
doi: 10.1007/bf00373420
pmid: 7625848
Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, café-aulait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocytes from café-aulait macules (CALM), as an example of benign NF1 lesions, were examined for the expression of the different alternative splice products of this gene. Both kinds of NF1 messengers (type 1 and 2) were found not only in CALM melanocytes but also in keratinocytes, fibroblasts and blood cells. Except in blood cells, there was a predominance of the type 2 transcript. Melanocytes from NF1 patients and healthy donors showed similar expression patterns under several culture conditions. Our results suggest that the development of CALM does not correlate with a switch in the ratio of type 1 to type 2 NF1 messenger RNA.
Neurofibromatosis 1, Base Sequence, Molecular Sequence Data, Exons, Polymerase Chain Reaction, Alternative Splicing, Genes, Neurofibromatosis 1, Humans, Melanocytes, RNA, Messenger, Cells, Cultured
Neurofibromatosis 1, Base Sequence, Molecular Sequence Data, Exons, Polymerase Chain Reaction, Alternative Splicing, Genes, Neurofibromatosis 1, Humans, Melanocytes, RNA, Messenger, Cells, Cultured
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