title: NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.
abstract: We have studied the splicing regulation of NF1 exons 36 and 37. We show that they not only require an intact exonic Splicing Enhancer (ESE) within exon 37, but also need the genomic region stretching from exons 31 to 38. Any nucleotide change in two exon 37 third codon positions disrupts the ESE. The extent of exons 36 and 37 skipping due to a mutated ESE depends on the genomic context. This is a unique example of what may be a more general phenomena involved in the tuning of pre-mRNA processing and gene expression modulation in the chromosomal setting.
authors.affiliation: International Centre for Genetic Engineering and Biotechnology, ICGEB, Padriciano 99, 34012 Trieste, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Baralle
authors.forename: Natasa
authors.initials: N
authors.lastname: Skoko
authors.forename: Anna
authors.initials: A
authors.lastname: Knezevich
authors.forename: Laura
authors.initials: L
authors.lastname: De Conti
authors.forename: Dario
authors.initials: D
authors.lastname: Motti
authors.forename: Madhuri
authors.initials: M
authors.lastname: Bhuvanagiri
authors.forename: Diana
authors.initials: D
authors.lastname: Baralle
authors.forename: Emanuele
authors.initials: E
authors.lastname: Buratti
authors.forename: Francisco E
authors.initials: FE
authors.lastname: Baralle
mesh_terms: D017398:Alternative Splicing; D005091:Exons; D023281:Genomics; D006367:HeLa Cells; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D022821:RNA Splice Sites; D012333:RNA, Messenger / Q000378:metabolism; D038621:Regulatory Sequences, Ribonucleic Acid
chemical_list: D022821:RNA Splice Sites; D012333:RNA, Messenger; D038621:Regulatory Sequences, Ribonucleic Acid