title: The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.
abstract: Von Recklinghausen neurofibromatosis (NF1) is one of the most common inherited human disorders. The genetic locus that harbors the mutation(s) responsible for NF1 is near the centromere of chromosome 17, within band q11.2. Translocation breakpoints that have been found in this region in two patients with NF1 provide physical landmarks and suggest an approach to identifying the NF1 gene. As part of our exploration of this region, we have mapped the human homolog of a murine gene (Evi-2) implicated in myeloid tumors to a location between the two translocation breakpoints on chromosome 17. Cosmid-walk clones define a 60-kb region between the two NF1 translocation breakpoints. The probable role of Evi-2 in murine neoplastic disease and the map location of the human homolog suggest a potential role for EVI2 in NF1, but no physical rearrangements of this gene locus are apparent in 87 NF1 patients.
authors.affiliation: Howard Hughes Medical Institute, University of Utah, Salt Lake City 84132.
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: D
authors.initials: D
authors.lastname: Viskochil
authors.forename: A M
authors.initials: AM
authors.lastname: Buchberg
authors.forename: J
authors.initials: J
authors.lastname: Fountain
authors.forename: R M
authors.initials: RM
authors.lastname: Cawthon
authors.forename: M
authors.initials: M
authors.lastname: Culver
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: D C
authors.initials: DC
authors.lastname: Rich
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: M
authors.initials: M
authors.lastname: Wallace
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D002460:Cell Line; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D051379:Mice; D009456:Neurofibromatosis 1 / Q000235:genetics*; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D014178:Translocation, Genetic