184Views & Citations
In the progression of the disorder, Neurofibromatosis 1, NF1 Somatic Mutation (SM) is extraordinarily important. In this context it makes sense to query how NF1 SMs eventuate in this disorder. For example, what part of the cell cycle contributes to NF1 SM? In general, the SM process requires DNA synthesis, in turn a sine qua non of cell division, of cell proliferation. Thus, presumably, details of cell proliferation determine when and where an intragenic mutation occurs (although an intragenic deletion or whole gene deletion might occur at other times in the cell's history). In either case, does this have anything to do with the very large size of the NF1 locus and the very large size of the NF1gene product, Neurofibromin (Nfn)? Importantly, the duration of NF1 DNA replication or synthesis (S-phase) overlaps with the duration of DNA translation to messenger RNA (G1-phase or G2-phase), such that there could be compromise of the DNA synthesis so as to corrupt the latter’s completion. Multiple studies have documented that an NF1 person’s cutaneous neurofibromas (Cnfs)each have a distinct NF1SM, even if the Cnfs are spatially close to one another . That is, it would seem that the basis for and the nature of the mechanism accounting for each NF1 SM is intrinsic to the cell, and not to some paracrine, endocrine or other extracellular factor(s).
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