Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
The neurofibromatosis 2 gene ( NF2 ) has recently been isolated and predicted to encode a novel protein related to the moesin–ezrin–radixin family of cytoskeleton–associated proteins. Here we describe a novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modif...
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Veröffentlicht in: | Nature genetics 1994-02, Vol.6 (2), p.185-192 |
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Hauptverfasser: | , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | The neurofibromatosis 2 gene (
NF2
) has recently been isolated and predicted to encode a novel protein related to the moesin–ezrin–radixin family of cytoskeleton–associated proteins. Here we describe a novel isoform of the
NF2
transcript that shows differential tissue expression and encodes a modified C terminus of the predicted protein. Mutations affecting both isoforms of the
NF2
transcript were detected in multiple tumour types including melanoma and breast carcinoma. These findings provide evidence that alterations in the
NF2
transcript occur not only in the hereditary brain neoplasms typically associated with
NF2
, but also as somatic mutations in their sporadic counterparts and in seemingly unrelated tumour types. The NF2 gene may thus constitute a tumour suppressor gene of more general importance in tumorigenesis. |
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ISSN: | 1061-4036 1546-1718 |
DOI: | 10.1038/ng0294-185 |