlin is a 596 amino acid protein, 98% identical to human merlin, but one amlno acid longer due to the Insertion of a proline residue near the C-terminus. Of the nine amlno acid differences between mouse and humans, seven occur in the C-termlnal 20% of the protein, far from the protein 4. 1 domain that defines this family. Two of the NF2 cDNA clones reveal evidence of alternative splicing events that alter the predicted merlin product, one removing a 45 amlno acid segment from the middle section of the protein and the other changing the C-terminus. The existence of several different forms of merlin potentially with different primary roles will complicate the Identification of the precise function that must be disrupted to cause the NF2-assoclated tumors. The mouse NF2 homologue maps to Chr 11, in a region homologous to human Chr 22, but devoid of any mouse mutations which could be models of the human disorder.
+Present address: Department of Medicine, Emory University School of Medicine, Atlanta, GA 30303, USA
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