Abstract
Neurofibromatosis type 1 (NF1) is a common inherited disorder that primarily affects tissues derived from the neural crest. Recent identification and characterization of the human NF1 gene has revealed that it encodes a protein (now called neurofibromin) that is similar in sequence to the ras-GTPase activator protein (or ras-GAP), suggesting that neurofibromin may be a component of cellular signal transduction pathways regulating cellular proliferation and/or differentiation. To initiate investigations on the role of the NF1 gene product in embryonic development, we have isolated a partial cDNA for chicken neurofibromin. Sequence analysis reveals that the predicted amino acid sequence is highly 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 for the human and murine mRNAs. Ribonuclease protection assays indicate that NF1 mRNA is expressed in a variety of tissues in the chick embryo; this is confirmed by in situ hybridization analysis. NF1 mRNA expression is detectable as early as embryonic stage 18 in the neural plate. This pattern of expression may suggest a role for neurofibromin during normal development, including that of the nervous system.
Original language | English (US) |
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Pages (from-to) | 267-278 |
Number of pages | 12 |
Journal | Molecular and Chemical Neuropathology |
Volume | 18 |
Issue number | 3 |
DOIs | |
State | Published - Apr 1993 |
Keywords
- Neurofibromatosis
- RNA blot
- RNase protection analysis
- chicken embryogenesis
- in situ hybridization
ASJC Scopus subject areas
- Neuroscience(all)
- Molecular Biology
- Clinical Neurology