@article{f2be2675e4ce4977a5583e840403da8a,
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.",
author = "Peter O'Connell and David Viskochil and Buchberg, {Arthur M.} and Jane Fountain and Cawthon, {Richard M.} and Melanie Culver and Jeffrey Stevens and Rich, {Donna C.} and Ledbetter, {David H.} and Margaret Wallace and Carey, {John C.} and Jenkins, {Nancy A.} and Copeland, {Neal G.} and Collins, {Francis S.} and Ray White",
note = "Funding Information: We thank G. W. Dewald, J. F. Gusella, A. Menon, V. V. Michaels, M. A. Schmidt, and B. R. Seizinger for the t1;17 cell lines. We also thank M. Skolnick for assistance in collection of NFl patients, K. Ward for the segregation study of EVZ-2 polymorphisms in NFl families, and L. Andersen for helpful suggestions. A.-K. Frej and M. Robertson provided technical assistance, and R. Foltz edited the manuscript and prepared the figures. Research was supported in part by the National Cancer Institute, Department of Health and Human Services, under Contract NOl-CO-74101 with BRI. R.W. is an investigator, and F.S.C. an associate investigator, at the Howard Hughes Medical Institute.",
year = "1990",
month = aug,
doi = "10.1016/0888-7543(90)90198-4",
language = "English (US)",
volume = "7",
pages = "547--554",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press",
number = "4",
}