title: Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1.
abstract: 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.
authors.affiliation: Abteilung Humangenetik, Universität Ulm, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Eisenbarth
authors.forename: S
authors.initials: S
authors.lastname: Hoffmeyer
authors.forename: D
authors.initials: D
authors.lastname: Kaufmann
authors.forename: G
authors.initials: G
authors.lastname: Assum
authors.forename: W
authors.initials: W
authors.lastname: Krone
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D002478:Cells, Cultured; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008544:Melanocytes / Q000378:metabolism*; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger