title: The NF1 translocation breakpoint region.
abstract: The genetic locus that harbors mutation(s) responsible for neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2. We have mapped the human homologue of a murine gene (Evi-2) that is implicated in myeloid tumors, to a location between two NF1 translocation breakpoints on chromosome 17. Sequencing studies predict that EVI2 is a membrane protein that may complex with itself and/or other proteins within the membrane, perhaps to function as part of a cell-surface receptor. In the course of these studies we have also identified three other transcripts (classes of cDNAs) from the NF1 region. Two of them map between the NF1 translocation breakpoints; the remaining transcript maps just outside this region. The map location implicates these four genes as possible candidates for harboring NF1 mutations.
authors.affiliation: Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: R M
authors.initials: RM
authors.lastname: Cawthon
authors.forename: D
authors.initials: D
authors.lastname: Viskochil
authors.forename: R
authors.initials: R
authors.lastname: White
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: A M
authors.initials: AM
authors.lastname: Buchberg
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D014178:Translocation, Genetic
chemical_list: C484021:EVI2A protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D004247:DNA