Gl. Schafer et al., ANALYSIS OF THE SEQUENCE AND EMBRYONIC EXPRESSION OF CHICKEN NEUROFIBROMIN MESSENGER-RNA, Molecular and chemical neuropathology, 18(3), 1993, pp. 267-278
Neurofibromatosis type 1 (NF1) is a common inherited disorder that pri
marily affects tissues derived from the neural crest. Recent identific
ation and characterization of the human NF1 gene has revealed that it
encodes a protein (now called neurofibromin) that is similar in sequen
ce to the ras-GTPase activator protein (or ras-GAP), suggesting that n
eurofibromin may be a component of cellular signal transduction pathwa
ys regulating cellular proliferation and/or differentiation. To initia
te investigations on the role of the NF1 gene product in embryonic dev
elopment, we have isolated a partial cDNA for chicken neurofibromin. S
equence analysis reveals that the predicted amino acid sequence is hig
hly conserved between chick and human. The chicken cDNA hybridizes to
a 12.5-kb transcript on RNA blots, a mol wt similar to that reported f
or the human and murine mRNAs. Ribonuclease protection assays indicate
that NF1 mRNA is expressed in a variety of tissues in the chick embry
o; this is confirmed by in situ hybridization analysis. NF1 mRNA expre
ssion is detectable as early as embryonic stage 18 in the neural plate
. This pattern of expression may suggest a role for neurofibromin duri
ng normal development, including that of the nervous system.