The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms |
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Authors: | Haase, Volker H. Trofatter, James A. MacCollin, Mla Tarttelln, Emma Gusella, James F. Ramesh, Vijaya |
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Affiliation: | 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 |
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Abstract: | The recently isolated gene for neuroflbromatosls type 2 (NF2)encodes a 595 amlno acid protein, named merlin, which Is relatedto the cytoskeleton-assoclated proteins moesln, ezrin and radlxin.To Identify evolutionarily conserved regions and to providesequence Information necessary for the establishment of a mousemodel for NF2, we have determined the cDNA sequence of the mouseNF2 tumor suppressor gene, and mapped It In the mouse genome.Mouse merlin is a 596 amino acid protein, 98% identical to humanmerlin, but one amlno acid longer due to the Insertion of aproline residue near the C-terminus. Of the nine amlno aciddifferences between mouse and humans, seven occur in the C-termlnal20% of the protein, far from the protein 4. 1 domain that definesthis family. Two of the NF2 cDNA clones reveal evidence of alternativesplicing events that alter the predicted merlin product, oneremoving a 45 amlno acid segment from the middle section ofthe protein and the other changing the C-terminus. The existenceof several different forms of merlin potentially with differentprimary roles will complicate the Identification of the precisefunction that must be disrupted to cause the NF2-assoclatedtumors. The mouse NF2 homologue maps to Chr 11, in a regionhomologous to human Chr 22, but devoid of any mouse mutationswhich could be models of the human disorder. |
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