title: Genomic organization of the neurofibromatosis 1 gene (NF1).
abstract: Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in the adjacent 350-kb NotI fragment. In our efforts to develop a comprehensive screen for NF1 mutations, we have isolated genomic DNA clones that together harbor the entire NF1 cDNA sequence. We have identified all intron-exon boundaries of the coding region and established that it is composed of 59 exons. Furthermore, we have defined the 3'-untranslated region (3'-UTR) of the NF1 gene; it spans approximately 3.5 kb of genomic DNA sequence and is continuous with the stop codon. Oligonucleotide primer pairs synthesized from exon-flanking DNA sequences were used in the polymerase chain reaction with cloned, chromosome 17-specific genomic DNA as template to amplify NF1 exons 1 through 27b and the exon containing the 3'-UTR separately. This information should be useful for implementing a comprehensive NF1 mutation screen using genomic DNA as template.
authors.affiliation: Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: H H
authors.initials: HH
authors.lastname: Breidenbach
authors.forename: R
authors.initials: R
authors.lastname: Cawthon
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: G
authors.initials: G
authors.lastname: Xu
authors.forename: S
authors.initials: S
authors.lastname: Neil
authors.forename: M
authors.initials: M
authors.lastname: Robertson
authors.forename: R
authors.initials: R
authors.lastname: White
authors.forename: D
authors.initials: D
authors.lastname: Viskochil
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D025542:Neurofibromin 1; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D017931:DNA Primers; D025542:Neurofibromin 1; D015345:Oligonucleotide Probes; D011506:Proteins; D004247:DNA