title: Quantification of NF1 transcripts reveals novel highly expressed splice variants.
abstract: Previously, we have shown that the NF1 gene gives rise to multiple novel splice variants. In the present study, nine NF1 variants were quantified by real-time PCR in various human tissues. Some of these variants were expressed at low to moderate low levels and possible implications of these findings are discussed. Interestingly, two variants (NF1-DeltaE4b and NF1-DeltaE43) were shown to be highly expressed in specific tissues. NF1-DeltaE43 lacks a nuclear targeting sequence and might be functionally different from full-length NF1. These novel NF1 splice variants might expand our understanding of the role of neurofibromin.
authors.affiliation: Centre for Medical Genetics, Ghent University Hospital-0K5, De Pintelaan 185, Belgium.
authors.forename: Ina
authors.initials: I
authors.lastname: Vandenbroucke
authors.forename: Jo
authors.initials: J
authors.lastname: Vandesompele
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Ludwine
authors.initials: L
authors.lastname: Messiaen
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002478:Cells, Cultured; D015870:Gene Expression; D016514:Genes, Neurofibromatosis 1 / Q000502:physiology; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism; D051379:Mice; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D012333:RNA, Messenger; D014018:Tissue Distribution
chemical_list: D025542:Neurofibromin 1; D012333:RNA, Messenger