Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder. A part of the gene for NF1 was cloned and its deduced protein has a domain functionally related to mammalian ras GTP-ase-activating protein (GAP). Human tissues examined express two types of NF1 mRNAs: an originally identified species of NF1 mRNA (type I) and another one containing the 63 base insert in the region coding for GAP-related domain (type II). However relative levels of both mRNAs seem to change under certain conditions. Human brain expresses type I mRNA predominantly, while type II is preferentially expressed in most primary brain tumors (13/16 tumors analyzed). We suggest that higher levels of type II mRNA may be related to the genesis of brain tumors.