Vh. Haase et al., THE MURINE NF2 HOMOLOG ENCODES A HIGHLY CONSERVED MERLIN PROTEIN WITHALTERNATIVE FORMS, Human molecular genetics, 3(3), 1994, pp. 407-411
The recently isolated gene for neurofibromatosis type 2 (NF2) encodes
a 595 amino acid protein, named merlin, which is related to the cytosk
eleton-associated proteins moesin, ezrin and radixin. To identify evol
utionarily conserved regions and to provide sequence information neces
sary for the establishment of a mouse model for NF2, we have determine
d 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 amino acid longer due to the inser
tion of a proline residue near the C-terminus. Of the nine amino acid
differences between mouse and humans, seven occur in the C-terminal 20
% of the protein, far from the protein 4.1 domain that defines this fa
mily. Two of the NF2 cDNA clones reveal evidence of alternative splici
ng events that alter the predicted merlin product, one removing a 45 a
mino 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 id
entification of the precise function that must be disrupted to cause t
he NF2-associated 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.